association dataset threshold value standardized value intraciliary retrograde transport GO Biological Process Annotations 2023 1.0 null PMC8020666-pnas.2015855118.sd05.xlsx-LPS_4_AAM-Ensemble_gene_id_IRF6 Rummagene Transcription Factor Associations 2026 1.0 null Kidney renal papillary cell carcinoma_KIRP_TCGA-BQ-7061-01A-11R-1965-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K27me3_cardiac mesoderm_hg19_8 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K33371292 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.75042 GSE77108_0_v_7_saha_human RummaGEO Drug Perturbation Signatures 1.0 null PMC6935105-40170_2019_206_MOESM9_ESM.xlsx-HIF1_up_VENN-697_elements_included_exclusively_in_HIF1_genes_HIF1A Rummagene Transcription Factor Associations 2026 1.0 null BRD-K21470524 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.09487 GTEX-PVOW-0006-SM-3NMB8 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.512 Ciliary base COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.687 HOXA2 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 15.0225 Anterior cingulate area, ventral part, 6a Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.73187 HCC2302 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.21818 abnormality of the philtrum HPO Gene-Disease Associations 1.0 null TMEM50A CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.43176 EP300_HepG2_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_MCF-7_hg19_9 ENCODE Transcription Factor Binding Site Profiles 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-CV-5443-01A-01R-1514-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K4me3_IMR90 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null STK16 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.0058009 IGBP1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.52628 abnormal rib morphology MGI Mouse Phenotype Associations 2023 1.0 null r5 part of posteroventral cochlear nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.12496 H3K4me3_skeletal muscle cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H3K4me1_CH12.LX_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null GSE158834_12_v_8_palmitic acid_human RummaGEO Drug Perturbation Signatures -1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-CV-5976-01A-11R-1686-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null mevalolactone-3459 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GTEX-QESD-1626-SM-2S1RB GTEx Tissue Sample Gene Expression Profiles -1.0 -1.3862 SHP-77 COSMIC Cell Line Gene Mutation Profiles 1.0 null Lung adenocarcinoma_LUAD_TCGA-49-6742-11A-01R-1858-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Perturb_11805_KO_Gpsm1_ERP017365 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -1.94765 GSE248770_0_v_1_sorafenib_human RummaGEO Drug Perturbation Signatures -1.0 null EGR1_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null disease of anatomical entity DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null GSE223008_7_v_1_calhm6_mouse RummaGEO Gene Perturbation Signatures -1.0 null ACSL3 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.19699 Dysmorphic Facies DisGeNET Gene-Phenotype Associations 1.0 null Sox6 JASPAR Predicted Mouse Transcription Factor Targets 2025 1.0 31.2972 terbutaline-3202 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null doxylamine-1893 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-T5JC-2326-SM-32PMR GTEx Tissue Sample Gene Expression Profiles 1.0 1.29418 Liver hepatocellular carcinoma_LIHC_TCGA-G3-A7M6-01A-11R-A33R-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null minoxidil-4800 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CTCF_GM19239_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K56916066 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.3023 BRD-K24496482_SB590885_HT29_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-T6MO-0006-SM-32QOU GTEx Tissue Sample Gene Expression Profiles -1.0 -1.78505 TAF1_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Bladder Urothelial Carcinoma_BLCA_TCGA-UY-A78N-01A-12R-A33J-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CTCF_GM12875_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Fetallung BioGPS Human Cell Type and Tissue Gene Expression Profiles 1.0 1.71033 E2F6_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K26738018 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.08161 Prelimbic area, layer 6a Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.03075 dynein complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.696465 abnormal sternum morphology MPO Gene-Phenotype Associations 1.0 null H3K27ac_CD4 Memory Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null H3K4me3_GM12878_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null CTCF_GM12864_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null medial part of r6B Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.01203 Orofaciodigital syndrome IX DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.189 CP in midlateral temporal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.17467 GTEX-OIZI-0005-SM-2XCED GTEx Tissue Sample Gene Expression Profiles -1.0 -1.28743 clinodactyly HPO Gene-Disease Associations 1.0 null Notochord TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.134 integument TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.051585 GSE103068_5_v_4_volasertib_human RummaGEO Drug Perturbation Signatures 1.0 null pseudopelletierine-1774 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null 496100494_HIP_no dementia_TBI_100+_F Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.2882 ellis-van creveld syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 1.069 USF2_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2AphosphoS5_G1E_mm9_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null H2AFZ_skeletal muscle myoblast_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null SAP30_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K23162004 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.02547 TAF1_GM12891_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null SUP-HD1 COSMIC Cell Line Gene Mutation Profiles 1.0 null GTEX-P78B-0005-SM-2I5GM GTEx Tissue Sample Gene Expression Profiles -1.0 -1.24092 GTEX-RVPU-0005-SM-2TF6L GTEx Tissue Sample Gene Expression Profiles -1.0 -1.89482 GTEX-P44H-0526-SM-2XCF1 GTEx Tissue Sample Gene Expression Profiles 1.0 1.10587 periventricular stratum of r7Co Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.22468 NR3C2 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 25.3908 PMC6904118-NIHMS1544763-supplement-5.xlsx-MYB_Individual-MYB_sgRNA-8_MYB Rummagene Transcription Factor Associations 2026 1.0 null GTEX-RU72-3126-SM-46MUB GTEx Tissue Sample Gene Expression Profiles 1.0 1.09961 BRD-K35132745 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.48008 Microcephaly DisGeNET Gene-Phenotype Associations 1.0 null GSE57871_11_v_9_vorinostat_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K78809123 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.04513 primary auditory cortex (core)_3 yrs_F_12836 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.04904 Hmgn1_KO_GDS5010_406_mouse_liver GEO Signatures of Differentially Expressed Genes for Gene Perturbations 1.0 null NRF1_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE159678_6_v_7_chloroquine_human RummaGEO Drug Perturbation Signatures -1.0 null abnormal appendicular skeleton morphology MPO Gene-Phenotype Associations 1.0 null thyroid_5d HPA Tissue Sample Gene Expression Profiles 1.0 1.02188 H3K4me2_fibroblast of lung_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Plasma membrane bounded cell projection COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.501 GSE142210_2_v_5_panobinostat_human RummaGEO Drug Perturbation Signatures -1.0 null PMC6928094-395_2019_765_MOESM7_ESM.xls-DEGs_AR7_vs_Pre-patterned-List_of_differentially_expressed_genes_in_AR7_vs_Pre-patterned_cells_THRA Rummagene Transcription Factor Associations 2026 1.0 null abnormality of permanent molar morphology HPO Gene-Disease Associations 1.0 null Partial central choroid dystrophy DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.261 Nucleus of the trapezoid body Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -2.44451 BRD-K99028283 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.00496 CRCGN017_MCF10A.TP53.M_24H:G12 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 4.15928 GSE158834_2_v_4_palmitic acid_human RummaGEO Drug Perturbation Signatures 1.0 null GSE88819_5_v_2_tug1_mouse RummaGEO Gene Perturbation Signatures -1.0 null GTEX-UTHO-3126-SM-3P5ZB GTEx Tissue Sample Gene Expression Profiles 1.0 2.27746 PMC12048643-44318_2025_409_MOESM3_ESM.xlsx-regulonTargets-SOX4_SOX4 Rummagene Transcription Factor Associations 2026 1.0 null CLPP_KO_GDS4791_106_mouse_liver GEO Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 null GTEX-XUJ4-2726-SM-4BOQ1 GTEx Tissue Sample Gene Expression Profiles 1.0 0.865211 GSE161170,GSE161268_1_v_3_med1_human RummaGEO Gene Perturbation Signatures 1.0 null BRD-K09523238 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.18688 NCI-H1581 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.881303 CRCGN016_MCF10A.TP53.M_24H:E01 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.00797 K029AX CCLE Cell Line Gene CNV Profiles -1.0 -1.43891 GTEX-OOBJ-0006-SM-2I3F4 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.14083 hypertension GWASdb SNP-Disease Associations 1.0 0.687223 GTEX-TKQ1-0426-SM-4DXT4 GTEx Tissue Sample Gene Expression Profiles 1.0 0.852209 Ciliary pocket membrane COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.866 myb_16205643_primary_monocytes_gof_human_gpl570_gse2816 GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations -1.0 -0.555018 GTEX-OIZF-0006-SM-2I5GQ GTEx Tissue Sample Gene Expression Profiles -1.0 -1.03011 Fundus dystrophy DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.33 PMC6904118-NIHMS1544763-supplement-5.xlsx-MYB_Individual-MYB_sgRNA-3_MYB Rummagene Transcription Factor Associations 2026 1.0 null CBX3_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K50210179 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.55892 DMS 79 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.953166 nomifensine-7217 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CRCGN016_MCF10A.TP53.M_24H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 8.0425 SPI1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Acute Kidney Injury CTD Gene-Disease Associations 1.0 1.13655 posteroventral (inferior) parietal cortex_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.12087 abnormality of cardiovascular system physiology GWASdb SNP-Phenotype Associations 1.0 0.589054 SETD1A CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.0796 GSE238116_3_v_0_egr1_human RummaGEO Gene Perturbation Signatures 1.0 null H3K4me1_endothelial cell of umbilical vein_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null proguanil-3505 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null USF1_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null PSMA5 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.03151 CRCGN009_HEPG2_24H:K08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.14632 paraventricular nucleus, rostral part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.52798 GTEX-PLZ6-1726-SM-2S1O6 GTEx Tissue Sample Gene Expression Profiles 1.0 0.991776 retinitis pigmentosa DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null CREB1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K9ac_heart_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null urinary system disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null abnormal limb mesenchyme morphology MGI Mouse Phenotype Associations 2023 1.0 null Pallister-Hall syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.278 embryonic stem feeder layer BioGPS Mouse Cell Type and Tissue Gene Expression Profiles -1.0 -1.42299 ARID3A_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Echogenic Kidneys DisGeNET Gene-Phenotype Associations 1.0 null POLR2A_Raji_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null trachea BioGPS Mouse Cell Type and Tissue Gene Expression Profiles -1.0 -1.69025 KYSE-50 COSMIC Cell Line Gene Mutation Profiles 1.0 null rostral subdivision of paraventricular nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.85666 MAX_NB4_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null cutis laxa HPO Gene-Disease Associations 1.0 null Prostate adenocarcinoma_PRAD_TCGA-XJ-A9DI-01A-11R-A37L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null non-membrane-bounded organelle COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.098109 Spondylometaphyseal dysplasia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.11 Kinetoplastid TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.993 BRD-K05104363_PD-184352_HT29_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null SETDB1_U2OS_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Photoreceptor cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.825 H3K27ac_bone marrow macrophage_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null NFYA_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K92524823 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.38038 POLR2A_K562_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K57586808 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.35594 abducens nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.87131 BRD-K50140147_NVP-TAE684_BT20_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null endometrium_8a HPA Tissue Sample Gene Expression Profiles 1.0 1.63617 GTEX-P44H-0006-SM-2XCFB GTEx Tissue Sample Gene Expression Profiles -1.0 -0.82512 periventricular stratum of PO1 Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.41759 Craniosynostosis DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.309 18381933-SuppTableS4 GeneSigDB Published Gene Signatures 1.0 null WC-09-GD62_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.202993 RPL31 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 3.13927 globus pallidus, internal segment, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.31808 trichostatin A-1112 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K01614657_-666_MCF7_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null motor nucleus of trigeminal nerve, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.79807 GTEX-R53T-0526-SM-3GADL GTEx Tissue Sample Gene Expression Profiles 1.0 1.07671 HCFC1_MEL cell line_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null 0179445-0000-4289 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null MELK_druginhibition_186_GSE50227 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 1.72002 FOXA2_A549_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null MOLM-16 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.10057 bed nucleus of stria terminalis, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.3425 GTEX-QDVN-0626-SM-2I3FP GTEx Tissue Sample Gene Expression Profiles 1.0 0.916209 anterior (rostral) cingulate (medial prefrontal) cortex_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.69481 Sarcoma_SARC_TCGA-X6-A8C6-01A-11R-A36F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null tissues, cell types and enzyme sources TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.232599 sirolimus_homo sapiens_gpl2895_gse16944 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_kidney epithelial cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_CD4+ CD25- IL17+ PMA-Ionomcyin stimulated Th17 Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null dizocilpine-1386 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null HEXA LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00628365 CRCGN017_MCF10A.TP53.M_24H:A16 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.07583 Kinesin complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.318 CRCGN016_MCF10A.TP53.M_24H:K08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 5.91397 CTCF_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null ciliary GeneRIF Biological Term Annotations 1.0 null cilium COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.237908 IPC298_SKIN CCLE Cell Line Proteomics 1.0 3.15878 single-organism transport GO Biological Process Annotations 2015 1.0 null Imperforate anus DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.164 RFX5_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K62102480 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.82751 ZBTB33_HepG2_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null protein localization to membrane GO Biological Process Annotations 2023 1.0 null GTEX-WHPG-0006-SM-3NMBV GTEx Tissue Sample Gene Expression Profiles -1.0 -1.54158 NCI-H1373 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 2.07097 5182598-868 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K28429328 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.82433 PRKAR1B Pathway Commons Protein-Protein Interactions 1.0 null AU565 Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles -1.0 -1.42137 SDHAF2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.25259 GB-57-XV52_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.297874 SYK_druginhibition_285_GSE43510 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 1.26721 protein-containing complex organization GO Biological Process Annotations 2023 1.0 null GTEX-U8T8-0005-SM-3DB8F GTEx Tissue Sample Gene Expression Profiles -1.0 -1.36618 H3K4me3_GM12865_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null DUOXA2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00768725 Kartagener syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.143 Leydig cell_Fetal gonad_Human CellMarker Gene-Cell Type Associations 1.0 null trichostatin A-1175 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE57871_8_v_2_vorinostat_human RummaGEO Drug Perturbation Signatures 1.0 null cuneus, left, striate Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.842918 dorsolateral prefrontal cortex_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.03631 HCC1534 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.91428 GSE142210_11_v_8_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null AKAP5 Pathway Commons Protein-Protein Interactions 1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-EE-A2ML-06A-11R-A18S-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Retinitis pigmentosa 28 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.111 H3K4me1_G1E_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null Ovary GTEx Tissue Gene Expression Profiles 2023 1.0 1.7192 CTCF_fibroblast of lung_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null aplasia/hypoplasia involving bones of the hand HPO Gene-Disease Associations 1.0 null BRD-K33597325 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.47355 Refractive error DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.145 BRD-A45498368_WYE-125132_MDAMB231_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null primary auditory cortex (core)_3 yrs_M_12980 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -0.926731 hsa-miR-148b TargetScan Predicted Nonconserved microRNA Targets 1.0 0.809003 Bone development disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.607 establishment of localization GO Biological Process Annotations 2015 1.0 null CTCF_choroid plexus epithelial cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null establishment of localization in cell GO Biological Process Annotations 2015 1.0 null Renal Insufficiency DisGeNET Gene-Disease Associations 1.0 null GSE217452_3_v_1_docetaxel_human RummaGEO Drug Perturbation Signatures 1.0 null hypoglossal nucleus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.31241 GTEX-T5JC-0626-SM-3NMA6 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.28825 GTEX-WRHU-0826-SM-3MJFN GTEx Tissue Sample Gene Expression Profiles -1.0 -0.913796 GTEX-T5JW-1226-SM-3GACY GTEx Tissue Sample Gene Expression Profiles 1.0 1.08117 PMC9338531-13046_2022_2445_MOESM18_ESM.xlsx-AASE_K562_KD-GeneID_AR Rummagene Transcription Factor Associations 2026 1.0 null Progressive Visual Loss DisGeNET Gene-Phenotype Associations 1.0 null H3K4me3_fibroblast of lung_hg19_4 ENCODE Histone Modification Site Profiles 1.0 null Liver hepatocellular carcinoma_LIHC_TCGA-CC-A8HS-01A-11R-A36F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null iron-sulfur cluster transfer complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.676 intracellular membrane-bounded organelle COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 Eye TISSUES Curated Tissue Protein Expression Evidence Scores 2025 1.0 4.0 GSE77108_6_v_7_saha_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K56188108 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.47084 GTEX-P4PP-0005-SM-2HMKX GTEx Tissue Sample Gene Expression Profiles -1.0 -1.93029 axonemal dynein complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.487307 POLR2A_endothelial cell of umbilical vein_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null Lung adenocarcinoma_LUAD_TCGA-55-6982-11A-01R-1949-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null interstitial nucleus of Cajal, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.9434 dentate gyrus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.60769 Short Iliac Bones DisGeNET Gene-Phenotype Associations 1.0 null SIN3A_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CHD2_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormal limb paddle morphology MGI Mouse Phenotype Associations 2023 1.0 null USF2_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormal circulating creatinine level HPO Gene-Disease Associations 1.0 null Ciliated epithelial cell_Esophagus_Human CellMarker Gene-Cell Type Associations 1.0 null appendage morphogenesis GO Biological Process Annotations 2015 1.0 null BRD-K86797399_pracinostat_A549_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null TTF2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.90888 GTEX-QEG4-0006-SM-2I5FY GTEx Tissue Sample Gene Expression Profiles -1.0 -0.982933 vorinostat-5580 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_embryonic fibroblast_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null organ development GO Biological Process Annotations 2015 1.0 null labetalol-6809 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null asphyxiating thoracic dystrophy DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 1.8862 BRD-K48699175 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.11513 ventral tegmental area, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -0.900947 BRD-K30643363 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.24631 hsa-miR-3678-3p TargetScan Predicted Nonconserved microRNA Targets 1.0 0.880544 PRKAR1A Pathway Commons Protein-Protein Interactions 1.0 null NCI-H1299 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.42613 PMC10661700-41525_2023_383_MOESM2_ESM.xlsx-Supp_Table2_ChinaMAP_GCR-SYMBOL_NR3C1 Rummagene Transcription Factor Associations 2026 1.0 null connective tissue disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.045417 hydroquinone_homo sapiens_gpl570_gse31641 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-P44H-0011-R11A-SM-2XCER GTEx Tissue Sample Gene Expression Profiles 1.0 1.21157 GSE184356_3_v_0_tfam_human RummaGEO Gene Perturbation Signatures 1.0 null Pheochromocytoma and Paraganglioma_PCPG_TCGA-QT-A69Q-01A-11R-A35K-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K4me1_CD4 Naive Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null complete embryonic lethality during organogenesis MPO Gene-Phenotype Associations 1.0 null GSE142210_4_v_7_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null CTCF_SK-N-SH_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-N7MT-1026-SM-3TW8T GTEx Tissue Sample Gene Expression Profiles 1.0 2.8334 PANC0327 DepMap CRISPR Gene Dependency 1.0 8.31126 VZ in midlateral temporal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.04981 GSE169356_2_v_3_ivermectin_human RummaGEO Drug Perturbation Signatures 1.0 null prostate gland TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.459532 GTEX-UJHI-0006-SM-3DB8H GTEx Tissue Sample Gene Expression Profiles -1.0 -1.01858 MAX_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null protein-containing complex assembly GO Biological Process Annotations 2023 1.0 null sagittal craniosynostosis HPO Gene-Disease Associations 1.0 null hsa-miR-320c TargetScan Predicted Nonconserved microRNA Targets 1.0 1.40969 GSE165560_0_v_1_cisplatin_human RummaGEO Drug Perturbation Signatures -1.0 null H3K9ac_Duodenum Mucosa Roadmap Epigenomics Histone Modification Site Profiles 1.0 null RFX5_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null SEC22B CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.20374 TMEM41B CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.14604 BRD-K12343256_trametinib_HT29_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CTCF_GM12892_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-S95S-1526-SM-2XCDH GTEx Tissue Sample Gene Expression Profiles 1.0 0.934503 Physical disorder DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.29 diagonal part of septum Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.03927 GTEX-X4XY-0826-SM-4E3JM GTEx Tissue Sample Gene Expression Profiles 1.0 1.28043 smoothmuscle_8a HPA Tissue Sample Gene Expression Profiles 1.0 0.912524 NCI-H345 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 2.43787 BRD-K79148949 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.38148 metformin-1 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CRCGN016_MCF10A.TP53.M_24H:F05 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.24698 disulfiram-1369 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null bp94 TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.959 TEAD4_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null HS 746T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.844804 GTEX-OHPM-0006-SM-2HMKU GTEx Tissue Sample Gene Expression Profiles -1.0 -1.81327 EPLC-272H Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.915741 BRD-K40164971 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.66272 SMC3 ENCODE Transcription Factor Targets 1.0 null AOB, glomerular layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.10666 BRD-K30594227 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.80553 abnormal shape of the frontal region HPO Gene-Disease Associations 1.0 null SMC3_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null MRK-NU-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null cerebellar cortex_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.01899 hsa-miR-320d TargetScan Predicted Nonconserved microRNA Targets 1.0 1.40969 lateral trapezoid nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -2.69391 exencephaly MPO Gene-Phenotype Associations 1.0 null POLR2A_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null parietal bone hypoplasia MGI Mouse Phenotype Associations 2023 1.0 null tardbp_19910924_hek293e_lof_human_gpl570_gds3730 GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations -1.0 -0.297019 abnormal renal physiology HPO Gene-Disease Associations 1.0 null PRKAR2A Pathway Commons Protein-Protein Interactions 1.0 null SMC3 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.0107512 AM 630 DeepCoverMOA Drug Mechanisms of Action 1.0 0.36 CEACAM7 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00552922 GSE184892_7_v_2_trehalose_human RummaGEO Drug Perturbation Signatures -1.0 null Cortical collecting duct cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.528 abnormality of dental morphology HPO Gene-Disease Associations 1.0 null autosomal genetic disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.615921 GTEX-RTLS-0326-SM-2TF6A GTEx Tissue Sample Gene Expression Profiles 1.0 0.868269 BRD-K70717477 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.26478 TGIF1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.56721 SU-DHL-8 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.17711 GTEX-X585-0005-SM-46MV3 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.19862 GTEX-WYJK-0326-SM-3NMA8 GTEx Tissue Sample Gene Expression Profiles 1.0 1.05428 ZNF384_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null cell COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.212974 Pheochromocytoma and Paraganglioma_PCPG_TCGA-TT-A6YN-01A-12R-A35L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GSE76425_0_v_3_lenalidomide_human RummaGEO Drug Perturbation Signatures 1.0 null PMC11046918-12967_2024_5211_MOESM4_ESM.xlsx-F_HT1080_FUS-DDIT3_regulated-Table_S2_Regulated_genes_between_scaffold-cultured_and_monolayer-cultured_cells_DDIT3 Rummagene Transcription Factor Associations 2026 1.0 null digits BioGPS Mouse Cell Type and Tissue Gene Expression Profiles -1.0 -0.908482 Pancreatic Cyst DisGeNET Gene-Disease Associations 1.0 null GSE228894_0_v_1_rnmt_mouse RummaGEO Gene Perturbation Signatures 1.0 null cleft secondary palate MGI Mouse Phenotype Associations 2023 1.0 null PMC7260947-pnas.1912355117.sd02.xlsx-Sheet1-1185_common_genes_in_D_E_genes_KD_and_AcAPE1_ACOGG1_G4_AR Rummagene Transcription Factor Associations 2026 1.0 null guaifenesin-4549 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null JHH-2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null GSE114883_1_v_5_romidepsin_human RummaGEO Drug Perturbation Signatures 1.0 null CRCGN017_MCF10A.TP53.M_24H:H09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.09826 SK-LMS-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null GTEX-OHPK-2426-SM-3MJGH GTEx Tissue Sample Gene Expression Profiles 1.0 1.97015 Lung adenocarcinoma_LUAD_TCGA-44-6148-11A-01R-1858-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CTCF_GM12871_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Stat5a JASPAR Predicted Mouse Transcription Factor Targets 2025 1.0 19.7938 H3K56ac_IMR90 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null ventricular (matrix) zone of cerebellum Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.43238 H3K4me3_WI38_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null cellular localization GO Biological Process Annotations 2015 1.0 null COV362_OVARY CCLE Cell Line Proteomics 1.0 2.44423 GSE234340_10_v_2_muc2_mouse RummaGEO Gene Perturbation Signatures -1.0 null FOXM1 ENCODE Transcription Factor Targets 1.0 null GSE231648_4_v_3_lsm14b_mouse RummaGEO Gene Perturbation Signatures -1.0 null Specific developmental disorder DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.543 FOXJ2::ELF1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 26.7003 short-rib thoracic dysplasia 10 with or without polydactyly DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.07 KCNK12 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.41939 H3K4me1_megakaryocyte_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null OUMS-23 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null CEBPB ChEA Transcription Factor Targets 1.0 null endometrium HPA Tissue Gene Expression Profiles 1.0 1.09526 sulfadiazine-5523 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null abnormal eye morphology HPO Gene-Disease Associations 1.0 null abnormality of the abdominal organs HPO Gene-Disease Associations 1.0 null GTEX-S32W-0726-SM-2XCBL GTEx Tissue Sample Gene Expression Profiles 1.0 1.126 GSE171292_1_v_0_ehhadh_mouse RummaGEO Gene Perturbation Signatures -1.0 null cytoskeleton COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.082426 GTEX-U3ZH-0005-SM-3DB72 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.08088 GSE114992,GSE114993_7_v_2_irf5_mouse RummaGEO Gene Perturbation Signatures -1.0 null SLC7A7 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00675713 GTEX-XQ3S-0426-SM-4BOOA GTEx Tissue Sample Gene Expression Profiles -1.0 -1.13616 CRCGN016_MCF10A.TP53.M_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 6.7506 H3K4me3_Jurkat_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Dwarfism DisGeNET Gene-Disease Associations 1.0 null aplasia/hypoplasia of fingers HPO Gene-Disease Associations 1.0 null posteroventral (inferior) parietal cortex_4 yrs_M_12298 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.05733 GTEX-T2IS-2926-SM-32QPO GTEx Tissue Sample Gene Expression Profiles 1.0 1.03256 male reproductive gland TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.333763 intermediate stratum of TTe Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.248 abnormality of the globe HPO Gene-Disease Associations 1.0 null H3K4me3_fibroblast of upper leg skin_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null primary motor-sensory cortex (samples)_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.933675 GSE81193_3_v_5_irf3_mouse RummaGEO Gene Perturbation Signatures 1.0 null GSE237040_4_v_5_notch3_mouse RummaGEO Gene Perturbation Signatures -1.0 null trichostatin A-992 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null intermediate stratum of r3Tr Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.10307 RT11284 CCLE Cell Line Gene CNV Profiles 1.0 1.43928 PMC6904118-NIHMS1544763-supplement-5.xlsx-MYB_Individual-MYB_sgRNA-5_MYB Rummagene Transcription Factor Associations 2026 1.0 null primary auditory cortex (core)_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -0.861217 Polycystin complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.729 H3K4me3_cerebellum_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null TGIF2LY JASPAR Predicted Human Transcription Factor Targets 2025 1.0 20.6221 cell projection COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 Bladder Urothelial Carcinoma_BLCA_TCGA-CU-A3QU-01A-11R-A22U-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BCL2L1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00363795 GSE226249_5_v_3_pirfenidone_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me1_limb_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null G121 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.16033 NCI-H322T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.19386 U-87-MG COSMIC Cell Line Gene Mutation Profiles 1.0 null SC 560 DeepCoverMOA Drug Mechanisms of Action 1.0 0.42 PMC6555970-40246_2019_210_MOESM1_ESM.xlsx-LF_genes_R_genes-Common_genes_in_all_R_species_not_found_in_common_genes_of_LF_species_LTF Rummagene Transcription Factor Associations 2026 1.0 null abnormality of calvarial morphology HPO Gene-Disease Associations 1.0 null GTEX-WRHK-0005-SM-3MJF5 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.19154 intraciliary transport particle a COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 1.92716 GSE158834_7_v_9_palmitic acid_human RummaGEO Drug Perturbation Signatures 1.0 null cleft secondary palate MPO Gene-Phenotype Associations 1.0 null BRD-K09499853_KU 0060648 trihydrochloride_HA1E_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null emboliform nucleus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -3.31005 t61-colon_consensus MoTrPAC Rat Endurance Exercise Training 1.0 1.32057 RAD21 ENCODE Transcription Factor Targets 1.0 null HT CCLE Cell Line Gene Expression Profiles 1.0 2.15905 embryonic organ development GO Biological Process Annotations 2015 1.0 null ARID3A_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K92927161 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.43501 protein localization GO Biological Process Annotations 2015 1.0 null GSE207122_1_v_0_metformin_human RummaGEO Drug Perturbation Signatures 1.0 null Liver Cyst DisGeNET Gene-Disease Associations 1.0 null abnormal vertebrae morphology MPO Gene-Phenotype Associations 1.0 null NB69 DepMap CRISPR Gene Dependency 1.0 6.51467 oculomotor nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.22556 Lung squamous cell carcinoma_LUSC_TCGA-98-A53A-01A-11R-A262-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BT474 Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles -1.0 -1.06774 GSE206226_2_v_3_cisplatin_human RummaGEO Drug Perturbation Signatures -1.0 null KLF13 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 64.4977 GTEX-RM2N-0006-SM-2TF5H GTEx Tissue Sample Gene Expression Profiles -1.0 -1.04947 KYSE150 CCLE Cell Line Gene CNV Profiles 1.0 1.54162 HCC1500 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.865148 TYK-NU Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.28915 orbital frontal cortex_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.3717 Bile duct disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.288 KMS-27 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.04706 ribavirin-6521 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null TestisSeminiferousTubule BioGPS Human Cell Type and Tissue Gene Expression Profiles 1.0 0.947428 hypoplastic ilia HPO Gene-Disease Associations 1.0 null abnormality of the nail HPO Gene-Disease Associations 1.0 null H3K23me2_H1 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null LY-294002-1065 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Precancerous Conditions CTD Gene-Disease Associations 1.0 1.84429 Pancreatic adenocarcinoma_PAAD_TCGA-3A-A9IL-01A-11R-A38C-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null protein localization to membrane GO Biological Process Annotations 2015 1.0 null posterior (caudal) superior temporal cortex (area 22c)_4 yrs_M_12298 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.81211 GTEX-S4Q7-1426-SM-3K2B9 GTEx Tissue Sample Gene Expression Profiles 1.0 0.870773 RAD21_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null cellular protein localization GO Biological Process Annotations 2015 1.0 null Short Long Bone DisGeNET Gene-Phenotype Associations 1.0 null CTCF_mammary epithelial cell_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null JHH-2 COSMIC Cell Line Gene Mutation Profiles 1.0 null CTCF_GM12865_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null ectopic digits MGI Mouse Phenotype Associations 2023 1.0 null GSE156115_0_v_3_igf2_mouse RummaGEO Gene Perturbation Signatures 1.0 null CHD1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null HCT-116 COSMIC Cell Line Gene Mutation Profiles 1.0 null bone marrow hypocellularity HPO Gene-Disease Associations 1.0 null U-2 OS Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.20729 Head and Neck squamous cell carcinoma_HNSC_TCGA-BA-A4IH-01A-11R-A266-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GSE142210_3_v_8_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null POLR2AphosphoS5_SK-N-MC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null solanine-4166 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null smoothened signaling pathway GO Biological Process Annotations 2015 1.0 null GTEX-S341-0226-SM-2XCAX GTEx Tissue Sample Gene Expression Profiles 1.0 0.981748 MAZ_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null connective tissue TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.053496 Eye disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.072 H3K4me1_CH12.LX_mm9_4 ENCODE Histone Modification Site Profiles 1.0 null GTEX-U3ZN-0326-SM-3DB86 GTEx Tissue Sample Gene Expression Profiles 1.0 0.957197 BRD-K42191735_buparlisib_HCC515_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null RPMI-8866 COSMIC Cell Line Gene Mutation Profiles 1.0 null GSE94849_6_v_2_pinometostat_human RummaGEO Drug Perturbation Signatures 1.0 null prostate cancer DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.074651 GSE147056_0_v_1_actl6b_mouse RummaGEO Gene Perturbation Signatures -1.0 null abnormality of limb bone HPO Gene-Disease Associations 1.0 null cilium organization GO Biological Process Annotations 2025 1.0 null BRD-A18328003_GDC-0980_PC3_24_h_0.37_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Accessory olfactory bulb, mitral layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.6782 TRIM28 ENCODE Transcription Factor Targets 1.0 null H3K4me1_CD4+ CD25+ CD127- Treg Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Atherosclerosis CTD Gene-Disease Associations 1.0 1.53675 SUP-T1 COSMIC Cell Line Gene Mutation Profiles 1.0 null H3K9ac_mammary epithelial cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null hydrochlorothiazide-1906 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K64890080_BI-2536_HA1E_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE179693,GSE179694_4_v_2_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null GSE166315_1_v_4_docetaxel_mouse RummaGEO Drug Perturbation Signatures 1.0 null duplication of hand bones HPO Gene-Disease Associations 1.0 null Autosomal genetic disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 TCF7L2_Panc1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-XOTO-0006-SM-4B64T GTEx Tissue Sample Gene Expression Profiles -1.0 -1.69547 GSE139540_4_v_1_menadione_human RummaGEO Drug Perturbation Signatures -1.0 null GSE224311_3_v_0_chaetocin_human RummaGEO Drug Perturbation Signatures -1.0 null Cytoplasmic microtubule COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.071 Bladder Urothelial Carcinoma_BLCA_TCGA-BL-A3JM-01A-12R-A21D-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null pectus excavatum HPO Gene-Disease Associations 1.0 null Bromfenac DeepCoverMOA Drug Mechanisms of Action -1.0 -0.68 SKBR3 CCLE Cell Line Gene CNV Profiles -1.0 -1.86747 GSE171837_0_v_3_bortezomib_human RummaGEO Drug Perturbation Signatures -1.0 null GSE142210_11_v_7_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null HLF CCLE Cell Line Gene CNV Profiles 1.0 1.48064 H3K4me3_GM12878_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null PHF8_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null cellular phenotype MPO Gene-Phenotype Associations 1.0 null DMS53 CCLE Cell Line Gene CNV Profiles 1.0 1.36439 finger clinodactyly HPO Gene-Disease Associations 1.0 null NCI-H1915 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.69852 GSE249146_2_v_3_dusp6_mouse RummaGEO Gene Perturbation Signatures -1.0 null SIN3A_H1-hESC_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null thin upper lip vermilion HPO Gene-Disease Associations 1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-EB-A3XB-01A-11R-A239-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-BB-4225-01A-01R-1436-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BXPC3 CCLE Cell Line Gene Expression Profiles -1.0 -1.70137 Retinal degeneration DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 5.0 GTEX-XPVG-0006-SM-4B65Z GTEx Tissue Sample Gene Expression Profiles -1.0 -1.46241 HMY-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.53721 Hydrolethalus syndrome 1 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.036 H3K4me3_kidney_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null CTCF_MCF-7_hg19_7 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE119603_1_v_0_oxaliplatin_human RummaGEO Drug Perturbation Signatures 1.0 null MXI1_IMR-90_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null RUNX3_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE166536_1_v_2_docetaxel_mouse RummaGEO Drug Perturbation Signatures -1.0 null TCF7 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 27.3661 GSE231799_2_v_1_nfkbie_mouse RummaGEO Gene Perturbation Signatures -1.0 null GTEX-RU72-0006-SM-2TF65 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.29713 Scotoma DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.206 BRD-K23200057 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.38394 MYC_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2A_HeLa-S3_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K78262424 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.1551 C2BBE1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.875673 BRD-K76706127 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.59965 AA-23-FM46_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.301221 H3K4me1_bone marrow macrophage_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null GSE207611,GSE207612_0_v_1_cisplatin_human RummaGEO Drug Perturbation Signatures 1.0 null Congenital Epicanthus DisGeNET Gene-Disease Associations 1.0 null GSE182680,GSE182683_10_v_13_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null H3K9ac_Brain Cingulate Gyrus Roadmap Epigenomics Histone Modification Site Profiles 1.0 null TPX2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.01048 Hepatobiliary disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.184 CTCF_thymus_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K27ac_T-cell acute lymphoblastic leukemia_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null ahl1 TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.355 BRD-A17065207_Brefeldin A_HA1E_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CD-05-PU90_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.286905 Fetal Growth Retardation CTD Gene-Disease Associations 1.0 1.12599 GTEX-XXEK-0926-SM-4BRWH GTEx Tissue Sample Gene Expression Profiles -1.0 -0.825565 BRD-K86935536 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.0136 CTCF_GM12878_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null tissues, cell types and enzyme sources TISSUES Experimental Tissue Protein Expression Evidence Scores 1.0 1.53602 CRCGN013_HEPG2_24H:D11 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.0359 thioridazine-422 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null vomeralnasalorgan.VMO. BioGPS Mouse Cell Type and Tissue Gene Expression Profiles 1.0 0.959223 VZ in superolateral temporal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.948417 acetazolamide-1808 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CRCGN017_MCF10A.TP53.M_24H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 7.47417 CRCGN016_MCF10A.WT.HP_24H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 6.29495 CRCGN015_MCF10A_48H:G13 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 4.03715 Retinal disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 Retinitis Pigmentosa DisGeNET Gene-Disease Associations 1.0 null Orofacial cleft DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.726 Skin Cutaneous Melanoma_SKCM_TCGA-GN-A264-06A-11R-A18U-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GSE135514_2_v_3_dasatinib_human RummaGEO Drug Perturbation Signatures 1.0 null GSE215086_3_v_7_batf_human RummaGEO Gene Perturbation Signatures 1.0 null GTEX-PX3G-2426-SM-48TZZ GTEx Tissue Sample Gene Expression Profiles 1.0 0.854498 GSE77108_4_v_9_saha_human RummaGEO Drug Perturbation Signatures -1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-B0-4847-01A-01R-1277-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null posterior (caudal) superior temporal cortex (area 22c)_16 pcw_M_12287 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.21396 TFEB ChEA Transcription Factor Targets 1.0 null CRCGN017_MCF10A.WT.HP_24H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 7.41795 BRD-A02501536 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.20435 everted lower lip vermilion HPO Gene-Disease Associations 1.0 null NDUFS5 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.11276 LY-294002-1054 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null VZ in thalamic region Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.9953 CAPAN-2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.958298 Kidney renal clear cell carcinoma_KIRC_TCGA-B0-5702-01A-11R-1541-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null skeletal muscle HPA Tissue Protein Expression Profiles -1.0 -0.772898 SAP30_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null photoreceptor connecting cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.716791 GSE193402_0_v_4_imatinib_human RummaGEO Drug Perturbation Signatures 1.0 null Kidney renal papillary cell carcinoma_KIRP_TCGA-DW-7839-01A-11R-2139-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K82791632 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.04087 H2AFZ_B cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null layer 2 of VPrP cortex Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.15032 CTCF_GM12873_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_choroid plexus epithelial cell_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-X5EB-0006-SM-46MV5 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.85201 ZNF24 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 57.9031 SLF2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.2663 CRCGN015_MCF10A_48H:B11 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.00166 hela HPA Cell Line Gene Expression Profiles 1.0 1.08004 inferior olive, medial nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.24741 GTEX-QDVJ-0005-SM-2TC5X GTEx Tissue Sample Gene Expression Profiles -1.0 -1.20737 HEP3B217 CCLE Cell Line Gene CNV Profiles 1.0 1.46957 BRD-K67868012_PI-103_HA1E_24_h_1.11_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Kinocilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.087 tubulointerstitial abnormality HPO Gene-Disease Associations 1.0 null GSE221327_8_v_11_clpp_human RummaGEO Gene Perturbation Signatures 1.0 null Hypogonadism DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.308 ELF1_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-R45C-0006-SM-3GAD6 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.66671 SDS LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00554192 Kidney disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 A204 BioGPS Cell Line Gene Expression Profiles 1.0 2.41625 JUND_HepG2_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null SW 1417 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.944888 EP300_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null JUND_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CyPPA DeepCoverMOA Drug Mechanisms of Action 1.0 0.4 BRD-K77519898 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.8385 SG in midlateral temporal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.38027 abnormality of multiple cell lineages in the bone marrow HPO Gene-Disease Associations 1.0 null intraflagellar GeneRIF Biological Term Annotations 1.0 null mammillary body, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -0.887569 CEBPB_IMR-90_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null KMS-11 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.986061 Sarcoma_SARC_TCGA-KD-A5QT-01A-11R-A27Q-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K34475679 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.22291 GTEX-U4B1-0006-SM-3DB8E GTEx Tissue Sample Gene Expression Profiles -1.0 -1.06675 hsa-miR-548k TargetScan Predicted Nonconserved microRNA Targets 1.0 0.880544 GTEX-T2YK-0005-SM-32QOV GTEx Tissue Sample Gene Expression Profiles -1.0 -1.01504 BRD-K51322795 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.30589 H3K4me3_WI38_hg19_4 ENCODE Histone Modification Site Profiles 1.0 null POLR2A_MEL cell line_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null localization GO Biological Process Annotations 2015 1.0 null Lef1 JASPAR Predicted Mouse Transcription Factor Targets 2025 1.0 17.2914 BRD-K87920761 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.60299 NELFE ENCODE Transcription Factor Targets 1.0 null LBP-1 MotifMap Predicted Transcription Factor Targets 1.0 null CRCGN015_MCF10A.WT.HP_24H:H01 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.08002 Sarcoma_SARC_TCGA-PT-A8TR-01A-11R-A37L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PML_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null dorsolateral prefrontal cortex_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.25576 craniosynostosis HPO Gene-Disease Associations 1.0 null hsa-miR-4427 TargetScan Predicted Nonconserved microRNA Targets 1.0 1.13535 Abnormality Of Bone Mineral Density DisGeNET Gene-Disease Associations 1.0 null HCC4006 CCLE Cell Line Gene Expression Profiles -1.0 -2.68619 bisoprolol-2642 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null abnormal shape of the occiput HPO Gene-Disease Associations 1.0 null MAX_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null CDK2_knockdown_132_GSE31534 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 1.05002 RD-90-OY66_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.330019 mepenzolate bromide-6024 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null PMC12254391-41598_2025_8960_MOESM5_ESM.xlsx-Suppl_Table_6_DEG-Supplemental_Table_6_Differentially_Expressed_Genes_DEG_between_siRNA_DLX4_and_siRNA_control_n_3_RA_FLS_cell_lines_per_treatment_group_DLX4 Rummagene Transcription Factor Associations 2026 1.0 null CREB1 ENCODE Transcription Factor Targets 1.0 null orbital frontal cortex_36 yrs_M_12302 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.61169 BRD-K60662039 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.60265 superficial stratum of r3Tr Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.55608 hsa-miR-3916 TargetScan Predicted Conserved microRNA Targets 1.0 0.828473 GSE139455_4_v_6_stat3_human RummaGEO Gene Perturbation Signatures 1.0 null 5182598-976 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K27139040 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.13059 H3K4me3_testis_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null abnormal cell morphology MPO Gene-Phenotype Associations 1.0 null Mouth disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.107 hsa-miR-4666-5p TargetScan Predicted Nonconserved microRNA Targets 1.0 0.880544 GSE182680,GSE182683_5_v_12_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null RAD21_A549_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormal ear morphology MPO Gene-Phenotype Associations 1.0 null Bladder Urothelial Carcinoma_BLCA_TCGA-CU-A3KJ-01A-11R-A21D-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null mafenide-5079 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null dorsolateral prefrontal cortex_16 pcw_M_12287 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.23293 HCN3 Pathway Commons Protein-Protein Interactions 1.0 null BRD-A65592966 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.04476 Subiculum, dorsal part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.35605 Treprostinil DeepCoverMOA Drug Mechanisms of Action -1.0 -0.21 NF-Y MotifMap Predicted Transcription Factor Targets 1.0 null Perturb_4969_KO_Setdb1_SRP226379 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -5.66671 Nuclear pore linkers COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.845 disease GWASdb SNP-Disease Associations 1.0 0.024442 skeletalmuscle_d HPA Tissue Sample Gene Expression Profiles -1.0 -1.35671 complete lethality throughout fetal growth and development MPO Gene-Phenotype Associations 1.0 null CTCF_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormal elasticity of skin HPO Gene-Disease Associations 1.0 null NCI-H446 COSMIC Cell Line Gene Mutation Profiles 1.0 null Rectum adenocarcinoma_READ_TCGA-EI-6885-01A-11R-1928-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Nuclear envelope adjacent to nuclear pore complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.739 Chromosome 17q12 duplication syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.262 GTEX-S7SF-0006-SM-3K2B6 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.931153 organ system cancer DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.039427 SIN3B ChEA Transcription Factor Targets 1.0 null GSE226249_0_v_8_pirfenidone_human RummaGEO Drug Perturbation Signatures -1.0 null 16207381-Table1Sb GeneSigDB Published Gene Signatures 1.0 null BRD-K88670720 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.51613 TM31 CCLE Cell Line Gene CNV Profiles 1.0 1.71199 STAT5A_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null ELF1_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null SFPI1-20887958-HPC-7-MOUSE ChEA Transcription Factor Binding Site Profiles 1.0 null Acute Myeloid Leukemia_LAML_TCGA-AB-2994-03A-01T-0735-13 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Lung adenocarcinoma_LUAD_TCGA-91-6828-11A-01R-1858-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PMC6928094-395_2019_765_MOESM6_ESM.xlsx-DEGs_AR11_vs_AR7-List_of_differentially_expressed_genes_in_AR11_vs_AR7_Negative_value_means_down-regulation_in_AR11_THRA Rummagene Transcription Factor Associations 2026 1.0 null Main olfactory bulb, inner plexiform layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.16987 blood GTEx Tissue Gene Expression Profiles -1.0 -1.97513 hif2a_16565084_mcf7_lof_human_gpl2507_gds2761 GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations 1.0 1.47694 GSE229973_4_v_7_cisplatin_human RummaGEO Drug Perturbation Signatures -1.0 null Liver hepatocellular carcinoma_LIHC_TCGA-UB-A7MA-01A-11R-A33R-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null embryonic lethality during organogenesis MPO Gene-Phenotype Associations 1.0 null GSE123861_1_v_0_sin3a_human RummaGEO Gene Perturbation Signatures 1.0 null KS-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null GSE112760,GSE112767_1_v_5_ddx6_mouse RummaGEO Gene Perturbation Signatures 1.0 null HT-115 COSMIC Cell Line Gene Mutation Profiles 1.0 null Hereditary ataxia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.036 H3K27ac_olfactory bulb_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null GSE164874_5_v_4_prednisolone_human RummaGEO Drug Perturbation Signatures -1.0 null BHLHE40_HepG2_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-RU1J-1026-SM-46MUR GTEx Tissue Sample Gene Expression Profiles 1.0 0.888907 GTEX-WHSB-0005-SM-3LK7C GTEx Tissue Sample Gene Expression Profiles -1.0 -2.23921 cefuroxime-6261 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE119345_2_v_3_bexarotene_human RummaGEO Drug Perturbation Signatures 1.0 null Lower respiratory tract disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.046 GTEX-PLZ5-1726-SM-2I5F6 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.849695 Proteinuria CTD Gene-Disease Associations 1.0 1.30421 AD-16-HL96_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.383706 ventromedial hypothalamic nucleus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.20933 BRD-K40494117 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.23109 Kidney renal clear cell carcinoma_KIRC_TCGA-CZ-4857-01A-01R-1305-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null superficial stratum of r3BI Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.43831 H3K4me3_GM06990_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null HCC364 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.5438 Prostate adenocarcinoma_PRAD_TCGA-EJ-5525-01A-01R-1580-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K12502280_TG101348_HT29_24.0_h_11.1_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormality of the nasal alae HPO Gene-Disease Associations 1.0 null BRD-K93488589 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.42093 CTCF_mammary epithelial cell_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE144231_2_v_1_cxcr2_mouse RummaGEO Gene Perturbation Signatures -1.0 null GTEX-QDVN-1126-SM-48TZ7 GTEx Tissue Sample Gene Expression Profiles 1.0 1.02491 abnormality of the fingernails HPO Gene-Disease Associations 1.0 null BRD-K98005735 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.22085 BRD-K05057860 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.18304 Lung adenocarcinoma_LUAD_TCGA-55-8513-01A-11R-2403-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null midecamycin-2026 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE126463_4_v_2_pomalidomide_human RummaGEO Drug Perturbation Signatures 1.0 null primary somatosensory cortex (area S1, areas 3,1,2)_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.76137 TBP ENCODE Transcription Factor Targets 1.0 null clinodactyly of the 5th finger HPO Gene-Disease Associations 1.0 null H3K9ac_liver_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-QVJO-0526-SM-447CE GTEx Tissue Sample Gene Expression Profiles 1.0 0.993448 GTEX-T6MN-0626-SM-32PM9 GTEx Tissue Sample Gene Expression Profiles 1.0 0.916148 GSE122711_2_v_3_mpc1_mouse RummaGEO Gene Perturbation Signatures 1.0 null H3K4me1_brown adipose tissue_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null Chromosomal duplication syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.028 BRD-K34581968_BMS-536924_MCF7_24.0_h_11.1_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K31337291 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.59781 valproic acid_homo sapiens_gpl6883_gse26940 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null A-Vietnam-1203_CIP048_RG4-2004(H5N1)NS1trunc124_2day-MOI-10^3_None_GSE44445 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 2.23866 GTEX-WYVS-2326-SM-3NMAI GTEx Tissue Sample Gene Expression Profiles -1.0 -1.00102 A-Vietnam-1203_CIP048_RG4-2004(H5N1)NS1trunc124_2day-MOI-10^4_None_GSE44445 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 3.21551 H3K4me1_Bone Marrow Derived Mesenchymal Stem Cell Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null abnormality of the ribs HPO Gene-Disease Associations 1.0 null BRD-K50721666 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.07632 Cardiovascular system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.238 GTEX-S32W-1326-SM-4AD5Q GTEx Tissue Sample Gene Expression Profiles 1.0 1.75428 BRD-K23196166 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.52061 GSE198165,GSE198166_5_v_3_zfp266_mouse RummaGEO Gene Perturbation Signatures -1.0 null PK-45P Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.23139 SNU16 CCLE Cell Line Gene CNV Profiles -1.0 -1.49143 Prostate adenocarcinoma_PRAD_TCGA-V1-A8WV-01A-11R-A37L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K56739005 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.65305 REST_neural cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-SIU7-1126-SM-2XCDW GTEx Tissue Sample Gene Expression Profiles 1.0 1.36823 abnormal autopod morphology MPO Gene-Phenotype Associations 1.0 null BRD-A88691416 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.03562 nalbuphine-1379 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null trichostatin A-7453 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE182680,GSE182683_10_v_3_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K42918627_GSK-2126458_HME1_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null POU4F1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 42.2143 primary visual cortex (striate cortex, area V1/17)_12 pcw_F_13060 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.12566 GTEX-PLZ5-0006-SM-2S1NZ GTEx Tissue Sample Gene Expression Profiles -1.0 -0.963697 GSE145790_0_v_1_bruceantin_human RummaGEO Drug Perturbation Signatures -1.0 null NCI-SNU-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null GTEX-X8HC-2726-SM-46MUA GTEx Tissue Sample Gene Expression Profiles 1.0 1.63575 GSE213588_9_v_4_trametinib_human RummaGEO Drug Perturbation Signatures 1.0 null GSE114883_0_v_5_romidepsin_human RummaGEO Drug Perturbation Signatures 1.0 null valproic acid_homo sapiens_gpl570_gse14973 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K98625375 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.12534 abnormality of digit HPO Gene-Disease Associations 1.0 null GSE158834_11_v_8_palm_human RummaGEO Gene Perturbation Signatures -1.0 null AR-19668381-PC3-HUMAN ChEA Transcription Factor Targets 2022 1.0 null H3K4me3_CD34 Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null BRD-K66577743 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.18296 cell part LOCATE Predicted Protein Localization Annotations 1.0 null abnormality of upper lip vermillion HPO Gene-Disease Associations 1.0 null GSE144231_3_v_5_cxcr2_mouse RummaGEO Gene Perturbation Signatures 1.0 null GTEX-R55F-0011-R8A-SM-2TF4F GTEx Tissue Sample Gene Expression Profiles 1.0 1.01799 4-Methoxybenzoic acid DeepCoverMOA Drug Mechanisms of Action 1.0 0.3 Microtubule bundle COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.769 GTEX-S341-0726-SM-4AD5R GTEx Tissue Sample Gene Expression Profiles 1.0 1.03251 stratum lacunosum-moleculare of rostral CA1 Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.956481 nuclear part GO Cellular Component Annotations 2015 1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-DA-A1HV-06A-21R-A18S-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null ventrolateral prefrontal cortex_8 yrs_M_12981 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.56085 CHD2 ENCODE Transcription Factor Targets 1.0 null Chronic kidney disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.765 NCIH1395 CCLE Cell Line Gene Expression Profiles -1.0 -2.43774 ZR7530 Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles -1.0 -0.902027 abnormality of blood and blood-forming tissues HPO Gene-Disease Associations 1.0 null GSE126463_0_v_3_pomalidomide_human RummaGEO Drug Perturbation Signatures 1.0 null single-organism cellular process GO Biological Process Annotations 2015 1.0 null Amniocyte TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.28 POLR2A_NB4_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null SOCS3_KO_GDS3149_297_mouse_liver GEO Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 null BRD-K48488978_YM-201636_HS578T_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-S341-0006-SM-3NM8D GTEx Tissue Sample Gene Expression Profiles -1.0 -2.61387 Senior-Loken syndrome ClinVar Gene-Phenotype Associations 2025 1.0 null BRD-K11442063 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.262 PL45 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.843171 GSE147662_0_v_1_nicotinamide_mouse RummaGEO Drug Perturbation Signatures 1.0 null BRD-K24387453 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.49545 GTEX-VUSH-0005-SM-3NB2H GTEx Tissue Sample Gene Expression Profiles -1.0 -1.35662 BRD-K27610371 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.00735 H3K4me3_fibroblast of gingiva_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null Poisoning CTD Gene-Disease Associations 1.0 1.27132 GTEX-PWCY-0005-SM-33HBP GTEx Tissue Sample Gene Expression Profiles -1.0 -2.26616 Limb bud TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.339 trichostatin A-2794 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE188721_2_v_4_mesp1_human RummaGEO Gene Perturbation Signatures -1.0 null GSE133505_5_v_4_myf6_mouse RummaGEO Gene Perturbation Signatures 1.0 null RKO-E6 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null BRD-K50094173 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.44915 Perturb_3369_KO_Zc3h12a_SRP183512 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -2.73284 GTEX-TKQ2-0826-SM-33HB6 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.880673 abnormality of body height HPO Gene-Disease Associations 1.0 null chr4_39152216_G_A_b38 GTEx eQTL 2025 1.0 1.42758 WIDR Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.08101 GSE126463_4_v_2_arid2_human RummaGEO Gene Perturbation Signatures 1.0 null sirolimus-1001 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Ciliated cell_Trachea_Mouse CellMarker Gene-Cell Type Associations 1.0 null NRF1 Pathway Commons Protein-Protein Interactions 1.0 null GSE166315_5_v_4_docetaxel_mouse RummaGEO Drug Perturbation Signatures 1.0 null BRD-K51843685 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.08882 GSE126777_3_v_1_otub1_mouse RummaGEO Gene Perturbation Signatures -1.0 null tubulointerstitial nephritis HPO Gene-Disease Associations 1.0 null GTEX-POMQ-1426-SM-3P61D GTEx Tissue Sample Gene Expression Profiles 1.0 0.953749 short thorax HPO Gene-Disease Associations 1.0 null GSE219195_1_v_3_rbm12_human RummaGEO Gene Perturbation Signatures -1.0 null cardiovascular system disease GWASdb SNP-Disease Associations 1.0 0.056561 POLR2A_small intestine_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Perturb_15888_Mut_Tbx5_SRP306874 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations 1.0 1.3656 GSE213588_10_v_11_trametinib_human RummaGEO Drug Perturbation Signatures 1.0 null superficial stratum of AOB Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.10726 MAX_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null PMC4632482-13039_2015_190_MOESM3_ESM.xlsx-Part_C_63_genes_with_AR-Unnamed_1_AR Rummagene Transcription Factor Associations 2026 1.0 null GSE145639_7_v_2_adar_human RummaGEO Gene Perturbation Signatures 1.0 null GTEX-N7MT-1226-SM-2D7W4 GTEx Tissue Sample Gene Expression Profiles 1.0 0.985546 BRD-K00920341 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.23353 DUX4 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.09337 AOB, mitral cell layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.73695 organelle assembly GO Biological Process Annotations 2015 1.0 null HCC1937 CCLE Cell Line Gene Expression Profiles -1.0 -1.64203 BRD-K33606963 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.01673 BRD-K27620386 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.70695 CTCF_NB4_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Collecting duct cell line TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.972 BRD-K51757923 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.12794 GTEX-WVLH-0011-R11A-SM-3MJFO GTEx Tissue Sample Gene Expression Profiles 1.0 0.864937 retinitis pigmentosa HPO Gene-Disease Associations 1.0 null PAX5_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Microtubule end COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.906 Anterior amygdalar area Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.0885 single-organism intracellular transport GO Biological Process Annotations 2015 1.0 null RAD21_ECC-1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE199874_4_v_5_gabpb1_mouse RummaGEO Gene Perturbation Signatures -1.0 null CTCF_HepG2_hg19_5 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-U64521890_XMD16-144_HS578T_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Prostatic Neoplasms CTD Gene-Disease Associations 1.0 1.07518 GTEX-PVOW-0626-SM-2XCF6 GTEx Tissue Sample Gene Expression Profiles 1.0 1.04878 EID1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.95716 BRD-K31883990 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.69679 BL6690 (KDM5D) NURSA Protein Complexes 1.0 null metformin-2 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null ventrolateral prefrontal cortex_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.853024 ZKSCAN1 ENCODE Transcription Factor Targets 1.0 null abnormal hindlimb zeugopod morphology MPO Gene-Phenotype Associations 1.0 null troglitazone-431 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null dr86 TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.913 KYAE-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null AC-7954 DeepCoverMOA Drug Mechanisms of Action 1.0 0.42 internal male genital organ TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.324239 nalidixic acid-7367 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null USF1_A549_hg19_5 ENCODE Transcription Factor Binding Site Profiles 1.0 null E2F4_MCF 10A_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Polydactyly DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.947 methoxsalen-5007 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null genetic disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.774932 SNU-398 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.831863 H3K4me3_Brain Anterior Caudate Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Cone-Shaped Epiphysis DisGeNET Gene-Phenotype Associations 1.0 null 8505C DepMap CRISPR Gene Dependency 1.0 2.05185 GSE184087_4_v_5_tert_human RummaGEO Gene Perturbation Signatures -1.0 null Obesity DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.18 MEWO COSMIC Cell Line Gene Mutation Profiles 1.0 null POLR2AphosphoS5_neural cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-DQ-7593-01A-11R-2232-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null postaxial hand polydactyly HPO Gene-Disease Associations 1.0 null NCI-H1882 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.37875 BRD-K58044926 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.06928 GSE93309_1_v_4_prmt1_mouse RummaGEO Gene Perturbation Signatures 1.0 null GSE149769_1_v_0_nlrp12_mouse RummaGEO Gene Perturbation Signatures 1.0 null single-multicellular organism process GO Biological Process Annotations 2015 1.0 null chr4_39242642_C_T_b38 GTEx eQTL 2025 1.0 1.68921 CTCF_foreskin fibroblast_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GATA1::TAL1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 33.6258 abnormality of urine homeostasis HPO Gene-Disease Associations 1.0 null broad phalanges of the hand HPO Gene-Disease Associations 1.0 null Nervous system TISSUES Curated Tissue Protein Expression Evidence Scores 2025 1.0 4.0 IL13RA1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.0045338 BRD-K66253165 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.24662 T-T COSMIC Cell Line Gene Mutation Profiles 1.0 null GSE154577_2_v_10_plagl1_human RummaGEO Gene Perturbation Signatures -1.0 null ciliary receptor clustering involved in smoothened signaling pathway GO Biological Process Annotations 2015 1.0 null levcycloserine-4524 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GTEX-RNOR-2426-SM-48FDY GTEx Tissue Sample Gene Expression Profiles 1.0 1.82602 CRCGN015_MCF10A_48H:G15 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 6.39345 CRCGN016_MCF10A.WT.HP_24H:P10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.21145 GTEX-RU72-0011-R11A-SM-2TF6J GTEx Tissue Sample Gene Expression Profiles 1.0 0.881221 BRD-K53770426 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.31685 TEAD4_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN015_MCF10A.TP53.M_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 7.28445 GSE178714_1_v_2_smad2_human RummaGEO Gene Perturbation Signatures 1.0 null GTEX-S4P3-0006-SM-3K2AW GTEx Tissue Sample Gene Expression Profiles -1.0 -1.66511 GTEX-WFG7-0005-SM-3GIKM GTEx Tissue Sample Gene Expression Profiles -1.0 -1.06716 PMC10070455-41598_2023_32568_MOESM3_ESM.xlsx-Genes_AA-genes_TEAD1 Rummagene Transcription Factor Associations 2026 1.0 null Cardiovascular Diseases CTD Gene-Disease Associations 1.0 1.20881 Cognitive function GWAS Catalog SNP-Phenotype Associations 1.0 0.255654 Head and Neck squamous cell carcinoma_HNSC_TCGA-BA-5559-01A-01R-1514-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null MAF::NFE2 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 22.0174 subparafascicular nucleus of thalamus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.7279 496100508_PCx_possible Alzheimer's disease_no TBI_90-94_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.19763 NCI-H520 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.42912 GSE186460_3_v_6_baricitinib_human RummaGEO Drug Perturbation Signatures -1.0 null QF-71-QI30_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.201277 growth/size/body phenotype MPO Gene-Phenotype Associations 1.0 null OVCAR5 BioGPS Cell Line Gene Expression Profiles -1.0 -1.02237 GSE157894_2_v_0_cystine_human RummaGEO Drug Perturbation Signatures -1.0 null dorsolateral prefrontal cortex_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.955124 GTEX-WFON-0005-SM-3NMC9 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.63498 Tapetum lucidum TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.781 small interparietal bone MPO Gene-Phenotype Associations 1.0 null small premaxilla MPO Gene-Phenotype Associations 1.0 null amodiaquine-5747 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Sensorimotor dexterity GWAS Catalog SNP-Phenotype Associations 2025 1.0 0.569897 GTF2F1 ENCODE Transcription Factor Targets 1.0 null BRD-K47415214 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.18235 BRD-A06837695 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.99001 preoptic region, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.977608 CRCGN008_HEPG2_24H:I13 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.0378 periventricular stratum of p3ZL Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.10468 H3K9ac_GM12878_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null abnormality of the ocular region HPO Gene-Disease Associations 1.0 null abnormal survival MPO Gene-Phenotype Associations 1.0 null CTCF_Caco-2_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null trichostatin A-4710 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null renal hypoplasia/aplasia HPO Gene-Disease Associations 1.0 null GSE135030_8_v_7_fludarabine_human RummaGEO Drug Perturbation Signatures 1.0 null CTCF_MCF-7_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null trichostatin A-6276 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE186223,GSE186224_6_v_3_hmces_mouse RummaGEO Gene Perturbation Signatures -1.0 null GTEX-TMZS-0006-SM-3DB8G GTEx Tissue Sample Gene Expression Profiles -1.0 -1.17726 REST_A549_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE221327_8_v_2_clpp_human RummaGEO Gene Perturbation Signatures 1.0 null A-CA-04-2009(H1N1)_30Hour_None_GSE37571 GEO Signatures of Differentially Expressed Genes for Viral Infections -1.0 -1.46236 H3K4me3_mammary epithelial cell_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null GTEX-RTLS-2426-SM-46MUO GTEx Tissue Sample Gene Expression Profiles 1.0 2.08481 embryo development GO Biological Process Annotations 2015 1.0 null extends GeneRIF Biological Term Annotations 1.0 null ciliary cytoplasm COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.522659 trichostatin A-1153 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Perturb_4849_KD_ZEB2_SRP059197 PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 -2.352 BRD-K00502422 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.02725 periventricular stratum of TTe Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.19427 ZBTB33_HCT116_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormal somite development MPO Gene-Phenotype Associations 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-63-A5MH-01A-12R-A27Q-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-XQ3S-1126-SM-4BOPK GTEx Tissue Sample Gene Expression Profiles -1.0 -0.838997 SCC-25 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.984781 ES2 CCLE Cell Line Gene CNV Profiles 1.0 1.73438 A-Vietnam-1203_CIP048_RG4-2004(H5N1)PB2-627E_4day-MOI-10^4_None_GSE43301 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 1.73071 GSE131649_4_v_5_hemin_human RummaGEO Drug Perturbation Signatures -1.0 null EFO-27 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.09458 TAL1-20887958-HPC-7-MOUSE ChEA Transcription Factor Targets 2022 1.0 null GSE126621,GSE126920_1_v_3_dppa4_mouse RummaGEO Gene Perturbation Signatures 1.0 null BRD-K37848780 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.30574 abnormal supraoccipital bone morphology MPO Gene-Phenotype Associations 1.0 null GSE87412,GSE92423_0_v_4_dnmt3a_mouse RummaGEO Gene Perturbation Signatures 1.0 null BRD-K68174511_torin-2_A375_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null YY1_HCT116_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Liver hepatocellular carcinoma_LIHC_TCGA-BC-A8YO-01A-11R-A37K-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null remoxipride-6503 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null ZNF682 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.43178 periventricular stratum of r6BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.18145 PRMT6 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00634004 T47D COSMIC Cell Line Gene Mutation Profiles 1.0 null BRD-K63778487 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.58223 Johnston's organ TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.363 GSE118816_0_v_1_myo1c_human RummaGEO Gene Perturbation Signatures 1.0 null GSE115542_5_v_4_digoxin_human RummaGEO Drug Perturbation Signatures 1.0 null nitrofural-3320 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Dentate gyrus, polymorph layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.2112 RAD21_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-A26952628 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.06134 IX, left, lateral hemisphere Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.925912 short-rib thoracic dysplasia 11 with or without polydactyly DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.274 GSE137325_3_v_0_copanlisib_human RummaGEO Drug Perturbation Signatures 1.0 null Isolated cleft palate DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.044 BRD-K96295480 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.58009 H3K4me1_Fetal Lung Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GTEX-R55E-0006-SM-2TC5G GTEx Tissue Sample Gene Expression Profiles -1.0 -0.982633 Dorsal tegmental nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.59267 GSE94849_1_v_4_pinometostat_human RummaGEO Drug Perturbation Signatures 1.0 null HERC4 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.22136 SGO1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.03531 lung HPA Tissue Protein Expression Profiles -1.0 -0.772898 cellular_component COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.168598 intracellular organelle part COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.046427 Head and Neck squamous cell carcinoma_HNSC_TCGA-BA-5153-01A-01R-1436-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null POLR2A_A549_hg19_5 ENCODE Transcription Factor Binding Site Profiles 1.0 null PAX5_GM12891_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-WWYW-0005-SM-3NB3K GTEx Tissue Sample Gene Expression Profiles -1.0 -2.34657 MLXIPL CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.1391 BT-474 COSMIC Cell Line Gene Mutation Profiles 1.0 null abnormal involuntary eye movements HPO Gene-Disease Associations 1.0 null BRD-K68174511_-666_ASC_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null gallbladder HPA Tissue Protein Expression Profiles 1.0 1.06804 abnormal cranium morphology MGI Mouse Phenotype Associations 2023 1.0 null HCC1599 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.8835 trichostatin A-1835 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_WI38_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null CTCF_fibroblast of pulmonary artery_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null EZH2 ENCODE Transcription Factor Targets 1.0 null GTEX-SUCS-0226-SM-32PLQ GTEx Tissue Sample Gene Expression Profiles 1.0 1.47671 Genes related to primary cilium development based on CRISPR WikiPathways Pathways 2024 1.0 null streptozocin-7193 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K27540772 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.07394 CTCF_IMR-90_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE205729,GSE205731_2_v_1_tazemetostat_human RummaGEO Drug Perturbation Signatures 1.0 null JUND_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null PIDD1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.02874 primary cilium COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.237908 MKN1_STOMACH CCLE Cell Line Proteomics 1.0 5.73663 CEBPB-22108803-LS180-HUMAN ChEA Transcription Factor Targets 2022 1.0 null VZ in caudal subicular cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.42353 r2 part of trigeminal transition zone Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.97145 GSE242290_1_v_11_glutathione_human RummaGEO Drug Perturbation Signatures -1.0 null BRD-K23629581 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.60022 CCR2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00594883 primary visual cortex (striate cortex, area V1/17)_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.09844 POLR2A_GM12891_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K27ac_osteoblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GSE183335,GSE183351_1_v_0_lin28b_human RummaGEO Gene Perturbation Signatures -1.0 null primary auditory cortex (core)_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 2.17823 H3K4me3_ES-Bruce4_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null Cerebellar ataxia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.048 abdominal symptom HPO Gene-Disease Associations 1.0 null CHAGO-K-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null GSE210101,GSE210114_5_v_9_urod_human RummaGEO Gene Perturbation Signatures 1.0 null NCIH1373 CCLE Cell Line Gene CNV Profiles 1.0 2.03871 H3K4me3_H1 BMP4 Derived Trophoblast Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Stereocilium bundle COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.939 POLR2A_HeLa-S3_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-P4QT-2426-SM-3NMCL GTEx Tissue Sample Gene Expression Profiles 1.0 2.81465 GSE210101,GSE210114_5_v_3_urod_human RummaGEO Gene Perturbation Signatures 1.0 null GSE94849_6_v_4_pinometostat_human RummaGEO Drug Perturbation Signatures 1.0 null BACH1_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null NCOR-22465074-MACROPHAGES-MOUSE ChEA Transcription Factor Targets 2022 1.0 null GSE240109_0_v_1_sorafenib_human RummaGEO Drug Perturbation Signatures -1.0 null Whole body TISSUES Curated Tissue Protein Expression Evidence Scores 2025 1.0 4.0 Dyslipidemias CTD Gene-Disease Associations 1.0 1.09681 Lung squamous cell carcinoma_LUSC_TCGA-56-8309-11A-01R-2296-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Signal recognition particle, endoplasmic reticulum targeting COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.405 myopia HPO Gene-Disease Associations 1.0 null H3K4me3_choroid plexus epithelial cell_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null micromelia HPO Gene-Disease Associations 1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-D3-A1Q5-06A-11R-A18T-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null ATF2_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null r6 part of paragigantocellular nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.17635 MEL-JUSO COSMIC Cell Line Gene Mutation Profiles 1.0 null Anterior cingulate area, dorsal part, layer 6a Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.02324 intraciliary transport GO Biological Process Annotations 2015 1.0 null GTEX-XQ8I-0006-SM-4BOQ5 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.44531 BRD-K42918627_GSK-2126458_HA1E_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null HOXB4 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 14.847 CRCGN017_MCF10A.WT.HP_24H:P08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.62745 USF1_A549_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null jeune GeneRIF Biological Term Annotations 1.0 null Rhizomelia DisGeNET Gene-Disease Associations 1.0 null TAF1_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K22875065 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.34564 GTEX-U4B1-0626-SM-3DB8L GTEx Tissue Sample Gene Expression Profiles 1.0 1.00581 eclabion HPO Gene-Disease Associations 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-22-5489-11A-01R-1635-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K79me2_HeLa-S3_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null MAX_H1-hESC_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null MZ in rostral midinferior temporal cortex (area 36) Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.73465 SKBR3 DepMap CRISPR Gene Dependency 1.0 2.19533 thin vermilion border HPO Gene-Disease Associations 1.0 null ZNF274 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 22.108 GSE201217_4_v_6_usf2_mouse RummaGEO Gene Perturbation Signatures -1.0 null HCC4006 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -2.65617 BRD-K98169006 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.1152 H3K4me1_Brain Hippocampus Middle Roadmap Epigenomics Histone Modification Site Profiles 1.0 null TCF7L2_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null C15orf39 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.1738 mantle zone of r5BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.5098 embryonic lethality MPO Gene-Phenotype Associations 1.0 null H3K4me1_Adult Kidney Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Cco TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.763 SK-MEL-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 2.5387 BL3172 (MAVS) NURSA Protein Complexes 1.0 null GSE186483_2_v_0_lrrk2_mouse RummaGEO Gene Perturbation Signatures -1.0 null SR 27897 DeepCoverMOA Drug Mechanisms of Action -1.0 -0.49 ABC1_LUNG CCLE Cell Line Proteomics 1.0 4.36992 ovary HPA Tissue Protein Expression Profiles -1.0 -0.772898 USF2_MEL cell line_mm9_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null WC-16-IR43_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.370504 Olfactory receptor neuron TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.195 GTEX-TSE9-2926-SM-3DB77 GTEx Tissue Sample Gene Expression Profiles 1.0 0.888971 CRCGN011_HEPG2_24H:M17 Carcinogenome Chemical Perturbation Carcinogenicity Signatures -1.0 -2.00015 GTEX-WFG8-2526-SM-3GILR GTEx Tissue Sample Gene Expression Profiles 1.0 0.870125 BRD-K86774687 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.612 hsa-miR-320a TargetScan Predicted Nonconserved microRNA Targets 1.0 1.40969 BRD-K61796560 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.23483 Organelle biogenesis and maintenance Reactome Pathways 2014 1.0 null TBP_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_kidney epithelial cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN014_HEPG2_24H:N12 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.20796 BRD-K63859730 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.08501 RELB LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00866232 STK33_NOMO MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations 1.0 null abnormal craniofacial bone morphology MPO Gene-Phenotype Associations 1.0 null BRD-K32444429 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.79374 GSE131798,GSE131804_5_v_0_igf1_mouse RummaGEO Gene Perturbation Signatures -1.0 null H3K4me3_HCT116_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null GSE131649_6_v_5_hemin_human RummaGEO Drug Perturbation Signatures -1.0 null GSE66014_0_v_1_perhexiline_human RummaGEO Drug Perturbation Signatures 1.0 null Osteochondrodysplasia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.019 abnormal facial morphology MPO Gene-Phenotype Associations 1.0 null LY-294002-5224 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Paraflagellar rod COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.835 CRCGN010_HEPG2_24H:K08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.0252 TAF1_SK-N-SH_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-T6MN-0005-SM-32PLJ GTEx Tissue Sample Gene Expression Profiles -1.0 -1.67227 abnormal axial skeleton morphology HPO Gene-Disease Associations 1.0 null growth delay HPO Gene-Disease Associations 1.0 null HCT-15 COSMIC Cell Line Gene Mutation Profiles 1.0 null trichostatin A-3868 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null NCIH684 CCLE Cell Line Gene Expression Profiles -1.0 -2.82613 telenzepine-7419 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_LNCaP clone FGC_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null photoreceptor connecting cilium GO Cellular Component Annotations 2015 1.0 null trichostatin A-1535 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE128844_0_v_3_chloroquine_human RummaGEO Drug Perturbation Signatures 1.0 null NCI-N87 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.12026 abnormal occipital bone morphology MPO Gene-Phenotype Associations 1.0 null GSE226249_5_v_6_pirfenidone_human RummaGEO Drug Perturbation Signatures 1.0 null NCI-H2009 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.12932 BRD-K01577807 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.00412 GSE95685_2_v_0_tcpobop_mouse RummaGEO Drug Perturbation Signatures -1.0 null posteroventral (inferior) parietal cortex_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.56517 Renal epithelium TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.326 GTEX-S4UY-0006-SM-3K2A7 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.917074 intracellular non-membrane-bounded organelle COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.098109 Cell projection membrane COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.317 H3K4me1_CD14-positive monocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K58743752 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.05576 Eye degenerative disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.253 Medial amygdalar nucleus, anteroventral part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.20467 GTEX-T6MO-1426-SM-4DM73 GTEx Tissue Sample Gene Expression Profiles 1.0 0.873844 Vesicle coat COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.144 H3K4me1_thymus_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null CTCF_keratinocyte_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-XMD1-0006-SM-4AT4Q GTEx Tissue Sample Gene Expression Profiles -1.0 -2.5469 BRD-K41876347 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.38971 embryonic skeletal system morphogenesis GO Biological Process Annotations 2015 1.0 null H3K4me1_liver_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null CRCGN011_HEPG2_24H:C17 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.1567 GSE103068_0_v_3_volasertib_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me3_osteoblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-Q2AH-1826-SM-2S1Q2 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.865718 BRD-K72255288 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.06835 Lung squamous cell carcinoma_LUSC_TCGA-43-7658-11A-01R-2125-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-SNOS-0006-SM-32PLH GTEx Tissue Sample Gene Expression Profiles -1.0 -1.2748 r7 part of cochlear column Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.46426 ciliopathies GeneRIF Biological Term Annotations 1.0 null Brain Lower Grade Glioma_LGG_TCGA-HT-7611-01A-11R-2403-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BCLAF1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-RU1J-0826-SM-46MUU GTEx Tissue Sample Gene Expression Profiles 1.0 1.89396 CRCGN015_MCF10A_48H:C22 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 5.0933 CLPP_KO_GSE40207_394_mouse_Liver GEO Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 null BRD-K10105458 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.29819 18757322-TableS1 GeneSigDB Published Gene Signatures 1.0 null enzalutamide_homo sapiens_gpl570_gse44905 GEO Signatures of Differentially Expressed Genes for Small Molecules -1.0 null H2AFZ_CD14-positive monocyte_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormality of the periorbital region HPO Gene-Disease Associations 1.0 null Feeding Difficulties In Infancy DisGeNET Gene-Phenotype Associations 1.0 null sensenbrenner syndrome DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null NANOG-21062744-HESCS-HUMAN ChEA Transcription Factor Targets 2022 1.0 null GSE248045,GSE248046_0_v_1_runx1_mouse RummaGEO Gene Perturbation Signatures -1.0 null GSE189609_1_v_2_hax1_human RummaGEO Gene Perturbation Signatures 1.0 null SNAI1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00684006 GSE252857_1_v_0_prednisone_mouse RummaGEO Drug Perturbation Signatures 1.0 null GSE81803,GSE81912_0_v_1_fmr1_mouse RummaGEO Gene Perturbation Signatures 1.0 null Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-HM-A6W2-06A-22R-A33Z-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-U3ZN-0006-SM-3DB7Y GTEx Tissue Sample Gene Expression Profiles -1.0 -1.26341 FUBP3 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.12732 E2F6 ENCODE Transcription Factor Targets 1.0 null dexibuprofen-6712 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null H3K27ac_limb_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null H3K27ac_CD4+ CD25- IL17+ PMA-Ionomcyin stimulated Th17 Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Metaphyseal Widening DisGeNET Gene-Phenotype Associations 1.0 null GSE229914_1_v_3_keap1_human RummaGEO Gene Perturbation Signatures 1.0 null H3K9ac_Peripheral Blood Mononuclear Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null BRD-K54554531 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.56959 MCF10F Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles 1.0 0.742819 mortality/aging MPO Gene-Phenotype Associations 1.0 null BRD-K80895505 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.23428 GSE135030_11_v_10_fludarabine_human RummaGEO Drug Perturbation Signatures 1.0 null eGFP-JUNB_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null bone development disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.180084 GTEX-POYW-1326-SM-48TCG GTEx Tissue Sample Gene Expression Profiles -1.0 -0.884722 IRF8 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 60.1198 GSE164874_5_v_0_prednisolone_human RummaGEO Drug Perturbation Signatures -1.0 null H3K4me1_K562_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null mantle zone of r7Co Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.46181 PMC9980149-media-17.xlsx-Supp_Table_12_Bulk_Seq_CTH_KD_I-SUPPLEMENTARY_TABLE_12_Bulk_RNA-seq_results_of_invasive_fractions_from_GBM43_CTH_knockdwn_vs_GBM43_control_cells_invading_3D_hydrogels_AR Rummagene Transcription Factor Associations 2026 1.0 null all GWASdb SNP-Phenotype Associations 1.0 0.02852 RUNX3 ENCODE Transcription Factor Targets 1.0 null AH-23848-6890 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null HPAF-II Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.979893 mantle zone of r9BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.02462 GSE126777_0_v_1_otub1_mouse RummaGEO Gene Perturbation Signatures -1.0 null GTEX-PLZ4-2726-SM-3P61A GTEx Tissue Sample Gene Expression Profiles 1.0 1.07779 Orbital area, medial part, layer 6a Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.0452 superficial stratum of r7BI Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.5554 Lip disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.395 Prostate adenocarcinoma_PRAD_TCGA-V1-A8MG-01A-11R-A36G-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PTPN1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.40141 BRD-K52932858 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.09677 outer CP in temporal polar cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.902262 BRD-A19037878_trichostatin A_PC3_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null renal insufficiency HPO Gene-Disease Associations 1.0 null GTEX-P4PQ-2626-SM-33HC9 GTEx Tissue Sample Gene Expression Profiles 1.0 1.02348 CTCF_GM13977_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null camera-type eye development GO Biological Process Annotations 2015 1.0 null CRCGN012_HEPG2_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.26444 GPX5 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00521184 Ciliary rootlet COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.5 scriptaid-6919 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null 4945_MED22_P1P2 Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures 1.0 1.1438 BRD-K49328571_dasatinib_HCC515_24_h_1.11_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null MAFK_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null 0173570-0000-7391 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null POLR2A_HGPS cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null NCI-H1693 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.53069 BRD-K47326075 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.39759 BLOC complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.615 HT Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.61812 BRD-K37071891 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.08316 EN COSMIC Cell Line Gene Mutation Profiles 1.0 null TE11_OESOPHAGUS CCLE Cell Line Proteomics 1.0 5.51876 NCI-H1650 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.2732 NRF1 ENCODE Transcription Factor Targets 1.0 null RBBP5 ENCODE Transcription Factor Targets 1.0 null seniorloken GeneRIF Biological Term Annotations 1.0 null PIM1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00681319 PMC9980149-media-17.xlsx-Supp_Table_12_Bulk_Seq_CTH_KD_I-Unnamed_12_AR Rummagene Transcription Factor Associations 2026 1.0 null Thrombosis CTD Gene-Disease Associations 1.0 1.07983 LS-411N COSMIC Cell Line Gene Mutation Profiles 1.0 null SIN3A_Panc1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null AOB, internal plexiform layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.68975 CI-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.11458 Prostate adenocarcinoma_PRAD_TCGA-EJ-8474-01A-11R-2403-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Ciliopathies WikiPathways Pathways 2024 1.0 null GTEX-V955-0426-SM-3GAEL GTEx Tissue Sample Gene Expression Profiles 1.0 1.58239 joint hypermobility HPO Gene-Disease Associations 1.0 null haloperidol-2039 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE193282_3_v_1_cd44_mouse RummaGEO Gene Perturbation Signatures 1.0 null lethality throughout fetal growth and development MPO Gene-Phenotype Associations 1.0 null MYBL2 ENCODE Transcription Factor Targets 1.0 null Adrenocortical carcinoma_ACC_TCGA-OR-A5K3-01A-11R-A29S-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-18-3410-01A-01R-0980-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K77237686 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.33978 GSE60837_0_v_4_bcl9_mouse RummaGEO Gene Perturbation Signatures -1.0 null Brain Lower Grade Glioma_LGG_TCGA-HT-8105-01A-11R-2404-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null MOLP8 CCLE Cell Line Gene CNV Profiles 1.0 1.46719 SP4_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null 19429869-TableS1 GeneSigDB Published Gene Signatures 1.0 null GSE89729_0_v_1_ppard_human RummaGEO Gene Perturbation Signatures -1.0 null EBF1_GM12878_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null cellular macromolecule localization GO Biological Process Annotations 2015 1.0 null SETDB1 ENCODE Transcription Factor Targets 1.0 null GSE211151_1_v_4_progesterone_human RummaGEO Drug Perturbation Signatures 1.0 null protein complex COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 CRCGN011_HEPG2_24H:I10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures -1.0 -2.11235 PRTN3 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00709774 Jeune Thoracic Dystrophy DisGeNET Gene-Disease Associations 1.0 null Assembly of the primary cilium Reactome Pathways 2014 1.0 null Connective tissue disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.878 mainolfactoryepithelium.MOE. BioGPS Mouse Cell Type and Tissue Gene Expression Profiles 1.0 2.09859 USF1_SK-N-SH_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null zona incerta, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.19381 BRD-K28247259 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.10887 cerebellar cortex_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 3.12495 parathyroid gland HPA Tissue Protein Expression Profiles -1.0 -0.772898 CEBPB_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE193993_1_v_6_sstr2_human RummaGEO Gene Perturbation Signatures 1.0 null Lip epithelium TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.78 BRD-K31187110 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.62807 NCI-H1092 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.45717 Artery - Coronary GTEx Tissue Gene Expression Profiles 2023 1.0 1.57154 GSE182680,GSE182683_7_v_13_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null BB-93-VT73_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.224655 GSE144231_4_v_1_cxcr2_mouse RummaGEO Gene Perturbation Signatures -1.0 null oleandomycin-5676 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null HMX1_Deficiency_GDS4810_324_mouse_Retinas of C57BL/6J GEO Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 null USF1_C2C12_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CHD7_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Brain Lower Grade Glioma_LGG_TCGA-FN-7833-01A-11R-2090-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Hydrocephalus DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.602 CTCF_GM20000_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null PMC7397849-supp_gad.338681.120_Supplemental_Table_S3.xlsx-S3L_Peaks_2SA-YAP1_TEAD4-Unnamed_14_TEAD4 Rummagene Transcription Factor Associations 2026 1.0 null GSE198434_1_v_0_aspirin_human RummaGEO Drug Perturbation Signatures -1.0 null ovary GTEx Tissue Gene Expression Profiles 1.0 1.07278 fallopiantube_8d HPA Tissue Sample Gene Expression Profiles 1.0 0.948806 Sperm midpiece COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.572 RAB8B LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00717381 NCIH1876 CCLE Cell Line Gene Expression Profiles 1.0 1.77314 H3K4me3_bronchial epithelial cell_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null GTEX-R3RS-0005-SM-3GAEH GTEx Tissue Sample Gene Expression Profiles -1.0 -1.44418 ZSCAN21 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 16.6515 SIN3A_HepG2_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_GM13976_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_H1 BMP4 Derived Mesendoderm Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Axonemal outer doublet COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.86 red nucleus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.18767 Retinitis pigmentosa DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 5.0 Lung squamous cell carcinoma_LUSC_TCGA-56-7579-11A-01R-2045-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PMC7181746-41467_2020_15886_MOESM8_ESM.xlsx-Patient_10_CCF-Affected_Genes_PITX1 Rummagene Transcription Factor Associations 2026 1.0 null Proteinuria DisGeNET Gene-Phenotype Associations 1.0 null GSE231524,GSE231526_0_v_1_dusp6_human RummaGEO Gene Perturbation Signatures 1.0 null PMC12619835-41467_2025_66007_MOESM8_ESM.xlsx-Classical_KLF5_peaks-Nearest_Ensembl_1_KLF5 Rummagene Transcription Factor Associations 2026 1.0 null GK3 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.3476 IMR-5 COSMIC Cell Line Gene Mutation Profiles 1.0 null vorinostat-1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_Breast Myoepithelial Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null abnormal endochondral bone ossification MPO Gene-Phenotype Associations 1.0 null BRD-K72580121 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.27891 GTEX-R55C-1926-SM-2TF4K GTEx Tissue Sample Gene Expression Profiles 1.0 0.989284 GTEX-XYKS-2426-SM-4AT43 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.836655 BRD-K74138110 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.34021 CE-95-YX02_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.304997 FOSL2_A549_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K16641781 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.06052 Mitochondrial complex III deficiency DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.285 Narrow Thorax DisGeNET Gene-Phenotype Associations 1.0 null primary visual cortex (striate cortex, area V1/17)_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.01255 GSE254770_0_v_1_sin3b_mouse RummaGEO Gene Perturbation Signatures -1.0 null CRCGN013_HEPG2_24H:K08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.39234 GTEX-WHPG-2226-SM-3NMBO GTEx Tissue Sample Gene Expression Profiles -1.0 -0.871714 reduced bone mineral density HPO Gene-Disease Associations 1.0 null CRCGN016_MCF10A.WT.HP_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 6.19975 CRCGN015_MCF10A.TP53.M_24H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 5.7539 r10 part of the inferior olive Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.65639 CTCF_K562_hg19_6 ENCODE Transcription Factor Binding Site Profiles 1.0 null striatum_13 yrs_F_12831 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.68158 polycystic kidney disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.650113 BRD-K33986892 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.33152 BRD-K83190598 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.2867 bone marrow HPA Tissue Protein Expression Profiles -1.0 -0.772898 MYC ENCODE Transcription Factor Targets 1.0 null eGFP-GATA2_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-P3-A5QE-01A-11R-A28V-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null ELK1::HOXB13 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 18.0725 H3K79me2_fibroblast of lung_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null mantle zone of r6BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.01203 trichostatin A-5231 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null NCI-H1355 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.26166 Parapyramidal nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.99108 BRD-K03618428_PP-110_HT29_24.0_h_22.2_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null digestive/alimentary phenotype MPO Gene-Phenotype Associations 1.0 null IZ in midlateral temporal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.927476 hel HPA Cell Line Gene Expression Profiles -1.0 -1.19452 postaxial foot polydactyly HPO Gene-Disease Associations 1.0 null GSE164757,GSE164759_4_v_2_trametinib_mouse RummaGEO Drug Perturbation Signatures 1.0 null GTEX-WZTO-3026-SM-3NMA2 GTEx Tissue Sample Gene Expression Profiles 1.0 1.36161 SIN3A_PFSK-1_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null PLEKHG5 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.07949 skeletal system TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.053484 CRCGN010_HEPG2_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 4.06033 AOB, outer plexiform layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.51097 POU4F3 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 28.7023 GTEX-WXYG-2526-SM-3NB3F GTEx Tissue Sample Gene Expression Profiles -1.0 -1.04772 primary visual cortex (striate cortex, area V1/17)_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -0.929054 BRD-K44483161 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.04027 4-Benzylpyridine DeepCoverMOA Drug Mechanisms of Action -1.0 -0.43 H3K27ac_B cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GSE175787_5_v_9_rhoc_human RummaGEO Gene Perturbation Signatures 1.0 null STK33 MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations 1.0 null GSE144231_2_v_7_cxcr2_mouse RummaGEO Gene Perturbation Signatures -1.0 null mesoridazine-7017 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null KMS-34 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.16033 Microtubule cytoskeleton COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.266 GTEX-WFJO-0005-SM-3GIKY GTEx Tissue Sample Gene Expression Profiles -1.0 -1.093 MITF-21258399-MELANOMA-HUMAN ChEA Transcription Factor Targets 2022 1.0 null Fetal Death CTD Gene-Disease Associations 1.0 1.37648 BRD-K78612514 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.62471 TAF1 ENCODE Transcription Factor Targets 1.0 null flufenamic acid-5478 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null IGFBP4 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00487346 RAD21_SK-N-SH_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null TBP_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null smooth muscle HPA Tissue Protein Expression Profiles -1.0 -0.772898 NCI-H2198 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.08844 trichostatin A-2639 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K52911425_GDC-0941_BT20_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null IGF1_OE_GDS3484_540_human_MCF-7 GEO Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 null Ovary Roadmap Epigenomics Cell and Tissue Gene Expression Profiles 1.0 0.895497 KB-78-BE93_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.2345 overexpression GeneRIF Biological Term Annotations 1.0 null Nucleus COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 1.0 2.074 POLR2A ENCODE Transcription Factor Targets 1.0 null TBL1XR1 ENCODE Transcription Factor Targets 1.0 null CB-16-SY72_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.314706 ZEB1_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null lethality during fetal growth through weaning MPO Gene-Phenotype Associations 1.0 null GSE214931_1_v_0_temozolomide_human RummaGEO Drug Perturbation Signatures -1.0 null EP300_GM12878_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormal hard palate morphology MPO Gene-Phenotype Associations 1.0 null Adrenocortical carcinoma_ACC_TCGA-OR-A5JJ-01A-11R-A29S-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PMC11502753-41467_2024_53330_MOESM11_ESM.xlsx-Sheet1-SMAD3_target_genes_A549_SMAD3 Rummagene Transcription Factor Associations 2026 1.0 null Pyogenic Granuloma DisGeNET Gene-Disease Associations 1.0 null BRD-K97452545 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.32387 GSE120413,GSE120447_0_v_1_bap1_mouse RummaGEO Gene Perturbation Signatures -1.0 null ZNF524 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 25.008 CRCGN017_MCF10A.WT.HP_24H:G11 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.62415 Ventricular septal defect DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.043 MCF7_Belinostat_10µM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.00731978 NANOG ChEA Transcription Factor Targets 1.0 null inferolateral temporal cortex (area TEv, area 20)_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 2.35489 tolmetin-3347 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null abnormally lax or hyperextensible skin HPO Gene-Disease Associations 1.0 null protein-containing complex organization GO Biological Process Annotations 2025 1.0 null H3K27ac_K562_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null FF-28-ES17_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.239484 K562_Avagacestat_10nM_24h Sci-Plex Drug Perturbation Signatures -1.0 -0.0142229 GSE207582_2_v_1_testosterone_mouse RummaGEO Drug Perturbation Signatures 1.0 null GSE217526_0_v_1_parthenolide_human RummaGEO Drug Perturbation Signatures -1.0 null motile cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.243879 GSE169152_3_v_7_ibrutinib_human RummaGEO Drug Perturbation Signatures 1.0 null SIN3A_MEL cell line_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE85995_1_v_0_gata3_human RummaGEO Gene Perturbation Signatures 1.0 null Hot Flashes CTD Gene-Disease Associations 1.0 1.142 abnormality of the oral cavity HPO Gene-Disease Associations 1.0 null CTCF ENCODE Transcription Factor Targets 1.0 null GTEX-TML8-0005-SM-32QPA GTEx Tissue Sample Gene Expression Profiles -1.0 -1.03701 H3K79me2_mammary epithelial cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_C2C12_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null THP-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null GSE244072_10_v_8_tfeb_mouse RummaGEO Gene Perturbation Signatures -1.0 null CE-96-GH46_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.256589 BRD-A18328003_GDC-0980_HA1E_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null retina TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.100082 JIMT-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -2.5523 PML_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_fibroblast of lung_hg19_5 ENCODE Histone Modification Site Profiles 1.0 null PMC11242342-jcav15p4513s1.pdf-32-ZNF75A_ZNF75A Rummagene Transcription Factor Associations 2026 1.0 null primary somatosensory cortex (area S1, areas 3,1,2)_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 2.26685 H3K27me3_erythroblast_mm9_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null FOS_MCF 10A_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me1_Adipose Derived Mesenchymal Stem Cell Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null H3K4me3_HepG2_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null JUN ENCODE Transcription Factor Targets 1.0 null lateral group of nuclei, left, ventral division Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -0.906689 H3K27ac_fibroblast of dermis_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null EVX1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 13.7037 MAX_ECC-1_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_H1 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null lidoflazine-6278 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null DB CCLE Cell Line Gene Expression Profiles 1.0 1.49719 R-atenolol-4841 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K80196706 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.35367 smooth philtrum HPO Gene-Disease Associations 1.0 null autosomal GeneRIF Biological Term Annotations 1.0 null Disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.018 dorsal motor nucleus of the vagus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.09102 H3K9ac_Colon Smooth Muscle Roadmap Epigenomics Histone Modification Site Profiles 1.0 null hilus of the DG Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.23185 vorinostat-1058 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Lung transplant rejection_Lung Tissue_GSE2018 GEO Signatures of Differentially Expressed Genes for Diseases -1.0 -1.94305 CTCF_medulloblastoma_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null primary visual cortex (striate cortex, area V1/17)_2 yrs_F_12979 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.61844 GSE60837_0_v_3_bcl9_mouse RummaGEO Gene Perturbation Signatures -1.0 null GSE169152_3_v_1_ibrutinib_human RummaGEO Drug Perturbation Signatures 1.0 null superficial stratum of DG Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.28764 H3K27ac_mammary epithelial cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null ELF1_MCF-7_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-43-8116-01A-11R-2247-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CRCGN017_MCF10A.WT.HP_24H:I10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.5253 abnormality of the hair HPO Gene-Disease Associations 1.0 null cellular component assembly involved in morphogenesis GO Biological Process Annotations 2015 1.0 null GTEX-UPJH-0526-SM-4IHK8 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.910508 CTCF_GM12866_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-R53T-0005-SM-3GADK GTEx Tissue Sample Gene Expression Profiles -1.0 -0.998427 BRD-K02087489 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.44507 decitabine-920 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null LOX-IMVI Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.921048 protein localization to membrane GO Biological Process Annotations 2025 1.0 null HUO9 COSMIC Cell Line Gene Mutation Profiles 1.0 null Brain Lower Grade Glioma_LGG_TCGA-HT-7469-01A-11R-2256-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Liver hepatocellular carcinoma_LIHC_TCGA-DD-A1EI-01A-11R-A131-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null HUG1N CCLE Cell Line Gene Expression Profiles -1.0 -1.52879 TIRAP CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.00388 TP53INP2_OE_GDS5054_545_mouse_skeletal muscle GEO Signatures of Differentially Expressed Genes for Gene Perturbations 1.0 null intracellular membrane-bounded organelle LOCATE Predicted Protein Localization Annotations 1.0 null CTCF_H1-hESC_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null NRF1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE93309_2_v_4_prmt1_mouse RummaGEO Gene Perturbation Signatures 1.0 null H3K4me2_HepG2_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Prostate Carcinoma DisGeNET Gene-Disease Associations 1.0 null Abnormality Of The Skeletal System DisGeNET Gene-Disease Associations 1.0 null RD-39-ZE95_0.01uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.242856 acenocoumarol-1394 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Nephronophthisis 13 ClinVar Gene-Phenotype Associations 1.0 null 5253409-961 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Primary Ciliary Dyskinesia DisGeNET Gene-Disease Associations 1.0 null seckel syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 1.37599 CDK10_knockdown_116_GSE27869 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 1.94204 GTEX-TMMY-0726-SM-33HBE GTEx Tissue Sample Gene Expression Profiles 1.0 1.04427 Lung squamous cell carcinoma_LUSC_TCGA-56-7580-11A-01R-2045-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null 496100463_FWM_possible Alzheimer's disease_no TBI_100+_F Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.30903 GTEX-XUZC-0005-SM-4BOQ8 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.37285 GSE183041_1_v_0_cisplatin_human RummaGEO Drug Perturbation Signatures 1.0 null STAT5A ENCODE Transcription Factor Targets 1.0 null POLR2AphosphoS5_Panc1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null central glial substance Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 3.26578 CHD1 ChEA Transcription Factor Targets 1.0 null Spermatogenic failure DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.028 BRD-K52047843 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.28921 STAT1 ENCODE Transcription Factor Targets 1.0 null BRD-K70193997 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.15323 AOB, granular layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.98908 H3K27ac_A549_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K68174511_-666_MCF7_6.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CRCGN015_HEPG2_48H:C23 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.74535 orbital frontal cortex_37 yrs_M_12303 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.929964 H3K27me3_mononuclear cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null PMC6904118-NIHMS1544763-supplement-5.xlsx-MYB_Individual-MYB_sgRNA-10_MYB Rummagene Transcription Factor Associations 2026 1.0 null Pancreatic adenocarcinoma_PAAD_TCGA-HV-A7OL-01A-11R-A33R-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null H3K4me3_GM12875_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null MYC_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Dicyclohexylamine DeepCoverMOA Drug Mechanisms of Action 1.0 0.29 Arcuate hypothalamic nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.37966 cerebellum BioGPS Mouse Cell Type and Tissue Gene Expression Profiles -1.0 -0.865652 Full Cheeks DisGeNET Gene-Phenotype Associations 1.0 null HNF4A ChEA Transcription Factor Targets 1.0 null AU565 CCLE Cell Line Gene Expression Profiles -1.0 -2.10098 GSE157594_0_v_7_nicotinamide_mouse RummaGEO Drug Perturbation Signatures -1.0 null Choroid disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.119 Brain Lower Grade Glioma_LGG_TCGA-TM-A84H-01A-11R-A36H-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null FOXM1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_Neurosphere Cultured Cells Cortex Derived Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Malignant Neoplasm DisGeNET Gene-Disease Associations 1.0 null 18081427-TableS8 GeneSigDB Published Gene Signatures 1.0 null Dentate gyrus, molecular layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.18973 CTCF_fibroblast of gingiva_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K67868012_PI-103_BT20_24_h_1.11_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me2_CH12.LX_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K21990111 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.39701 Cone dystrophy DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.578 H3K4me2_B cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null CTCF_fibroblast of pulmonary artery_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null primaquine-4845 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null torasemide-5476 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null KIF21A LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00738471 abnormality of the eye HPO Gene-Disease Associations 1.0 null SNU81 DepMap CRISPR Gene Dependency 1.0 11.3907 GTEX-R55C-1726-SM-3GADJ GTEx Tissue Sample Gene Expression Profiles -1.0 -0.915055 Nephronophthisis 12 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.596 GTEX-X4XY-0006-SM-46MV2 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.915704 posteroventral (inferior) parietal cortex_36 yrs_M_12302 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.878237 Ciliopathy DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 3.144 H3K4me3_H1 Derived Neuronal Progenitor Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null abnormality of long bone morphology HPO Gene-Disease Associations 1.0 null Renal Insufficiency CTD Gene-Disease Associations 1.0 1.1461 Prostate adenocarcinoma_PRAD_TCGA-G9-6338-01A-12R-1965-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null inferolateral temporal cortex (area TEv, area 20)_37 yrs_M_12303 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.26542 duplication of phalanx of hand HPO Gene-Disease Associations 1.0 null Breast Neoplasms CTD Gene-Disease Associations 1.0 1.50095 SP1_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null deferoxamine-573 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CRCGN008_HEPG2_24H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.68665 BRD-K12502280_TG-101348_HS578T_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null hsa-miR-2467-3p TargetScan Predicted Nonconserved microRNA Targets 1.0 1.99187 Orbital area, medial part, layer 5 Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.22376 Cranioectodermal dysplasia 4 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.832 CRCGN017_MCF10A.WT.HP_24H:H10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.4871 CREBL2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.03375 BRD-K11554989 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.02942 BRD-K38189984 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.39253 HEL GDSC Cell Line Gene Expression Profiles -1.0 -2.07611 short stature HPO Gene-Disease Associations 1.0 null GTEX-QEL4-0426-SM-3GACZ GTEx Tissue Sample Gene Expression Profiles 1.0 1.38317 HCC1493 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.13029 HMX2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.37465 nabumetone-5428 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null EGR1_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null sirolimus_mus musculus_gpl1261_gse21755 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K64890080_BI 2536_HA1E_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K9ac_CH12.LX_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null Intraciliary transport particle B COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 3.328 NCIH2405 CCLE Cell Line Gene CNV Profiles -1.0 -1.40362 ectopic digits MPO Gene-Phenotype Associations 1.0 null Connective tissue disorder ClinVar Gene-Phenotype Associations 2025 1.0 null FLI1::FOXI1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 26.8729 IZ in caudal perirhinal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.85093 CTCF_GM12867_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Global Developmental Delay DisGeNET Gene-Disease Associations 1.0 null NCIH889 CCLE Cell Line Gene CNV Profiles 1.0 1.84286 CACO-2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.25961 GTEX-SIU7-0006-SM-2XCE6 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.66794 SESTD1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.17234 BRD-K47391428 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.46413 leflunomide-5884 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null JAK1_druginhibition_166_GSE38335 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 0.865223 abnormality of the metaphyses HPO Gene-Disease Associations 1.0 null cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 1.16081 CREB1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null recurrent respiratory infections HPO Gene-Disease Associations 1.0 null BRD-K12502280_TG-101348_HT29_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K15563106_-666_PC3_24.0_h_177.6_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE114883_0_v_4_romidepsin_human RummaGEO Drug Perturbation Signatures 1.0 null CTCF_GM12873_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null PMC4387713-supp_gad.255984.114_Table_S4.xlsx-S4B-Up_Nanog_KD-Unnamed_1_AR Rummagene Transcription Factor Associations 2026 1.0 null POLR2AphosphoS2_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K28021686 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.42462 preoptic region, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.36435 mefenamic acid-5534 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null SARS-BatSRBD_0Hour_23935999_GSE47961 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 2.94921 abnormal parietal bone morphology MPO Gene-Phenotype Associations 1.0 null chlorpromazine-1822 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null NCI-H847 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.54825 Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-C5-A7CG-01A-11R-A32P-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null intracellular organelle COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.248216 SPI1 ENCODE Transcription Factor Targets 1.0 null orbital frontal cortex_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -0.829671 intracellular organelle LOCATE Predicted Protein Localization Annotations 1.0 null biological regulation GO Biological Process Annotations 2015 1.0 null quinostatin-973 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me1_Panc1_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null E2F6_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE95688_7_v_5_glutathione_mouse RummaGEO Drug Perturbation Signatures 1.0 null posterior hypothalamic area, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.92263 signal recognition particle, endoplasmic reticulum targeting COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.442896 GSE199644_3_v_2_palmitic acid_mouse RummaGEO Drug Perturbation Signatures 1.0 null DB-54-GQ68_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.356477 inferolateral temporal cortex (area TEv, area 20)_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.10095 KDM5B ENCODE Transcription Factor Targets 1.0 null monorden-1644 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null ELK1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BEN cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.556 Ciliary shaft COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.554 BRD-K95435023_PHA-665752_HT29_24_h_0.04_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Proboscis TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.653 GSE120781,GSE174528_4_v_1_ctcf_human RummaGEO Gene Perturbation Signatures -1.0 null caroli GeneRIF Biological Term Annotations 1.0 null AMO-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.02922 BRD-K83090041 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.53205 GTEX-QLQW-0005-SM-2S1RA GTEx Tissue Sample Gene Expression Profiles -1.0 -1.36894 Micronuclei, Chromosome-Defective CTD Gene-Disease Associations 1.0 1.57522 dropropizine-5531 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GTEX-UJHI-0426-SM-3DB8Y GTEx Tissue Sample Gene Expression Profiles -1.0 -0.85129 GTEX-SN8G-0006-SM-32PLD GTEx Tissue Sample Gene Expression Profiles -1.0 -1.27252 GTEX-O5YT-0007-SM-32PK7 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.16378 Lung adenocarcinoma_LUAD_TCGA-44-7670-01A-11R-2066-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null ventral isthmic part of dorsal raphe nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.22229 abnormality of the cheeks HPO Gene-Disease Associations 1.0 null motile cilium GO Cellular Component Annotations 2015 1.0 null BRD-K25877330 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.13041 valproic acid-2669 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Peripheral Nervous System Diseases CTD Gene-Disease Associations 1.0 1.02225 Labellum TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.202 CTCF_fibroblast of lung_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K03351377 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.15267 cleft palate MGI Mouse Phenotype Associations 2023 1.0 null azotemia HPO Gene-Disease Associations 1.0 null POLR2A_GM12891_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE147283_1_v_3_arid1a_human RummaGEO Gene Perturbation Signatures -1.0 null trichostatin A-1471 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null axoneme COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 naproxen-1869 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null cone-shaped epiphysis HPO Gene-Disease Associations 1.0 null VZ in dorsolateral prefrontal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.39402 BRD-K68149575 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.40058 Protozoan form TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.416 acetylsalicylsalicylic acid-1377 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K73442516 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.38574 Outer dynein arm COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.964 abnormality of lower limb joint HPO Gene-Disease Associations 1.0 null preweaning lethality MPO Gene-Phenotype Associations 1.0 null 19286929-SuppTable2q GeneSigDB Published Gene Signatures 1.0 null IZ in dorsolateral prefrontal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.03152 H3K4me3_A549_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-UJMC-1926-SM-3GADS GTEx Tissue Sample Gene Expression Profiles 1.0 1.2624 PMC10169359-13058_2023_1653_MOESM1_ESM.xlsx-Table_S9-Table_S9_Genes_differentially_expressed_between_TP53_mutant_and_wild-type_pBCs_TP53 Rummagene Transcription Factor Associations 2026 1.0 null STAT3_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_CD4+ CD25+ CD127- Treg Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null r7 part of the dorsal cochlear nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.22626 GTEX-OXRP-0326-SM-33HBJ GTEx Tissue Sample Gene Expression Profiles 1.0 2.37341 H3K27ac_Brain Cingulate Gyrus Roadmap Epigenomics Histone Modification Site Profiles 1.0 null USF1_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-SE5C-0006-SM-4BRW5 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.8206 SJSA1 CCLE Cell Line Gene CNV Profiles -1.0 -1.73955 PMC6904118-NIHMS1544763-supplement-5.xlsx-MYB_Individual-MYB_sgRNA-1_MYB Rummagene Transcription Factor Associations 2026 1.0 null CRCGN015_MCF10A.TP53.M_24H:G18 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.1531 SNB75 BioGPS Cell Line Gene Expression Profiles -1.0 -1.17664 monogenic disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null BRD-K12184916_NVP-BEZ235_HA1E_24_h_0.37_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null temporal pole, right, superior aspect Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -0.910805 gracile nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -2.35438 EE-03-SG02_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.323172 H3K4me3_cortical plate_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null non-motile cilium COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 4.0 CRCGN015_MCF10A.WT.HP_24H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 6.62619 POLR2A_endothelial cell of umbilical vein_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null external granular (germinal) layer of lower rhombic lip Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.85336 pimethixene-7468 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Prostate adenocarcinoma_PRAD_TCGA-EJ-A46E-01A-31R-A250-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K29238078 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.2274 retinal disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.499231 CRCGN011_HEPG2_24H:M13 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 4.7662 HEK 293T BioGPS Cell Line Gene Expression Profiles 1.0 1.53844 DUXA JASPAR Predicted Human Transcription Factor Targets 2025 1.0 36.6337 CP67-MEL COSMIC Cell Line Gene Mutation Profiles 1.0 null BRD-K47947160 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.27976 TCFAP2C-20176728-TROPHOBLAST-STEM-CELLS-MOUSE ChEA Transcription Factor Targets 2022 1.0 null SP1_A549_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K32451879 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.18739 GTEX-Q2AH-0005-SM-33HBR GTEx Tissue Sample Gene Expression Profiles -1.0 -1.70472 PUS3 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.09939 layer 5 of PrS Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.28209 SW 837 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.893165 BRD-K69840642_HDAC6 inhibitor ISOX_SKM1_6.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null NCI-H510A Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.85319 GTEX-X8HC-0726-SM-46MWG GTEx Tissue Sample Gene Expression Profiles 1.0 1.77926 PMC6904118-NIHMS1544763-supplement-5.xlsx-MYB_Individual-MYB_sgRNA-9_MYB Rummagene Transcription Factor Associations 2026 1.0 null MAX_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE223008_7_v_8_calhm6_mouse RummaGEO Gene Perturbation Signatures -1.0 null Taurodontism DisGeNET Gene-Disease Associations 1.0 null IGF2BP2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.01345 m1B part of the periaqueductal gray Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.21994 BATF ENCODE Transcription Factor Targets 1.0 null Central nervous system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.577 KDM5B_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null NFYC JASPAR Predicted Human Transcription Factor Targets 2025 1.0 18.1276 abnormality of the phalanges of the toes HPO Gene-Disease Associations 1.0 null TC-71 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.28708 GSE192860_0_v_1_trifluoperazine_human RummaGEO Drug Perturbation Signatures 1.0 null trichostatin A-7236 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Kidney Failure DisGeNET Gene-Disease Associations 1.0 null GSE234340_9_v_2_muc2_mouse RummaGEO Gene Perturbation Signatures -1.0 null mode of inheritance HPO Gene-Disease Associations 1.0 null Chondroclast TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.64 GSE100464,GSE100465_0_v_3_atrx_mouse RummaGEO Gene Perturbation Signatures 1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-BP-4352-01A-01R-1289-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CRCGN008_HEPG2_24H:E09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.2675 GSE217156_1_v_3_trpc1_mouse RummaGEO Gene Perturbation Signatures -1.0 null GTEX-OHPN-0005-SM-2YUML GTEx Tissue Sample Gene Expression Profiles -1.0 -1.25494 POLR2AphosphoS5_U-87 MG_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null insufficiency GeneRIF Biological Term Annotations 1.0 null postaxial polydactyly HPO Gene-Disease Associations 1.0 null GSE171572_1_v_2_tp53_human RummaGEO Gene Perturbation Signatures -1.0 null cell part COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 BRD-K33891642 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.23169 RAD21_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null UBC Pathway Commons Protein-Protein Interactions 1.0 null BRD-K38574421 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.53871 seckel syndrome DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null GSE225982_2_v_0_ezetimibe_human RummaGEO Drug Perturbation Signatures 1.0 null NCIH2052_PLEURA CCLE Cell Line Proteomics 1.0 3.15878 outer portion of lateral ganglionic eminence Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.1571 SINHCAF CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.50293 SACM1L CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.12767 GTEX-XXEK-1326-SM-4BRV1 GTEx Tissue Sample Gene Expression Profiles 1.0 1.37331 GSE217071_3_v_0_ythdf2_mouse RummaGEO Gene Perturbation Signatures -1.0 null H3K4me3_SK-N-MC_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-CJ-4875-01A-01R-1305-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GSE180200,GSE180201_15_v_6_qpctl_mouse RummaGEO Gene Perturbation Signatures 1.0 null CTCF_GM12874_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null SCC-4 GDSC Cell Line Gene Expression Profiles -1.0 -3.53239 CRCGN015_HEPG2_48H:H19 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.74672 AA-22-UI44_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.205496 H3K9ac_HepG2_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GSE148066,GSE157787_11_v_7_n4bp1_mouse RummaGEO Gene Perturbation Signatures -1.0 null mediodorsal nucleus of thalamus_4 yrs_M_12298 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -0.844781 reproductive organ cancer DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.042352 vitamin c_homo sapiens_gpl570_gds3635 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null short ribs MGI Mouse Phenotype Associations 2023 1.0 null 18757322-TableS3 GeneSigDB Published Gene Signatures 1.0 null Acrofacial dysostosis DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.964 cytoplasm GO Cellular Component Annotations 2015 1.0 null BRD-K73039647 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.19844 Skin Cutaneous Melanoma_SKCM_TCGA-EB-A24C-01A-11R-A18T-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K4me3_BJ_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null system process GO Biological Process Annotations 2015 1.0 null H3K4me3_K562_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BATF_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Pheochromocytoma and Paraganglioma_PCPG_TCGA-SR-A6MV-01A-11R-A35L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K34519313 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.07552 STAT3_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_GM12878_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null mRNA_NIPBL_20720539 ESCAPE Omics Signatures of Genes and Proteins for Stem Cells -1.0 null KARPAS-422 GDSC Cell Line Gene Expression Profiles 1.0 1.57394 protein-containing complex assembly GO Biological Process Annotations 2025 1.0 null E2F1-21310950-MCF7-HUMAN ChEA Transcription Factor Binding Site Profiles 1.0 null A-Netherlands-602-2009(H1N1)_24Hour_None_GSE40844 GEO Signatures of Differentially Expressed Genes for Viral Infections -1.0 -1.73886 CAKI-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.08101 HDLM2 CCLE Cell Line Gene CNV Profiles -1.0 -1.67553 HCC1569 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.881483 deferoxamine-485 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null H3K4me3_fibroblast of foreskin _hg19_2 ENCODE Histone Modification Site Profiles 1.0 null BRD-K67408816 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.08776 FOXA1 ENCODE Transcription Factor Targets 1.0 null ZMIZ1 ENCODE Transcription Factor Targets 1.0 null BRD-A26002865_V4877_PC3_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Tetratricopeptide-like helical domain InterPro Predicted Protein Domain Annotations 1.0 null BRD-K73462370 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.07248 Heart disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.311 AC-36-TL21_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.310748 superficial stratum of DgSe Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.20909 r3 part of trigeminal sensory column Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.1878 H2AFZ ENCODE Transcription Factor Targets 1.0 null BRD-K59317601_INK-128_HA1E_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null PMC7181646-41523_2020_157_MOESM4_ESM.xlsx-RNAseq_KD_vs_Control_DEG-Gene_ID_AR Rummagene Transcription Factor Associations 2026 1.0 null limb TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.312232 butamben-6266 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CTCF_fibroblast of lung_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-96-A4JL-01A-11R-A24Z-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null lateral ganglionic eminence_9 pcw_M_12833 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.943826 H3K4me3_Rectal Smooth Muscle Roadmap Epigenomics Histone Modification Site Profiles 1.0 null BD-49-MD69_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.297195 CRCGN017_MCF10A.WT.HP_24H:E13 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.0178 PAX5_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null intracellular part GO Cellular Component Annotations 2015 1.0 null MAP4 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00689223 BD-11-DV28_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.525366 trichostatin A-873 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null USF1_myocyte_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null TBP_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CHD1 ENCODE Transcription Factor Targets 1.0 null CRCGN015_MCF10A_48H:H22 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.25253 all HPO Gene-Disease Associations 1.0 null Joint Hyperflexibility DisGeNET Gene-Phenotype Associations 1.0 null Perihypoglossal nuclei Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.04292 CTCF_epithelial cell of proximal tubule_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null protruding ear HPO Gene-Disease Associations 1.0 null GSE205550,GSE205552_2_v_3_doxorubicin_mouse RummaGEO Drug Perturbation Signatures -1.0 null GTEX-NPJ8-0011-R8a-SM-2HMLG GTEx Tissue Sample Gene Expression Profiles 1.0 0.833539 peripheral portion of GPi Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.993504 SW 900 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.874342 GSE158834_11_v_8_palmitic acid_human RummaGEO Drug Perturbation Signatures -1.0 null Neural tube defect DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.375 GSE182181_1_v_0_ricolinostat_human RummaGEO Drug Perturbation Signatures 1.0 null Ehlers-Danlos syndrome kyphoscoliotic type 1 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.263 MOLP-8 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.67059 G111 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.20619 H3K9ac_H1 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null HPRT1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00411222 Genetic disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.184 inferolateral temporal cortex (area TEv, area 20)_13 yrs_F_12831 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.09859 cellular_component COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 skeletalmuscle_c HPA Tissue Sample Gene Expression Profiles -1.0 -0.825045 CRCGN017_MCF10A.WT.HP_24H:C01 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.06309 MCF7 BioGPS Cell Line Gene Expression Profiles -1.0 -0.836298 BRD-K11987248 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.12861 Thymus BioGPS Human Cell Type and Tissue Gene Expression Profiles -1.0 -0.914488 POLR2A_HepG2_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-WCDI-0005-SM-3NB2M GTEx Tissue Sample Gene Expression Profiles -1.0 -1.23022 superficial stratum of r10BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.65956 H3K79me2_A549_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-63-A5MW-01A-11R-A26W-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null zoxazolamine-6290 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null NCI-N417 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.845155 Abnormality Of The Clavicle DisGeNET Gene-Disease Associations 1.0 null H3K4me1_G1E-ER4_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null Ataxia DisGeNET Gene-Disease Associations 1.0 null Sperm flagellum TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.728 H3K4me3_A549_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null RELL1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.0054881 BRD-A08003242_RHODOMYRTOXIN B_HA1E_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null KAT2B ENCODE Transcription Factor Targets 1.0 null ME-31-RM40_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.231041 CEBPB-20176806-THIOMACROPHAGE-MOUSE ChEA Transcription Factor Binding Site Profiles 1.0 null H3K4me3_fibroblast of gingiva_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null mRNA_ZFP42_19618472 ESCAPE Omics Signatures of Genes and Proteins for Stem Cells 1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-EB-A41A-01A-11R-A24X-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null HCC70 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -2.03134 CTCF_astrocyte of the spinal cord_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K54023716 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.04071 MK-886-601 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null 496100322_FWM_possible Alzheimer's disease_no TBI_100+_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.3292 Caroli Disease DisGeNET Gene-Disease Associations 1.0 null hmc1 HPA Cell Line Gene Expression Profiles -1.0 -0.991829 superficial stratum of r8BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -2.1657 hippocampus (hippocampal formation)_19 pcw_F_12885 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.17356 H3K27ac_Duodenum Smooth Muscle Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GSE160001,GSE160670_0_v_2_lapatinib_human RummaGEO Drug Perturbation Signatures 1.0 null prostate carcinoma DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.251015 GSE156923_2_v_3_rbmx_human RummaGEO Gene Perturbation Signatures -1.0 null decreased palatine bone horizontal plate size MGI Mouse Phenotype Associations 2023 1.0 null GTEX-SJXC-0326-SM-2XCFI GTEx Tissue Sample Gene Expression Profiles 1.0 0.862539 Cranioectodermal dysplasia 1 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.803 cerebellar cortex_8 yrs_M_12981 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.01255 Fetalbrain BioGPS Human Cell Type and Tissue Gene Expression Profiles 1.0 1.13409 ventrolateral prefrontal cortex_16 pcw_M_12287 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.35267 H3K4me3_NT2-D1_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-OIZI-0726-SM-2XCEI GTEx Tissue Sample Gene Expression Profiles 1.0 1.89309 GTEX-TKQ2-0006-SM-33HBH GTEx Tissue Sample Gene Expression Profiles -1.0 -1.09804 Small_Intestine Roadmap Epigenomics Cell and Tissue Gene Expression Profiles -1.0 -1.15313 YY1_GM12891_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN013_HEPG2_24H:N13 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.44069 MCF7_Quisinostat_10µM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.00521856 H3K4me3_HeLa-S3_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H3K27ac_keratinocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null paraventricular nucleus of the hypothalamus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.35413 H3K4me3_SK-N-SH_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null r7 part of the posteroventral cochlear nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -2.28468 SCC25 CCLE Cell Line Gene CNV Profiles -1.0 -1.33182 CTCF_bronchial epithelial cell_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null FOXM1_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-RM2N-0526-SM-2TF4N GTEx Tissue Sample Gene Expression Profiles 1.0 0.85195 JD-81-YX02_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.340602 MAX_MEL cell line_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Brain Lower Grade Glioma_LGG_TCGA-DU-8158-01A-11R-2256-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null aplasia/hypoplasia of the extremities HPO Gene-Disease Associations 1.0 null inferolateral temporal cortex (area TEv, area 20)_8 yrs_M_12841 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -0.880558 PMC12902236-mmc6.pdf-26-ENSG00000186300_ZNF555 Rummagene Transcription Factor Associations 2026 1.0 null JAK2_druginhibition_168_GSE38335 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 0.865223 RAD21_HepG2_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_H7_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null ALVA31 BioGPS Cell Line Gene Expression Profiles -1.0 -0.871575 normal GeneRIF Biological Term Annotations 1.0 null Neural tube TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.681 Cognitive function GWAS Catalog SNP-Phenotype Associations 2025 1.0 0.622185 BRAF LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00887782 abnormality of finger HPO Gene-Disease Associations 1.0 null HT CCLE Cell Line Gene CNV Profiles -1.0 -2.03403 PF-59-CY33_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.227514 BRD-A45498368_WYE-125132_HA1E_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null trichostatin A-6820 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CTCF_retinal pigment epithelial cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE171837_1_v_2_bortezomib_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K97122937 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.4517 BRD-K91084609 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.36156 BRD-K08867654 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.16728 Alport syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.196 CTCF_endothelial cell of umbilical vein_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null Axonemal central apparatus COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.407 TATDN1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.06654 Kidney renal clear cell carcinoma_KIRC_TCGA-B0-5107-01A-01R-1420-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Kidney renal papillary cell carcinoma_KIRP_TCGA-B3-3925-01A-02R-1351-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null brain TISSUES Experimental Tissue Protein Expression Evidence Scores 1.0 0.766457 BRD-K11054031 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.33453 abnormal vertebral column morphology MPO Gene-Phenotype Associations 1.0 null H3K9ac_Brain Substantia Nigra Roadmap Epigenomics Histone Modification Site Profiles 1.0 null MHHNB11 CCLE Cell Line Gene Expression Profiles 1.0 1.62989 H3K79me2_K562_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-EE-A2MD-06A-11R-A18T-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GSE142210_9_v_7_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null absent supraoccipital bone MGI Mouse Phenotype Associations 2023 1.0 null tiapride-2331 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null TP53-22573176-HFKS-HUMAN ChEA Transcription Factor Binding Site Profiles 1.0 null AZD 6482 DeepCoverMOA Drug Mechanisms of Action 1.0 0.52 BRD-K64770897 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.44311 CRCGN011_HEPG2_24H:D19 Carcinogenome Chemical Perturbation Carcinogenicity Signatures -1.0 -2.13975 GTEX-SJXC-0726-SM-2XCFJ GTEx Tissue Sample Gene Expression Profiles 1.0 1.12302 Polycystic kidney disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.141 CTCF_GM19240_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null trichostatin A-2370 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CTCF_HGPS cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null SKBR3 Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles -1.0 -1.1668 TAF1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null zardaverine-4793 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null FOS_MCF 10A_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GAMT CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.98271 Ciliary necklace COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.759 Lung adenocarcinoma_LUAD_TCGA-55-8512-01A-11R-2403-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PMC12254391-41598_2025_8960_MOESM5_ESM.xlsx-fig-Supplemental_Table_6_Differentially_Expressed_Genes_DEG_between_siRNA_DLX4_and_siRNA_control_n_3_RA_FLS_cell_lines_per_treatment_group_DLX4 Rummagene Transcription Factor Associations 2026 1.0 null H3K4me3_megakaryocyte_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null chronic kidney disease HPO Gene-Disease Associations 1.0 null CRCGN015_MCF10A_48H:A19 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.02579 retrotrapezoid nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.26158 Cerebellar disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.146 BRD-K97624648 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.45669 GTEX-X4EO-0526-SM-3P5Z3 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.02327 CRCGN008_HEPG2_24H:K10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.18855 BRD-K80700417_SGI-1776_HT29_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_keratinocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null anterior (rostral) cingulate (medial prefrontal) cortex_2 yrs_F_12979 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -2.23447 GSE231745_1_v_0_venetoclax_human RummaGEO Drug Perturbation Signatures -1.0 null CREM-20920259-GC1-SPG-MOUSE ChEA Transcription Factor Binding Site Profiles 1.0 null GSE182680,GSE182683_0_v_8_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null PMC3853418-1756-8935-6-34-S3.pdf-18-CREB1_CREB1 Rummagene Transcription Factor Associations 2026 1.0 null GSE205730,GSE205731_2_v_1_tazemetostat_human RummaGEO Drug Perturbation Signatures 1.0 null CTCF_endothelial cell of umbilical vein_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null HUP-T4 COSMIC Cell Line Gene Mutation Profiles 1.0 null 496100616_FWM_no dementia_TBI_84_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.5728 LTV1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.48822 GTEX-WK11-2526-SM-3NM9Y GTEx Tissue Sample Gene Expression Profiles -1.0 -1.11571 ventromedial hypothalamic nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.866023 GTEX-TSE9-3126-SM-4DXSY GTEx Tissue Sample Gene Expression Profiles 1.0 1.70904 PMC6904118-NIHMS1544763-supplement-5.xlsx-MYB_Individual-MYB_sgRNA-6_MYB Rummagene Transcription Factor Associations 2026 1.0 null MYC_endothelial cell of umbilical vein_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_fibroblast of villous mesenchyme_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null Prechordal mesendoderm TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.64 NCI-H1563 COSMIC Cell Line Gene Mutation Profiles 1.0 null BRD-K43245338_-666_HEPG2_6.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_cardiac mesoderm_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H322T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.19386 skbr3 HPA Cell Line Gene Expression Profiles -1.0 -1.57985 PMC10661700-41525_2023_383_MOESM2_ESM.xlsx-Supp_Table8_gnomAD_AFR_GCR-SYMBOL_NR3C1 Rummagene Transcription Factor Associations 2026 1.0 null GTEX-T6MN-2726-SM-4DM77 GTEx Tissue Sample Gene Expression Profiles 1.0 0.971663 BRD-K96389533 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.81028 inferolateral temporal cortex (area TEv, area 20)_2 yrs_F_12979 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.29001 paraventricular nuclei, left of thalamus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 2.06614 PAK6 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00667355 CRCGN015_MCF10A.WT.HP_24H:K18 Carcinogenome Chemical Perturbation Carcinogenicity Signatures -1.0 -2.0596 phenotypic abnormality GWASdb SNP-Phenotype Associations 1.0 0.028542 p3 portion of paranigral nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.05836 PMC10425715-Supplementary_material-Suppl.3-s3.docx-10-TP63_TP63 Rummagene Transcription Factor Associations 2026 1.0 null Adrenocortical carcinoma_ACC_TCGA-OR-A5JV-01A-11R-A29S-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Blindness DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.558 CIB4 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00739355 abnormal palate development MPO Gene-Phenotype Associations 1.0 null BRD-K23326916 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.03016 GSE126463_4_v_3_pomalidomide_human RummaGEO Drug Perturbation Signatures 1.0 null GTEX-S3XE-0426-SM-3K2AC GTEx Tissue Sample Gene Expression Profiles -1.0 -0.884975 GSE128099,GSE128159_3_v_2_gemcitabine_human RummaGEO Drug Perturbation Signatures 1.0 null MAFF_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null HCN1 Pathway Commons Protein-Protein Interactions 1.0 null BRD-K35193502 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.9663 U178 CCLE Cell Line Gene CNV Profiles -1.0 -1.65582 Abnormality Of The Ribs DisGeNET Gene-Disease Associations 1.0 null GSE138672_4_v_3_rabgef1_mouse RummaGEO Gene Perturbation Signatures -1.0 null GTEX-S4UY-1226-SM-4AD51 GTEx Tissue Sample Gene Expression Profiles 1.0 0.947023 Pheochromocytoma and Paraganglioma_PCPG_TCGA-QR-A70T-01A-11R-A35K-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null 496100527_FWM_possible Alzheimer's disease_no TBI_90-94_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -3.32216 PMC2263127-pone.0001816.s001.xls-E2F3_down_Bild-Symbol_E2F3 Rummagene Transcription Factor Associations 2026 1.0 null GTEX-WZTO-0826-SM-3NM8Q GTEx Tissue Sample Gene Expression Profiles -1.0 -0.985285 BRD-K88996418 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.45156 STK33_SKM MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations 1.0 null (-)-isoprenaline-3571 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null signal transduction GO Biological Process Annotations 2015 1.0 null OAS2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00596889 GSE158834_2_v_6_palmitic acid_human RummaGEO Drug Perturbation Signatures 1.0 null Medial amygdalar nucleus, posterodorsal part, sublayer a Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.25881 POLR2AphosphoS5_U-87 MG_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE120413,GSE120447_0_v_2_bap1_mouse RummaGEO Gene Perturbation Signatures -1.0 null EM2 DepMap CRISPR Gene Dependency 1.0 2.93956 CRCGN011_HEPG2_24H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.50935 CRCGN015_MCF10A_48H:C23 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.4962 RFX5_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K25149224 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.90722 SIN3A_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null HK2 CCLE Cell Line Gene Expression Profiles 1.0 1.76705 anterior (rostral) cingulate (medial prefrontal) cortex_19 pcw_F_12885 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.93174 Nephronophthisis DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 GTEX-R55F-0005-SM-2TF4W GTEx Tissue Sample Gene Expression Profiles -1.0 -1.72957 GSE220942_2_v_1_galnt7_human RummaGEO Gene Perturbation Signatures -1.0 null GSE139455_0_v_3_stat3_human RummaGEO Gene Perturbation Signatures -1.0 null fusidic acid-5353 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null interleukin-27 complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.337751 H3K9ac_Fetal Lung Roadmap Epigenomics Histone Modification Site Profiles 1.0 null CTCF_GM12873_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_GM10266_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CAL-12T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.12445 SK-BR-3 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.95362 POLR2A_brain_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-SIU8-0006-SM-2XCE5 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.28666 hsa-miR-524-5p TargetScan Predicted Nonconserved microRNA Targets 1.0 1.20993 GTEX-T8EM-0006-SM-3DB71 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.35166 GR MotifMap Predicted Transcription Factor Targets 1.0 null Perturb_13067_KO_Ube3d_SRP373803 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations 1.0 6.3591 trichostatin A-6784 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-V1D1-0926-SM-4JBHQ GTEx Tissue Sample Gene Expression Profiles 1.0 1.29307 NCIN87 CCLE Cell Line Gene CNV Profiles -1.0 -1.45816 hsa-miR-574-5p TargetScan Predicted Nonconserved microRNA Targets 1.0 0.965816 MHH-NB-11 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.88223 GTEX-S3XE-2026-SM-3K2B5 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.878194 Brain Lower Grade Glioma_LGG_TCGA-DU-6406-01A-11R-1708-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null EF-80-OD07_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.307358 protein localization to ciliary membrane GO Biological Process Annotations 2023 1.0 null Coated vesicle membrane COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.135 H3K9ac_Breast Myoepithelial Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null CTCF_MCF-7_hg19_8 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K77875023 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.39552 POLR2A_GM15510_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K36795325 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.31355 H3K4me3_GM12878_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null POLR2A_MCF-7_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Uterine Carcinosarcoma_UCS_TCGA-NF-A4WX-01A-11R-A28V-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K69932463_AZD8055_MCF7_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE213588_10_v_5_trametinib_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K27692586 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.00155 motile cilium COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.237908 Kaposi Sarcoma DisGeNET Gene-Disease Associations 1.0 null USF1_A549_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-XBED-1126-SM-48TCF GTEx Tissue Sample Gene Expression Profiles 1.0 1.15734 BRD-K60653414 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.13754 KMS-11 COSMIC Cell Line Gene Mutation Profiles 1.0 null CTCF_WERI-Rb-1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2A_kidney_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE218378_1_v_0_pbx1_human RummaGEO Gene Perturbation Signatures 1.0 null GTEX-S4P3-1626-SM-3K2AZ GTEx Tissue Sample Gene Expression Profiles -1.0 -0.865507 Skin Cutaneous Melanoma_SKCM_TCGA-GN-A26D-06A-11R-A18T-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K9ac_CD14-positive monocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Adrenal Gland GTEx Tissue Gene Expression Profiles 2023 1.0 1.27826 TRIB2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.40329 isthmic portion of paranigral nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.15487 trichostatin A-3243 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K02130563_S1030_PC3_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CREB1_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-OHPL-0006-SM-3MJHB GTEx Tissue Sample Gene Expression Profiles -1.0 -1.36173 mefloquine-1364 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null PMC3435504-msb201237-s2.xls-Supp_Table_4a-NFYB_NFYB Rummagene Transcription Factor Associations 2026 1.0 null staurosporine-423 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GTEX-N7MS-0007-SM-2D7W1 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.35676 Plantlet TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.038 496100330_PCx_possible Alzheimer's disease_no TBI_100+_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.89222 CTCF_A549_hg19_8 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K21672174_Ro 28-1675 ?_HA1E_24.0_h_160.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CHEK1_knockdown_136_GSE31534 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 1.42841 17638893-SuppTable2 GeneSigDB Published Gene Signatures 1.0 null KMT2A MSigDB Cancer Gene Co-expression Modules 1.0 null Calvarium TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.94 NKX2-2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.02217 periventricular stratum of m1B Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.20834 GSE158834_1_v_8_palmitic acid_human RummaGEO Drug Perturbation Signatures -1.0 null POLR2AphosphoS5_HCT116_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null sense organ TISSUES Curated Tissue Protein Expression Evidence Scores 1.0 null TEAD4_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-A38030642_cyclosporin A_HA1E_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CC-17-JL38_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.309563 trichostatin A-5017 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null YY1_SK-N-SH_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null protein localization to cell periphery GO Biological Process Annotations 2023 1.0 null ventrolateral prefrontal cortex_19 pcw_F_12885 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.12997 H3K4me3_liver_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null CAL 27 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.17489 RAD21_H1-hESC_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me2_myocyte_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-UJHI-1226-SM-4IHLR GTEx Tissue Sample Gene Expression Profiles 1.0 1.49024 KEAP1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00807452 Nausea CTD Gene-Disease Associations 1.0 1.03456 HCFC1_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null MSTO211H DepMap CRISPR Gene Dependency 1.0 3.98024 NAT14 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.91323 Lung squamous cell carcinoma_LUSC_TCGA-90-7767-11A-01R-2125-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Short Ribs DisGeNET Gene-Phenotype Associations 1.0 null estradiol-1633 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null PMC12209767-bcd-25-0099_supplementary_table_s2_suppst2.xlsx-C_DEGs_RNA-seq-Supplementary_table_S2C_List_of_differentially_expressed_genes_in_IGHUND_vs_IGH_GCB_MB2_DE_DLBCL_HGBCL-DH-BCL2_-BCL6_BCL6 Rummagene Transcription Factor Associations 2026 1.0 null GSE158834_1_v_5_palm_human RummaGEO Gene Perturbation Signatures -1.0 null BRD-K67868012_PI-103_A549_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K02681754 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.56623 sulindac-5528 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null SIN3A ENCODE Transcription Factor Targets 1.0 null hippocampus (hippocampal formation)_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.66951 ventrolateral prefrontal cortex_36 yrs_M_12302 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.46861 YY1 ENCODE Transcription Factor Targets 1.0 null mantle zone of AOB Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.74309 GSE221327_8_v_9_clpp_human RummaGEO Gene Perturbation Signatures 1.0 null cellular process GO Biological Process Annotations 2015 1.0 null GSE57871_1_v_12_vorinostat_human RummaGEO Drug Perturbation Signatures 1.0 null GSE48812_0_v_1_sulforaphane_human RummaGEO Drug Perturbation Signatures -1.0 null deferoxamine-460 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null broad phalanx of the toes HPO Gene-Disease Associations 1.0 null PD-70-VS77_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.318916 dichlorophen LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.17681 parabigeminal nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.59451 GSE210101,GSE210114_4_v_3_urod_human RummaGEO Gene Perturbation Signatures 1.0 null ventral tegmental area Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.70276 abnormality of the hand HPO Gene-Disease Associations 1.0 null Toc complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.982 valproic acid-458 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null intracellular non-membrane-bounded organelle GO Cellular Component Annotations 2015 1.0 null duplication involving bones of the feet HPO Gene-Disease Associations 1.0 null thyroid gland HPA Tissue Protein Expression Profiles 1.0 1.06804 Vas deferens TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.967 hsa-miR-548p TargetScan Predicted Nonconserved microRNA Targets 1.0 1.99187 Biliary tract disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.286 ELK1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me1_GM12878_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null hippocampus (hippocampal formation)_16 pcw_M_12287 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.968484 Brain Lower Grade Glioma_LGG_TCGA-DU-7290-01A-11R-2027-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null JIMT1 CCLE Cell Line Gene CNV Profiles -1.0 -2.25243 ELK1 ENCODE Transcription Factor Targets 1.0 null organelle LOCATE Predicted Protein Localization Annotations 1.0 null anteverted nares HPO Gene-Disease Associations 1.0 null Spine apparatus COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.127 disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.263014 H3K4me1_osteoblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-T8EM-0226-SM-3DB7C GTEx Tissue Sample Gene Expression Profiles 1.0 1.00336 H3K4me3_small intestine_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null PMC7181646-41523_2020_157_MOESM4_ESM.xlsx-RNAseq_KD_vs_Control_DEG-GeneName_AR Rummagene Transcription Factor Associations 2026 1.0 null CTCF_GM12865_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null globe disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.399707 primary cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.980501 Eye disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 GTEX-XYKS-0005-SM-4BRUD GTEx Tissue Sample Gene Expression Profiles -1.0 -1.275 Lung adenocarcinoma_LUAD_TCGA-44-7659-01A-11R-2066-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-V1D1-0006-SM-3NMCE GTEx Tissue Sample Gene Expression Profiles -1.0 -1.1011 CTCF_HeLa-S3_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null Flagellum attachment zone COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.632 GTEX-X261-0326-SM-3NMD4 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.99486 abnormal diaphysis morphology HPO Gene-Disease Associations 1.0 null USF1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Y-shaped link COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.987 abnormality of the orbital region HPO Gene-Disease Associations 1.0 null BRD-K74978191 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.33923 BRD-K12801140 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.25707 RCOR1_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Acquired metabolic disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.233 abnormality of the abdomen HPO Gene-Disease Associations 1.0 null cellular_component GO Cellular Component Annotations 2015 1.0 null GTEX-NPJ8-0007-SM-2D7VX GTEx Tissue Sample Gene Expression Profiles -1.0 -3.09832 GSE188458_2_v_4_hydrogen peroxide_human RummaGEO Drug Perturbation Signatures -1.0 null DE-99-OT37_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.24725 Kidney Diseases CTD Gene-Disease Associations 1.0 1.74661 nicotine_myzus persicae_gpl9470_gse18658 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null PMC4595011-pgen.1005555.s001.xlsx-MITF_UP-regulated-Ensembl_gene_id_MITF Rummagene Transcription Factor Associations 2026 1.0 null H3K4me1_skeletal muscle myoblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_CH12.LX_mm9_5 ENCODE Histone Modification Site Profiles 1.0 null H3K9ac_astrocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-A55722685 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.35952 BRD-K15690866 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.03647 BRD-K46056750_HY-10992_SKB_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Orofaciodigital syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.215 BRD-K53634892 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.47342 Microtubule COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.015 GTEX-R55D-0006-SM-3GIJS GTEx Tissue Sample Gene Expression Profiles -1.0 -1.79317 GTEX-QVUS-2926-SM-3GIJB GTEx Tissue Sample Gene Expression Profiles 1.0 1.20588 GTEX-WHSE-3126-SM-3P5ZI GTEx Tissue Sample Gene Expression Profiles 1.0 0.850359 Premature Menopause DisGeNET Gene-Disease Associations 1.0 null HOXB7-26014856-BT474-HUMAN ChEA Transcription Factor Targets 2022 1.0 null GTEX-WFJO-0226-SM-3GIKW GTEx Tissue Sample Gene Expression Profiles 1.0 1.5832 Asphyxiating thoracic dystrophy DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 3.252 MYC_MCF 10A_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K54751293 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.80795 BRD-K43611837 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.78565 bardet-biedl syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 1.28479 GTEX-QDT8-0011-R11A-SM-32PKD GTEx Tissue Sample Gene Expression Profiles 1.0 1.16562 carbamazepine-1847 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null ZC3H11A_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null intermediate stratum of r2Tr Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.32387 GTEX-X62O-0005-SM-46MV1 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.988503 Prostate adenocarcinoma_PRAD_TCGA-EJ-7781-11A-01R-2118-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CAKUT DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.258 layer 3 of LOT Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.12308 IQGAP1 Pathway Commons Protein-Protein Interactions 1.0 null 20368555-TS-1 GeneSigDB Published Gene Signatures 1.0 null HEY DepMap CRISPR Gene Dependency 1.0 3.33145 polydactyly HPO Gene-Disease Associations 1.0 null ES-2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.22997 KMS-28PE Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.846896 GSE175787_4_v_10_rhoc_human RummaGEO Gene Perturbation Signatures -1.0 null BRD-K91998226 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.25487 respiratory tract infection HPO Gene-Disease Associations 1.0 null GSE146072_0_v_1_cisplatin_mouse RummaGEO Drug Perturbation Signatures -1.0 null PTEN_01_303 KnockTF Gene Expression Profiles with Transcription Factor Perturbations -1.0 -0.60802 RUNX2-24764292-MC3T3-MOUSE ChEA Transcription Factor Targets 2022 1.0 null BRD-K60131990 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.0665 HCN2 Pathway Commons Protein-Protein Interactions 1.0 null Orofaciodigital syndrome IV DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.831 PRPS1L1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00630318 GSE142210_11_v_6_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null 19207613-table1 GeneSigDB Published Gene Signatures 1.0 null H2AFZ_astrocyte_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_brain_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null intraciliary transport particle b COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 1.36637 cleft palate MPO Gene-Phenotype Associations 1.0 null Nystagmus DisGeNET Gene-Disease Associations 1.0 null tonzonium bromide-4617 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null SNU410 CCLE Cell Line Gene CNV Profiles -1.0 -2.47533 GSE184884_6_v_5_gps2_mouse RummaGEO Gene Perturbation Signatures -1.0 null Pheochromocytoma and Paraganglioma_PCPG_TCGA-SR-A6MQ-01A-11R-A35L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K27ac_Panc1_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null SNU1105 CCLE Cell Line Gene CNV Profiles -1.0 -1.72234 PMC10602967-18_2023_4927_MOESM3_ESM.xlsx-MBNL1_KD_HFE-145-Unnamed_2_AR Rummagene Transcription Factor Associations 2026 1.0 null BRD-A39521712 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.02833 ELF1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null ETS2 MotifMap Predicted Transcription Factor Targets 1.0 null BRD-K33775409 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.32049 BRD-K36252987 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.1001 GSE218819_3_v_4_kdm5b_human RummaGEO Gene Perturbation Signatures 1.0 null Accessory olfactory bulb Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.52455 imatinib_homo sapiens_gpl96_gds3045 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-56-8307-01A-11R-2296-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-QVJO-0006-SM-2S1RC GTEx Tissue Sample Gene Expression Profiles -1.0 -1.73688 GSE155305_2_v_1_ifitm3_mouse RummaGEO Gene Perturbation Signatures 1.0 null H3K4me1_astrocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null SP1_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE207514,GSE207515_2_v_3_acetylcysteine_human RummaGEO Drug Perturbation Signatures 1.0 null GTEX-T5JW-0005-SM-3GADE GTEx Tissue Sample Gene Expression Profiles -1.0 -1.29559 Ciliary pocket collar COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.507 IPO13 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 3.41605 dorsal septopreoptic nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.21371 cleft palate DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.385936 PMC12273355-12882_2025_4346_MOESM1_ESM.docx-0-SOX17_SOX17 Rummagene Transcription Factor Associations 2026 1.0 null TBCCD1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.00989 layer 3 of VPrP cortex Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.05587 GSDMB CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.06493 GTEX-QDT8-3026-SM-32PKB GTEx Tissue Sample Gene Expression Profiles 1.0 1.1722 Male infertility DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.699 CTCF_GM12870_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null autosomal recessive disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.650903 periventricular stratum of r5Co Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.35067 H2AFZ_keratinocyte_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE89767_6_v_5_cebpa_mouse RummaGEO Gene Perturbation Signatures 1.0 null GSE158834_7_v_6_palmitic acid_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K33869336 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.07146 Lung adenocarcinoma_LUAD_TCGA-62-A46O-01A-11R-A24H-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Ciliary tip COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 4.0 GTEX-UTHO-2926-SM-3P5Z9 GTEx Tissue Sample Gene Expression Profiles 1.0 0.999483 H3K9me3_fibroblast of lung_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null musculoskeletal system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.043362 Prelimbic area, layer 5 Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.22041 JL-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.88253 H3K9ac_Chondrocytes from Bone Marrow Derived Mesenchymal Stem Cell Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null H3K4me3_fibroblast of lung_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null NELFE_MEL cell line_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CHAGO-K-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null AKT1_knockout_215_GSE39699 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 1.45296 H3K4me3_G1E-ER4_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_cardiac mesoderm_hg19_5 ENCODE Histone Modification Site Profiles 1.0 null USF1 ENCODE Transcription Factor Targets 1.0 null 496100412_FWM_possible Alzheimer's disease_TBI_87_F Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.26282 abnormality of the cardiovascular system GWASdb SNP-Phenotype Associations 1.0 0.046092 diflorasone-4158 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Abnormality Of Pelvic Girdle Bone Morphology DisGeNET Gene-Disease Associations 1.0 null CTCF_epithelial cell of esophagus_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null receptor clustering GO Biological Process Annotations 2015 1.0 null RAD21_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Lung adenocarcinoma_LUAD_TCGA-97-8552-01A-11R-2403-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null MYC_MCF 10A_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Cerebral degeneration DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.429 CRCGN017_MCF10A.WT.HP_24H:C02 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.31006 Heart Defects, Congenital CTD Gene-Disease Associations 1.0 1.09083 H3K4me3_astrocyte of the spinal cord_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null cell part GO Cellular Component Annotations 2015 1.0 null BRD-K04887706_AKT-inhibitor-1-2_MCF10A_3_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CTCF_keratinocyte_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null pergolide-7031 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null fulvestrant-704 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null H3K4me1_Brain Cingulate Gyrus Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GSE142210_9_v_8_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null PMC10282096-41467_2023_39038_MOESM4_ESM.xlsx-All_genes_Upregulated-ENSG00000177426_TGIF1 Rummagene Transcription Factor Associations 2026 1.0 null abnormality of the skin HPO Gene-Disease Associations 1.0 null SCCPDH CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.1155 abnormal embryogenesis/ development MPO Gene-Phenotype Associations 1.0 null H3K9ac_A549_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null SOCS3_KO_GDS3149_8_mouse_multiple cell types GEO Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 null GSE104508_0_v_3_dnmt3a_mouse RummaGEO Gene Perturbation Signatures -1.0 null abnormal sternum ossification MPO Gene-Phenotype Associations 1.0 null abnormality of the lower limb HPO Gene-Disease Associations 1.0 null Mesothelioma_MESO_TCGA-LK-A4NY-01A-11R-A34F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CHD2_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Kidney renal papillary cell carcinoma_KIRP_TCGA-SX-A71S-01A-11R-A33Z-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null frontal bossing HPO Gene-Disease Associations 1.0 null Sperm flagellum COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.792 JHH-7 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.20729 GSE218960_0_v_1_nrf1_mouse RummaGEO Gene Perturbation Signatures -1.0 null ventrolateral prefrontal cortex_37 yrs_M_12303 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.925539 gracile nucleus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.24686 Brain Lower Grade Glioma_LGG_TCGA-DH-A669-01A-12R-A31N-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null peri-centrosomal recycling endosome COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.833 EP300_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_Colon Smooth Muscle Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Lung adenocarcinoma_LUAD_TCGA-NJ-A55A-01A-11R-A262-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null MYC_MCF-7_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null Metanephron TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.655 Endochondral bone TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.136 BRD-K92891227 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.07425 Head and Neck squamous cell carcinoma_HNSC_TCGA-CV-6934-11A-01R-1915-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K4me3_MEL cell line_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null SIN3A_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null orofacial cleft DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.324094 anterior cortical amygdaloid area Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.43035 Skin Cutaneous Melanoma_SKCM_TCGA-FS-A1ZT-06A-11R-A18U-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null SP1 ENCODE Transcription Factor Targets 1.0 null GSE167373_0_v_3_rbfox1_human RummaGEO Gene Perturbation Signatures -1.0 null KYSE-70 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.65311 H2AFZ_osteoblast_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE195713_0_v_1_lapatinib_human RummaGEO Drug Perturbation Signatures 1.0 null ventrolateral prefrontal cortex_19 pcw_F_12885 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.970808 fluocinonide-3414 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Lung adenocarcinoma_LUAD_TCGA-55-6986-11A-01R-1949-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-CX-A4AQ-01A-11R-A24Z-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null abnormality of limb bone morphology HPO Gene-Disease Associations 1.0 null abnormal retinal pigmentation HPO Gene-Disease Associations 1.0 null RAD21_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null HA-E2F1_MCF-7_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null OB inner plexiform layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.44713 MG-63 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.845897 Short-Rib Thoracic Dysplasia DisGeNET Gene-Disease Associations 1.0 null Wing disc TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.007 blood pressure determination GAD Gene-Disease Associations 1.0 null BL1163 (SNIP1) NURSA Protein Complexes 1.0 null GSE158834_10_v_8_palm_human RummaGEO Gene Perturbation Signatures -1.0 null CTCF_skeletal muscle myoblast_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null HCC2279 CCLE Cell Line Gene CNV Profiles 1.0 1.47455 H3K4me3_choroid plexus epithelial cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null single-organism cellular localization GO Biological Process Annotations 2015 1.0 null ribonucleoprotein complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.055586 GSE180200,GSE180201_12_v_6_qpctl_mouse RummaGEO Gene Perturbation Signatures 1.0 null H2AFZ_T-cell acute lymphoblastic leukemia_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Vesicoureteral reflux DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.23 primary motor-sensory cortex (samples)_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.02289 CESS GDSC Cell Line Gene Expression Profiles -1.0 -1.63283 GTEX-SN8G-1526-SM-4DM79 GTEx Tissue Sample Gene Expression Profiles 1.0 1.86088 raubasine-1748 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null intraciliary transport particle COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 GSE209598_1_v_2_tgfbr2_mouse RummaGEO Gene Perturbation Signatures -1.0 null anomalies GeneRIF Biological Term Annotations 1.0 null HOXD9 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 30.3068 MITF-21258399-MELANOMA-HUMAN ChEA Transcription Factor Binding Site Profiles 1.0 null GTEX-S4Q7-0326-SM-3K2B1 GTEx Tissue Sample Gene Expression Profiles 1.0 1.17777 primary somatosensory cortex (area S1, areas 3,1,2)_21 yrs_F_13057 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -0.899168 Liver hepatocellular carcinoma_LIHC_TCGA-EP-A2KA-01A-11R-A180-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GSE192689_0_v_1_ricin_mouse RummaGEO Drug Perturbation Signatures -1.0 null RCOR1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null nitrofurantoin-2341 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K85362541 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.38394 H3K4me1_liver_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K67082570 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.10542 MDA-MB-415 GDSC Cell Line Gene Expression Profiles -1.0 -1.42855 BRD-K25187028 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.0401 PRMT1 NURSA Protein-Protein Interactions 1.0 0.051057 microdontia HPO Gene-Disease Associations 1.0 null amygdaloid complex_21 yrs_F_13057 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.09938 Microtubule organizing center COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.045 Lymphoid Neoplasm Diffuse Large B-cell Lymphoma_DLBC_TCGA-GR-A4D4-01A-11R-A31O-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Cone cell pedicle COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.518 MCF7_AG-14361_100nM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.0134091 Orofaciodigital syndrome VII DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.435 Thoracic Hypoplasia DisGeNET Gene-Disease Associations 1.0 null CRCGN015_MCF10A_48H:C21 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.93252 BRD-K02708799_GSK-1059615_HA1E_24_h_1.11_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null PMC4051124-1471-2164-15-256-S15.XLSX-WES_IPD-RBCK1_1-Target_RBCK1 Rummagene Transcription Factor Associations 2026 1.0 null renal GeneRIF Biological Term Annotations 1.0 null Caroli disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.484 FF-28-ES17_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.312472 Inner medullary collecting duct TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.926 Lung adenocarcinoma_LUAD_TCGA-55-6978-11A-01R-1949-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-XBED-2526-SM-47JYD GTEx Tissue Sample Gene Expression Profiles 1.0 1.16306 GSE200352_4_v_8_pparg_mouse RummaGEO Gene Perturbation Signatures 1.0 null POLR2AphosphoS5_SK-N-SH_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Joubert syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.613 hippocampus (hippocampal formation)_19 pcw_F_12885 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.938228 SIN3B-21632747-MESCS-MOUSE ChEA Transcription Factor Targets 2022 1.0 null PMC4823830-ncomms11171-s4.xlsx-high_in_shRNA_GATA3-GeneSymbol_GATA3 Rummagene Transcription Factor Associations 2026 1.0 null GTEX-NPJ8-1426-SM-3MJHR GTEx Tissue Sample Gene Expression Profiles 1.0 1.65131 DMS79 CCLE Cell Line Gene Expression Profiles -1.0 -1.58868 membrane-bounded organelle COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.305515 trichostatin A-7043 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-43-5670-11A-01R-2125-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PMC8755441-mmc3.xlsx-IRF3-Up-IRF3-GM12878_IRF3 Rummagene Transcription Factor Associations 2026 1.0 null ciclacillin-3882 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null cerebellar cortex_30 yrs_F_12290 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.36417 ELF1_A549_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null epicanthus HPO Gene-Disease Associations 1.0 null SHP77 CCLE Cell Line Gene CNV Profiles -1.0 -1.44637 MXI1_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null motile cilium GO Cellular Component Annotations 2023 1.0 null AA-22-UI44_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.293983 GTEX-UPJH-0006-SM-3GACW GTEx Tissue Sample Gene Expression Profiles -1.0 -1.02569 BRD-A18328003_GDC-0980_HA1E_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CTCF_HEK293_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K55105453 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.06153 GSE130676_0_v_1_suds3_human RummaGEO Gene Perturbation Signatures 1.0 null SMC3_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_retinal pigment epithelial cell_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null INSM2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.58133 CTCF_BE2C_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN016_MCF10A.WT.HP_24H:K08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 7.49215 Movement Disorders CTD Gene-Disease Associations 1.0 1.05573 disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null GTEX-OHPL-1626-SM-2HMIR GTEx Tissue Sample Gene Expression Profiles -1.0 -1.0503 HINFP CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.01533 H3ac_C2C12_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null PAPSS2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00573936 cellular component organization GO Biological Process Annotations 2015 1.0 null GSE158431_5_v_1_pioglitazone_mouse RummaGEO Drug Perturbation Signatures -1.0 null RAD21_IMR-90_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null USF2_MEL cell line_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null norethisterone-5474 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Mainzer-Saldino Disease DisGeNET Gene-Disease Associations 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-CR-6467-01A-11R-1873-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null POLR2A_embryonic fibroblast_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormality of the external nose HPO Gene-Disease Associations 1.0 null trichostatin A-6972 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null EFO-27 COSMIC Cell Line Gene Mutation Profiles 1.0 null NRF1_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null FOXA1_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE88819_3_v_12_tug1_mouse RummaGEO Gene Perturbation Signatures -1.0 null PMC10534007-Table_2.xlsx-S4_unique_down_MSC_V-745_elements_included_exclusively_in_VM-CUB1_MSC_down_MSC Rummagene Transcription Factor Associations 2026 1.0 null CKS1B CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.33295 superficial stratum of r7BL Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.35067 GSE218819_2_v_1_kdm5b_human RummaGEO Gene Perturbation Signatures -1.0 null BRD-K93032100 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.19461 H3K4me3_HL-60_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_K562_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null abnormal palatal shelf fusion at midline MPO Gene-Phenotype Associations 1.0 null Autosomal dominant disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.606 CTCF_HEK293_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE208171_0_v_1_zc4h2_human RummaGEO Gene Perturbation Signatures 1.0 null GSE182680,GSE182683_7_v_3_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null GSE191015_0_v_2_gsdmb_human RummaGEO Gene Perturbation Signatures -1.0 null abnormality of the 5th toe HPO Gene-Disease Associations 1.0 null BRD-K68174511_torin-2_HA1E_24_h_0.37_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE135514_8_v_0_dasatinib_human RummaGEO Drug Perturbation Signatures 1.0 null elevated serum creatinine HPO Gene-Disease Associations 1.0 null abnormal maxilla morphology MGI Mouse Phenotype Associations 2023 1.0 null GSE242290_1_v_0_glutathione_human RummaGEO Drug Perturbation Signatures -1.0 null Proteinuria DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.147 periventricular stratum of OB Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.18014 Midbrain raphe nuclei Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.5098 GSE182680,GSE182683_0_v_3_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-FS-A4F2-06A-11R-A24X-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null abnormality of the calvaria HPO Gene-Disease Associations 1.0 null BRD-K63068307_ZSTK-474_HME1_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null MAX_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_myotube_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null thyroid GTEx Tissue Gene Expression Profiles 1.0 0.953179 MYC-30127528-KELLY-HUMAN-BRAIN-NEUROBLASTOMA ChEA Transcription Factor Targets 2022 1.0 null polydactyly MGI Mouse Phenotype Associations 2023 1.0 null vincamine-2367 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null abnormal muscle development MPO Gene-Phenotype Associations 1.0 null CRCGN017_MCF10A.TP53.M_24H:K08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 7.98566 CTCF_fibroblast of villous mesenchyme_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE158834_2_v_13_palmitic acid_human RummaGEO Drug Perturbation Signatures 1.0 null androsterone-2650 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null H2AFZ_mammary epithelial cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Ciliary pocket COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.55 GTEX-UTHO-0011-R11A-SM-3GIJE GTEx Tissue Sample Gene Expression Profiles 1.0 1.20588 abnormality of the clavicle HPO Gene-Disease Associations 1.0 null MFM-223 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.14682 BRD-K84062787 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.9543 lobelanidine-1747 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CRCGN015_MCF10A.WT.HP_24H:E16 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.18614 amygdaloid complex_3 yrs_M_12980 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -0.826861 MZ in medial temporal-occipital cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.969714 GSE171837_0_v_1_bortezomib_human RummaGEO Drug Perturbation Signatures -1.0 null ZKSCAN1_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Sarcoma_SARC_TCGA-IE-A6BZ-01A-11R-A30C-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Orofaciodigital syndrome III DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.45 GTEX-PLZ6-0006-SM-33HBZ GTEx Tissue Sample Gene Expression Profiles -1.0 -1.36396 GSE128730_0_v_2_neratinib_human RummaGEO Drug Perturbation Signatures 1.0 null GSE189653,GSE203344_5_v_1_fluoxetine_mouse RummaGEO Drug Perturbation Signatures -1.0 null IRF7 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 41.6123 496100436_FWM_no dementia_no TBI_95-99_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.16786 r1 part of dorsal raphe nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.08763 BRD-K34541722 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.50128 H4K8ac_IMR90 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Acute Myeloid Leukemia_LAML_TCGA-AB-2872-03A-01T-0735-13 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-UPIC-0226-SM-3GADO GTEx Tissue Sample Gene Expression Profiles 1.0 1.17736 CRCGN014_HEPG2_24H:M14 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.32422 cellular component organization or biogenesis GO Biological Process Annotations 2015 1.0 null H3K4me2_astrocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null ZNF143_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null epithelium TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.05224 BRD-K52881132 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.13268 Nucleus pulposus cell line TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.565 BRD-K58248556 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.1983 cilium assembly GO Biological Process Annotations 2023 1.0 null nephropathy HPO Gene-Disease Associations 1.0 null H3K4me3_lung_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null inferior olive, dorsal nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.833581 androsterone-5696 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null hypermetropia HPO Gene-Disease Associations 1.0 null pretectal nuclear complex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.848594 H3K4me3_keratinocyte_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null BRD-K44497547 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.65537 GTEX-WYJK-1726-SM-3NM9U GTEx Tissue Sample Gene Expression Profiles -1.0 -0.847108 cilium assembly GO Biological Process Annotations 2015 1.0 null Cholestasis CTD Gene-Disease Associations 1.0 1.15256 cytoplasm LOCATE Predicted Protein Localization Annotations 1.0 null cyclizine-1731 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null SCLC-21H Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.27843 colonrectum_d HPA Tissue Sample Gene Expression Profiles -1.0 -0.873137 HCN4 Pathway Commons Protein-Protein Interactions 1.0 null H3K4me3_BJ_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null GSE217405_0_v_1_osimertinib_mouse RummaGEO Drug Perturbation Signatures 1.0 null CAL27 DepMap CRISPR Gene Dependency 1.0 2.79464 short-rib thoracic dysplasia 5 with or without polydactyly OMIM Gene-Disease Associations 1.0 null abnormality of the genitourinary system HPO Gene-Disease Associations 1.0 null Fatty Liver CTD Gene-Disease Associations 1.0 1.81111 BIN67 DepMap CRISPR Gene Dependency 1.0 5.32396 BRD-K43364707 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.13543 Substance Withdrawal Syndrome CTD Gene-Disease Associations 1.0 1.08301 HCFC1 ENCODE Transcription Factor Targets 1.0 null abnormal middle ear morphology MPO Gene-Phenotype Associations 1.0 null KARPAS-1106P COSMIC Cell Line Gene Mutation Profiles 1.0 null telenzepine-5521 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null DCTN6 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.72191 CTCF_SK-N-SH_hg19_5 ENCODE Transcription Factor Binding Site Profiles 1.0 null macromolecule localization GO Biological Process Annotations 2015 1.0 null GSE72895,GSE72896_0_v_1_progesterone_mouse RummaGEO Drug Perturbation Signatures -1.0 null superficial stratum of r5Co Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.12632 Epiglottis TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.515 brachydactyly syndrome HPO Gene-Disease Associations 1.0 null CTCFL_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_cardiac mesoderm_hg19_7 ENCODE Histone Modification Site Profiles 1.0 null cilium GO Cellular Component Annotations 2025 1.0 null GSE242290_1_v_8_glutathione_human RummaGEO Drug Perturbation Signatures -1.0 null ventrolateral prefrontal cortex_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.983406 H3K4me3_fibroblast of foreskin _hg19_1 ENCODE Histone Modification Site Profiles 1.0 null KM-H2 GDSC Cell Line Gene Expression Profiles -1.0 -1.56239 Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-C5-A1ML-01A-11R-A14Y-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null medial superior olive Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.3242 TE4 CCLE Cell Line Gene Expression Profiles -1.0 -1.53453 PMC12441061-10157_2025_2675_MOESM2_ESM.docx-0-TBX18_TBX18 Rummagene Transcription Factor Associations 2026 1.0 null trichostatin A-1050 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE135030_8_v_2_fludarabine_human RummaGEO Drug Perturbation Signatures 1.0 null Spondyloepimetaphyseal dysplasia, Sponastrime type DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.143 MVB12A CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.21798 microtubule associated complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.644001 FF-86-NH56_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.273508 metitepine-6312 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GTEX-PLZ4-1226-SM-2I5FE GTEx Tissue Sample Gene Expression Profiles 1.0 3.24376 GSE127790_9_v_3_zcchc8_mouse RummaGEO Gene Perturbation Signatures 1.0 null abnormality of the dental root HPO Gene-Disease Associations 1.0 null abnormality of the urinary system HPO Gene-Disease Associations 1.0 null mammillary body, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.32203 19139136-TableS3 GeneSigDB Published Gene Signatures 1.0 null BRD-K06330738 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.02167 BT-549 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.04407 CFPAC-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.0146 GSE119345_0_v_3_bexarotene_human RummaGEO Drug Perturbation Signatures 1.0 null dorsolateral prefrontal cortex_4 yrs_M_12298 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -2.24587 CTCFL ENCODE Transcription Factor Targets 1.0 null BRD-K86371068 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.83913 NCI-H596 GDSC Cell Line Gene Expression Profiles -1.0 -1.4996 BRD-K62800316 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.25484 BRD-K80921954 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.74897 ZCRB1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.2615 H3K79me2_T-cell acute lymphoblastic leukemia_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null abnormal premaxilla morphology MPO Gene-Phenotype Associations 1.0 null CTCF_fibroblast of lung_hg19_5 ENCODE Transcription Factor Binding Site Profiles 1.0 null Bone disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.96 TEAD4 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 16.9719 H3K4me1_myotube_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Osteoporosis DisGeNET Gene-Disease Associations 1.0 null abnormal palate bone morphology MPO Gene-Phenotype Associations 1.0 null FTC-133 COSMIC Cell Line Gene Mutation Profiles 1.0 null sensenbrenner GeneRIF Biological Term Annotations 1.0 null Epiphysis TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.156 NRF1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null AF-99-HA02_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.249128 CTCF_fibroblast of foreskin _hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE76425_0_v_10_lenalidomide_human RummaGEO Drug Perturbation Signatures 1.0 null Urinary system disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 functional respiratory abnormality HPO Gene-Disease Associations 1.0 null sensenbrenner syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 1.91453 periventricular stratum of AOB Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.91891 PMC8256360-JCMM-25-6318-s002.docx-0-HNF1B_HNF1B Rummagene Transcription Factor Associations 2026 1.0 null PMC7498599-41467_2020_18508_MOESM11_ESM.xlsx-8cell_ZSCAN4-Unnamed_2_ZSCAN4 Rummagene Transcription Factor Associations 2026 1.0 null Cranioectodermal Dysplasia DisGeNET Gene-Disease Associations 1.0 null PMC4051124-1471-2164-15-256-S16.XLSX-WES_IPD-RBCK1_2-Target_RBCK1 Rummagene Transcription Factor Associations 2026 1.0 null CRCGN015_MCF10A.WT.HP_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 7.65593 H3K4me3_CH12.LX_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null TMBIM1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00538984 USF1_HepG2_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null trochlear nucleus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.24792 pigmentosa GeneRIF Biological Term Annotations 1.0 null BRD-K64717502 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.55 Radial spoke head COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.168 ventral striatum Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.12187 IL1RAPL2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00568099 Acute Myeloid Leukemia_LAML_TCGA-AB-2877-03A-01T-0735-13 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K69337311 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.19775 H3K4me3_fibroblast of villous mesenchyme_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null trichostatin A-5308 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null supramammillary nucleus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.48915 HOXA5 JASPAR Predicted Transcription Factor Targets 1.0 null podophyllotoxin-7198 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GTEX-XGQ4-0005-SM-4AT5U GTEx Tissue Sample Gene Expression Profiles -1.0 -1.94683 GTEX-RWS6-2426-SM-2XCB9 GTEx Tissue Sample Gene Expression Profiles 1.0 1.41382 HNPC cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.603 H3K4me3_thymus_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null CTCF_kidney_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Nucleoplasmic periphery of the nuclear pore complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.739 GTEX-PW2O-0006-SM-2I3DV GTEx Tissue Sample Gene Expression Profiles -1.0 -2.4044 GSE88819_11_v_9_tug1_mouse RummaGEO Gene Perturbation Signatures 1.0 null BRD-K50140147_NVP-TAE684_HME1_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null S0-EE-Y737_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.219111 BRD-K72636697_QL-X-138_HA1E_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CA-SKI COSMIC Cell Line Gene Mutation Profiles 1.0 null KE39 CCLE Cell Line Gene CNV Profiles 1.0 2.18517 cuneate nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.27201 abnormality of head or neck HPO Gene-Disease Associations 1.0 null HCC630 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.874841 Ependymocyte TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.152 GTEX-PVOW-2626-SM-32PL8 GTEx Tissue Sample Gene Expression Profiles 1.0 1.16616 radial deviation of the hand or of fingers of the hand HPO Gene-Disease Associations 1.0 null NCI-H2810 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.986061 H3K4me3_Brain Inferior Temporal Lobe Roadmap Epigenomics Histone Modification Site Profiles 1.0 null H3K27ac_embryonic fibroblast_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null POLR2AphosphoS5_HepG2_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null valproic acid-348 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CRK CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.86003 GTEX-RU72-2626-SM-4GIE1 GTEx Tissue Sample Gene Expression Profiles 1.0 1.28916 H3K4me3_mononuclear cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null D-263MG COSMIC Cell Line Gene Mutation Profiles 1.0 null Field CA1, stratum lacunosum-moleculare Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.11576 GSE180200,GSE180201_3_v_0_qpctl_mouse RummaGEO Gene Perturbation Signatures -1.0 null recurrent pneumonia HPO Gene-Disease Associations 1.0 null Ciliary cap COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.133 NCIH1836 CCLE Cell Line Gene Expression Profiles 1.0 1.76441 H4K5ac_H1 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null HCC1319 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.47105 decreased palatine bone horizontal plate size MPO Gene-Phenotype Associations 1.0 null Ectodermal Dysplasia DisGeNET Gene-Disease Associations 1.0 null H3K4me3_fibroblast of mammary gland_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null trichostatin A-2835 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Short Thorax DisGeNET Gene-Phenotype Associations 1.0 null BRD-K31889353 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.03047 A2780 GDSC Cell Line Gene Expression Profiles 1.0 1.59905 abnormality of connective tissue HPO Gene-Disease Associations 1.0 null IRF3 ENCODE Transcription Factor Targets 1.0 null leber congenital amaurosis DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.548971 abnormality of immune system physiology HPO Gene-Disease Associations 1.0 null tonsil HPA Tissue Protein Expression Profiles -1.0 -0.772898 GSE200320_3_v_2_mfge8_mouse RummaGEO Gene Perturbation Signatures 1.0 null GTEX-XOT4-0005-SM-4B64S GTEx Tissue Sample Gene Expression Profiles -1.0 -1.39072 posteroventral (inferior) parietal cortex_3 yrs_F_12836 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -0.917859 BRD-K67868012_PI-103_BT20_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null ZBTB33_HCT116_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null eGFP-JUND_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null muscle GTEx Tissue Gene Expression Profiles -1.0 -1.1761 YJEFN3 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.83007 BRD-K49328571_dasatinib_HCC515_24_h_0.37_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K91796483 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.35817 r3 part of lateral pontine nuclei Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.43594 H3K4me1_megakaryocyte_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null BRD-A19037878_trichostatin A_HT29_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-90-A4ED-01A-31R-A24Z-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Pheochromocytoma and Paraganglioma_PCPG_TCGA-W2-A7HF-01A-11R-A35L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CTCF_fibroblast of foreskin _hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Lung adenocarcinoma_LUAD_TCGA-78-7156-01A-11R-2039-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Olanzapine DeepCoverMOA Drug Mechanisms of Action -1.0 -0.25 seminal vesicle HPA Tissue Protein Expression Profiles -1.0 -0.772898 Caroli syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.483 GTF2F1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null trichostatin A-3643 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K03449891_foretinib_HT29_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-PWO3-0005-SM-2I5FS GTEx Tissue Sample Gene Expression Profiles -1.0 -1.45284 BRD-K54837058 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.17861 GSE236003_2_v_3_ubr5_human RummaGEO Gene Perturbation Signatures -1.0 null ZBTB33_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null ZNF143_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE159678_6_v_3_chloroquine_human RummaGEO Drug Perturbation Signatures -1.0 null JD-44-KF86_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.286073 Lung squamous cell carcinoma_LUSC_TCGA-56-7582-11A-01R-2045-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CHD1-19587682-MESCS-MOUSE ChEA Transcription Factor Targets 2022 1.0 null ATF2_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_astrocyte of the cerebellum_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BCLAF1 ENCODE Transcription Factor Targets 1.0 null medial amygdala, anteroventral part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 3.22976 HCC1419 Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles 1.0 0.726678 TP53 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 28.6799 FOXP2_SK-N-MC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Palate TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.484 Perturb_16698_KO_83F24Rik_ERP017365 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations 1.0 6.83409 monogenic disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.60225 KARPAS-1106P Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null POLR2A_GM19099_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null HCC1143 Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles -1.0 -1.30816 BRD-K03829970_-666_VCAP_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K01910220 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.20392 fastigial nucleus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.0457 H3K4me3_GM12864_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null abnormal jaw morphology MPO Gene-Phenotype Associations 1.0 null Bag cell neuron TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.671 hsa-miR-4715-3p TargetScan Predicted Nonconserved microRNA Targets 1.0 1.55165 Prostate adenocarcinoma_PRAD_TCGA-G9-6362-01A-11R-1789-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null tretinoin_homo sapiens_gpl6244_gds4180 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Nephronophthisis ClinVar Gene-Phenotype Associations 2025 1.0 null mutated GeneRIF Biological Term Annotations 1.0 null r6 part of ventral gigangocellular reticular area Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.9339 Ciliary plasm COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.764 Rectum adenocarcinoma_READ_TCGA-F5-6812-01A-11R-1830-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null NCI-H322M COSMIC Cell Line Gene Mutation Profiles 1.0 null NCIH1781 CCLE Cell Line Gene Expression Profiles -1.0 -2.12901 Pancreatic adenocarcinoma_PAAD_TCGA-3A-A9IR-01A-11R-A38C-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PMC9529122-pone.0274785.s002.xlsx-S1_Table-S1A_Table_Differentially_expressed_genes_in_HeyA8_overexpressin_ZNF521_vs_HeyA8_control_cells_ZNF521 Rummagene Transcription Factor Associations 2026 1.0 null H3K4me3_endothelial cell of umbilical vein_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null LF-94-HB11_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.233463 Visceral heterotaxy DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.139 Blood Coagulation Disorders CTD Gene-Disease Associations 1.0 1.05015 A549_JNJ-7706621_10nM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.0146533 trichostatin A-2881 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K27ac_placenta_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null CHD2_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null HCC2998 DepMap CRISPR Gene Dependency 1.0 3.91677 GSE184892_4_v_2_trehalose_human RummaGEO Drug Perturbation Signatures -1.0 null PGR JASPAR Predicted Human Transcription Factor Targets 2025 1.0 17.7553 GSE89767_1_v_5_cebpa_mouse RummaGEO Gene Perturbation Signatures 1.0 null Katanin complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.986 HCC1954 DepMap CRISPR Gene Dependency 1.0 2.41424 H2AFZ_fibroblast of dermis_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null posteroventral (inferior) parietal cortex_2 yrs_F_12979 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.17066 membrane-bounded organelle COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 CTCF_HepG2_hg19_6 ENCODE Transcription Factor Binding Site Profiles 1.0 null MAX_MCF-7_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null organelle part GO Cellular Component Annotations 2015 1.0 null Choroidal sclerosis DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.185 GTEX-X5EB-0726-SM-46MVR GTEx Tissue Sample Gene Expression Profiles 1.0 0.850391 BRD-K57357721 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.25274 SNB75 COSMIC Cell Line Gene Mutation Profiles 1.0 null CRCGN015_HEPG2_48H:P19 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.84334 AR ChEA Transcription Factor Targets 1.0 null H3K4me3_fibroblast of mammary gland_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null FOS_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null plasma membrane bounded cell projection assembly GO Biological Process Annotations 2023 1.0 null Polycystic liver disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.1 abnormality of the sternum HPO Gene-Disease Associations 1.0 null BRD-K84235037 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.40654 BRD-K57282030_JW-7-24-1_HME1_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null aplasia/hypoplasia of the distal phalanges of the hand HPO Gene-Disease Associations 1.0 null ZNF143_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null stratum radiatum of caudal CA1 Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.847019 BRD-K02130563_S1030_MCF7_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Organelle biogenesis and maintenance Reactome Pathways 2024 1.0 null ZR75B Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles 1.0 0.999949 posterior (caudal) superior temporal cortex (area 22c)_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.44984 PMC6196654__F1 PFOCR Pathway Figure Associations 2024 1.0 null Signal recognition particle COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.231 H3K4me2_HeLa-S3_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Ellis-Van Creveld syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.476 PMC6904118-NIHMS1544763-supplement-5.xlsx-MYB_Individual-MYB_sgRNA-2_MYB Rummagene Transcription Factor Associations 2026 1.0 null TCCPAN2_PANCREAS CCLE Cell Line Proteomics 1.0 2.93215 CTCF_fibroblast of the aortic adventitia_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null ER to Golgi transport vesicle membrane COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.857 ZNF680 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 28.9277 Distal dendrite COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.642 globus pallidus, internal segment, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.05123 Lung squamous cell carcinoma_LUSC_TCGA-92-7340-11A-01R-2045-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null TAL1 ChEA Transcription Factor Targets 1.0 null hsa-miR-3664-3p TargetScan Predicted Conserved microRNA Targets 1.0 0.828473 BRD-K12867552_-666_MCF7_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null FAM156B CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 4.59013 PHOX2B-30127528-KELLY-HUMAN-BRAINNEUROBLASTOMA ChEA Transcription Factor Targets 2022 1.0 null trichostatin A-6064 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormality of the liver HPO Gene-Disease Associations 1.0 null Monogenic disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 hsa-miR-371-3p TargetScan Predicted Nonconserved microRNA Targets 1.0 1.20993 Penis_Foreskin_Keratinocyte_Primary_Cells_skin02 Roadmap Epigenomics Cell and Tissue Gene Expression Profiles -1.0 -0.924103 mantle zone of r3Tr Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.1878 ZNHIT6 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.12621 GSE154350_1_v_0_ascl2_human RummaGEO Gene Perturbation Signatures -1.0 null Leber congenital amaurosis DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 SETDB1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Photoreceptor connecting cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.174 Head and Neck squamous cell carcinoma_HNSC_TCGA-CR-5250-01A-01R-1514-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-X3Y1-2426-SM-3P5Z7 GTEx Tissue Sample Gene Expression Profiles 1.0 0.94438 reduced number of teeth HPO Gene-Disease Associations 1.0 null fallopian tube HPA Tissue Gene Expression Profiles 1.0 1.00637 Procentriole COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.622 GTEX-QVUS-0006-SM-3GAE8 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.37734 due GeneRIF Biological Term Annotations 1.0 null Alzheimer's Disease_CNS - Brain - Hippocampus (MMHCC)_GSE1297 GEO Signatures of Differentially Expressed Genes for Diseases -1.0 -1.76973 Axonemal dynein complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.186 Skin Cutaneous Melanoma_SKCM_TCGA-D3-A3CE-06A-11R-A18S-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Melanosis CTD Gene-Disease Associations 1.0 1.05052 BHLHE40 ENCODE Transcription Factor Targets 1.0 null GTEX-NPJ7-2926-SM-3MJGQ GTEx Tissue Sample Gene Expression Profiles 1.0 1.43357 GSE152441,GSE152442_7_v_4_folic acid_human RummaGEO Drug Perturbation Signatures 1.0 null organelle assembly GO Biological Process Annotations 2025 1.0 null abnormal limb development MPO Gene-Phenotype Associations 1.0 null HUG1N CCLE Cell Line Gene CNV Profiles -1.0 -2.99043 Metaphyseal dysplasia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.03 ETV2::FOXI1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 27.0301 BRD-K57937572 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.40359 BRD-K08899466 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.06316 NELFE_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE239898,GSE239899_1_v_0_hiltonol_human RummaGEO Drug Perturbation Signatures -1.0 null RL Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null GTEX-XUJ4-1526-SM-4BONU GTEx Tissue Sample Gene Expression Profiles 1.0 0.917365 PMC4595011-pgen.1005555.s001.xlsx-MITF_UP-regulated-Gene_name_MITF Rummagene Transcription Factor Associations 2026 1.0 null Renal tubular transport disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.134 supragenual nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.48945 GATA2_G1E-ER4_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Oligohydramnios DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.196 D-245MG COSMIC Cell Line Gene Mutation Profiles 1.0 null lateral group of nuclei, right, dorsal division Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.94843 GTEX-S7PM-0006-SM-3NM8C GTEx Tissue Sample Gene Expression Profiles -1.0 -1.18374 GSE236280_0_v_1_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null STAT3 ENCODE Transcription Factor Targets 1.0 null A_CA_04_2009_4dayMOI-10^3_None_GSE37569 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 1.68201 GSE247775_1_v_0_tmprss2_mouse RummaGEO Gene Perturbation Signatures 1.0 null POLR2AphosphoS5_PFSK-1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null SIN3A_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null trichostatin A-6910 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_G1E-ER4_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null CRCGN014_HEPG2_24H:M15 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.96772 PMC11447041-41598_2024_74391_MOESM4_ESM.xlsx-B_ATF4-def_Tg_2_vs_DMSO_2-Supplementary_Table_4B_DEGs_in_ATF4-def_cells_comparing_Tg_2h_to_its_DMSO_control_ATF4 Rummagene Transcription Factor Associations 2026 1.0 null CRCGN015_MCF10A_48H:F02 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.3765 BRD-A18328003_GDC-0980_PC3_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CTCF_B cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-OIZG-1326-SM-2HMIQ GTEx Tissue Sample Gene Expression Profiles -1.0 -1.04898 Kidney renal papillary cell carcinoma_KIRP_TCGA-Y8-A894-01A-11R-A36F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K79me2_fibroblast of dermis_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null trichostatin A-7179 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K88344082 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.01066 CRCGN016_MCF10A.WT.HP_24H:E20 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.98827 MXI1_SK-N-SH_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null PMC9232687-13238_2021_887_MOESM3_ESM.xlsx-37_KD_sgCDC20_vs_sgNTC-Differentially_expressed_genes_DEGs_upon_CDC20_knockdown_under_37_culture_AR Rummagene Transcription Factor Associations 2026 1.0 null hsa-miR-335-5p MiRTarBase microRNA Targets 1.0 null IRF5 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 24.1088 H3K27ac_CD8 Naive Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GSE198165,GSE198166_0_v_4_zfp266_mouse RummaGEO Gene Perturbation Signatures 1.0 null H3K4me1_Adipose Nuclei Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GSE158632_2_v_0_oxyquinoline_human RummaGEO Drug Perturbation Signatures 1.0 null H3K27ac_astrocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null hydrastinine-1436 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null abnormality of lower lip HPO Gene-Disease Associations 1.0 null cochlear nuclei Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.19943 aplasia/hypoplasia involving bones of the upper limbs HPO Gene-Disease Associations 1.0 null FOXP2 ENCODE Transcription Factor Targets 1.0 null HN Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.32732 A-Vietnam-1203_CIP048_RG3-2004(H5N1)PB1-F2del_2day-MOI-10^4_None_GSE44441 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 1.91587 finger syndactyly HPO Gene-Disease Associations 1.0 null LY-294002-1236 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null ELF1_HCT116_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2AphosphoS5_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-U3ZN-1026-SM-4DXTC GTEx Tissue Sample Gene Expression Profiles 1.0 0.902426 BRD-K80212510 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.59769 trichostatin A-6193 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-RU1J-0226-SM-2TF5Y GTEx Tissue Sample Gene Expression Profiles 1.0 0.985628 Cognition Disorders CTD Gene-Disease Associations 1.0 1.02522 Bladder Urothelial Carcinoma_BLCA_TCGA-CF-A8HX-01A-11R-A36F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null posterior (caudal) superior temporal cortex (area 22c)_8 yrs_M_12981 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.37986 CAMA-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.12345 SNU761 CCLE Cell Line Gene Expression Profiles 1.0 1.79691 H3K4me3_Bone Marrow Derived Mesenchymal Stem Cell Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null hsa-miR-590-3p TargetScan Predicted Conserved microRNA Targets 1.0 0.997906 CTCF_HeLa-S3_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null SLC9A4 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00425558 ZNF766 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 32.8452 skeletal system morphogenesis GO Biological Process Annotations 2015 1.0 null GSE148695,GSE167281_2_v_1_satb2_mouse RummaGEO Gene Perturbation Signatures -1.0 null KA-51-CQ55_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.249757 CTCF_fibroblast of mammary gland_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE166536_3_v_2_docetaxel_mouse RummaGEO Drug Perturbation Signatures -1.0 null Vascular Diseases CTD Gene-Disease Associations 1.0 1.2279 CTCF_A549_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null pirenzepine-1388 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null bupivacaine-5537 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE182680,GSE182683_5_v_3_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K03449891_foretinib_HCC515_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Musculoskeletal system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.864 GTEX-SNOS-0226-SM-32PLR GTEx Tissue Sample Gene Expression Profiles 1.0 1.22539 USF2 ENCODE Transcription Factor Targets 1.0 null H3K4me3_spleen_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null BA-68-FJ41_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.212534 H3K4me3_ES-E14_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null GSE139455_4_v_5_stat3_human RummaGEO Gene Perturbation Signatures 1.0 null GSE118548_1_v_0_trametinib_human RummaGEO Drug Perturbation Signatures 1.0 null GTEX-O5YV-0006-SM-2I5GX GTEx Tissue Sample Gene Expression Profiles -1.0 -0.962562 GTEX-X261-3226-SM-3NMC3 GTEx Tissue Sample Gene Expression Profiles 1.0 1.22523 HCC1937 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.47464 GTEX-PWCY-1426-SM-48TCT GTEx Tissue Sample Gene Expression Profiles 1.0 1.34273 GTEX-WHWD-0005-SM-3LK7D GTEx Tissue Sample Gene Expression Profiles -1.0 -1.0021 fallopiantube_8c HPA Tissue Sample Gene Expression Profiles 1.0 1.63341 HCC2218 CCLE Cell Line Gene Expression Profiles -1.0 -1.67586 GSE169356_0_v_1_ivermectin_human RummaGEO Drug Perturbation Signatures 1.0 null abnormality of lower limb bone HPO Gene-Disease Associations 1.0 null Intraciliary transport particle COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 5.0 naltrexone-1363 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null 496100643_TCx_no dementia_no TBI_90-94_F Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles 1.0 2.03377 SW900 CCLE Cell Line Gene CNV Profiles 1.0 1.86963 TBP_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null VIIIB, left, lateral hemisphere Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.947801 TAF1_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormality of the abdominal wall HPO Gene-Disease Associations 1.0 null Ciliary transition zone COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 4.0 cilium organization GO Biological Process Annotations 2023 1.0 null abnormality of molar HPO Gene-Disease Associations 1.0 null TFAP2C_01_53 KnockTF Gene Expression Profiles with Transcription Factor Perturbations -1.0 -0.77043 short face MGI Mouse Phenotype Associations 2023 1.0 null H3K4me1_G1E-ER4_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null Sarcoma_SARC_TCGA-DX-A48N-01A-11R-A30C-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null genistein-6952 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE147366_3_v_2_med13_human RummaGEO Gene Perturbation Signatures 1.0 null SP1_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null VZ in dorsomedial frontal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.0695 GTEX-RNOR-0926-SM-2TF56 GTEx Tissue Sample Gene Expression Profiles 1.0 1.08222 amygdaloid complex_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 2.19981 Carcinoma, Hepatocellular CTD Gene-Disease Associations 1.0 1.46041 SHPRH CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.25085 GTEX-PX3G-0006-SM-33HBQ GTEx Tissue Sample Gene Expression Profiles -1.0 -0.882913 CRCGN015_MCF10A.TP53.M_24H:P16 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.1841 BRD-K68174511_torin-2_HA1E_24_h_1.11_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null SETD5 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.00875 Osteogenesis imperfecta type 9 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.386 KYSE-450 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.07044 GSE102187_0_v_1_vorinostat_human RummaGEO Drug Perturbation Signatures 1.0 null GSE143662_0_v_1_dcp2_human RummaGEO Gene Perturbation Signatures -1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-FS-A1ZM-06A-12R-A18S-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Fundus albipunctatus DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.132 ZNF384 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 166.14 Cranioectodermal dysplasia DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 5.0 EIF4G1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00574737 CRCGN016_MCF10A.TP53.M_24H:E21 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.02177 H3K4me3_Stomach Smooth Muscle Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Oculocerebrorenal syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.085 abnormality of refraction HPO Gene-Disease Associations 1.0 null occipital pole, left, superior aspect Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.832463 GTEX-N7MT-0726-SM-3TW8S GTEx Tissue Sample Gene Expression Profiles 1.0 1.07652 GTEX-XBED-0926-SM-48TCE GTEx Tissue Sample Gene Expression Profiles 1.0 1.03927 TP53-22573176-HFKS-HUMAN ChEA Transcription Factor Targets 2022 1.0 null MZ in rostral entorhinal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.96185 GTEX-PSDG-0005-SM-3GADC GTEx Tissue Sample Gene Expression Profiles -1.0 -1.14441 BRD-K51398207 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.75018 mammalian phenotype MPO Gene-Phenotype Associations 1.0 null BRD-K03675705 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.38664 GTEX-QLQ7-0005-SM-2S1QP GTEx Tissue Sample Gene Expression Profiles -1.0 -1.17893 NCI-N87 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.32398 organelle COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.242797 GSE182680,GSE182683_7_v_2_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null Primary ciliary dyskinesia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.877 MZ in posteror frontal cortex (motor cortex) Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.894423 rnf2_20805357_u2os_osteosarcoma_lof_human_gpl570_gse23035 GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations 1.0 0.582798 GTEX-U8T8-2326-SM-3DB96 GTEx Tissue Sample Gene Expression Profiles 1.0 1.14989 non-motile cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.102 PrefrontalCortex BioGPS Human Cell Type and Tissue Gene Expression Profiles 1.0 1.17599 tamoxifen-6768 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-WEY5-0006-SM-3GIKG GTEx Tissue Sample Gene Expression Profiles -1.0 -1.50649 GSE217452_3_v_0_docetaxel_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-U33728988_-666_SKB_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE191015_0_v_3_gsdmb_human RummaGEO Gene Perturbation Signatures -1.0 null H3K4me3_fibroblast of pulmonary artery_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Frontal Bossing DisGeNET Gene-Disease Associations 1.0 null H3K9ac_Mesenchymal Stem Cell Derived Adipocyte Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null abnormal cilium morphology MGI Mouse Phenotype Associations 2023 1.0 null Orofaciodigital syndrome I DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.265 PMC12048643-44318_2025_409_MOESM3_ESM.xlsx-regulonTargets-FOXP1_FOXP1 Rummagene Transcription Factor Associations 2026 1.0 null abnormality of limbs HPO Gene-Disease Associations 1.0 null SMCR8 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.63812 HCC1359 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null anterior (rostral) cingulate (medial prefrontal) cortex_36 yrs_M_12302 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.20678 BRD-K07164317 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.02699 trichostatin A-7005 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GATA2_G1E-ER4_mm9_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null Perturb_6061_KD_RBMX_SRP271175 PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 -9.03331 estradiol-5318 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE233679_6_v_10_nicotinamide_human RummaGEO Drug Perturbation Signatures 1.0 null FOS ENCODE Transcription Factor Targets 1.0 null cytoskeleton COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.098109 BRD-K52911425_GDC-0941_BT20_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null trichostatin A-1072 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null NCIH23_LUNG CCLE Cell Line Proteomics 1.0 2.08849 SARS-ddORF6_72Hour_23935999_GSE47961 GEO Signatures of Differentially Expressed Genes for Viral Infections -1.0 -1.78306 Lung squamous cell carcinoma_LUSC_TCGA-22-A5C4-01A-12R-A27Q-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K4me1_HepG2_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Anteroventral periventricular nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.10725 H3K4me3_BE2C_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null androgenic GeneRIF Biological Term Annotations 1.0 null macromolecular complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.242437 GTEX-XPT6-0006-SM-4B66Q GTEx Tissue Sample Gene Expression Profiles -1.0 -1.92281 GTEX-TMMY-0526-SM-33HBC GTEx Tissue Sample Gene Expression Profiles 1.0 1.30985 BRD-K87926172 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.26514 Sense organ TISSUES Curated Tissue Protein Expression Evidence Scores 2025 1.0 4.0 feeding difficulties HPO Gene-Disease Associations 1.0 null GSE158834_10_v_5_palmitic acid_human RummaGEO Drug Perturbation Signatures -1.0 null Lung squamous cell carcinoma_LUSC_TCGA-34-5927-01A-11R-1820-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-WRHU-0926-SM-4E3IG GTEx Tissue Sample Gene Expression Profiles 1.0 1.03634 CW-2 COSMIC Cell Line Gene Mutation Profiles 1.0 null Brain Lower Grade Glioma_LGG_TCGA-DU-7013-01A-11R-2027-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K20203758 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.33259 H3K4me1_Mobilized CD34 Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null cellular component assembly GO Biological Process Annotations 2023 1.0 null nucleus coeruleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.25727 roxarsone-5470 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CRCGN017_MCF10A.TP53.M_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 6.53578 TA-34-CK62_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.28455 abnormal sternum ossification MGI Mouse Phenotype Associations 2023 1.0 null Intraflagellar transport Reactome Pathways 2024 1.0 null CREB1_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE221327_8_v_0_clpp_human RummaGEO Gene Perturbation Signatures 1.0 null abnormal renal morphology HPO Gene-Disease Associations 1.0 null caudal division of IPC (area 39) Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.839936 Ulnar Polydactyly Of Fingers DisGeNET Gene-Disease Associations 1.0 null octopamine-5469 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null retinitis pigmentosa DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 1.07278 0175029-0000-4716 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null H3K4me3_fibroblast of lung_hg19_7 ENCODE Histone Modification Site Profiles 1.0 null Clinodactyly DisGeNET Gene-Disease Associations 1.0 null GSE133087_1_v_0_metformin_human RummaGEO Drug Perturbation Signatures 1.0 null HDAC1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormality of joint mobility HPO Gene-Disease Associations 1.0 null SUM 149PT Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.04025 H3K4me3_Mobilized CD34 Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null cellular_component LOCATE Predicted Protein Localization Annotations 1.0 null Bone development disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 5.0 BRD-K60052521 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.1976 single-organism localization GO Biological Process Annotations 2015 1.0 null mild proteinuria HPO Gene-Disease Associations 1.0 null MAX_A549_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me1_lung_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null Senior-Loken syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.614 u2197 HPA Cell Line Gene Expression Profiles 1.0 0.854658 CTCF_fibroblast of mammary gland_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null hsa-miR-520d-5p TargetScan Predicted Nonconserved microRNA Targets 1.0 1.07142 KA-29-AB08_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.213551 Lung adenocarcinoma_LUAD_TCGA-44-6148-01A-11R-1755-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PMC10661700-41525_2023_383_MOESM2_ESM.xlsx-Supp_Table4_gnomAD_EAS_GCR-SYMBOL_NR3C1 Rummagene Transcription Factor Associations 2026 1.0 null PMC9290241-13058_2022_1547_MOESM2_ESM.xlsx-Foglio1-Supplementary_Table_S1_Differentially_expressed_transcripts_in_common_between_EPZ-_and_MI-2-treated_MCF-7_cells_MITF Rummagene Transcription Factor Associations 2026 1.0 null K562_Celecoxib_100nM_24h Sci-Plex Drug Perturbation Signatures -1.0 -0.0150785 H3K4me1_CD8 Memory Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null ATG2A CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.47118 striatum_15 yrs_M_12299 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.10484 CTCF_WERI-Rb-1_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K76508844 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.20447 Kidney renal clear cell carcinoma_KIRC_TCGA-AK-3436-01A-02R-1325-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null Pituitary BioGPS Human Cell Type and Tissue Gene Expression Profiles 1.0 1.13653 NFYA ENCODE Transcription Factor Targets 1.0 null BRD-K36740062_HY-70044_VCAP_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null trichostatin A-3462 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormality of metabolism/homeostasis HPO Gene-Disease Associations 1.0 null Diastrophic Dysplasia DisGeNET Gene-Disease Associations 1.0 null r5 part of the cochlear column Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.40472 CREM-20920259-GC1-SPG-MOUSE ChEA Transcription Factor Targets 2022 1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-EE-A3JA-06A-11R-A20F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-TSE9-0626-SM-3DB8B GTEx Tissue Sample Gene Expression Profiles 1.0 2.88334 Brain TISSUES Curated Tissue Protein Expression Evidence Scores 2025 1.0 4.0 CEBPB-20176806-THIOMACROPHAGE-MOUSE ChEA Transcription Factor Targets 2022 1.0 null PMC7181646-41523_2020_157_MOESM4_ESM.xlsx-BCL9-STAT3_targets_DEG_Control-GeneName_STAT3 Rummagene Transcription Factor Associations 2026 1.0 null Liver hepatocellular carcinoma_LIHC_TCGA-XR-A8TG-01A-11R-A36F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Cranioectodermal dysplasia 4 ClinVar Gene-Phenotype Associations 1.0 null U2904 DepMap CRISPR Gene Dependency 1.0 4.60466 LY-294002-1077 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null 15897907-SuppTable2 GeneSigDB Published Gene Signatures 1.0 null orbital frontal cortex_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.47406 GSE149901_2_v_0_anlotinib_human RummaGEO Drug Perturbation Signatures -1.0 null PMC8020666-pnas.2015855118.sd05.xlsx-LPS_4_AAM-Hg_gene_id_IRF6 Rummagene Transcription Factor Associations 2026 1.0 null RCM-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.920161 Calvarial doughnut lesions with bone fragility DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.098 abnormality of epiphysis morphology HPO Gene-Disease Associations 1.0 null GATA2 ENCODE Transcription Factor Targets 1.0 null H3K4me3_Adult Liver Roadmap Epigenomics Histone Modification Site Profiles 1.0 null IPC-298 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null Kidney renal papillary cell carcinoma_KIRP_TCGA-AL-3467-01A-02R-1351-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null TAF1_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-XUZC-2126-SM-4BRW8 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.877768 abnormal limb morphology MPO Gene-Phenotype Associations 1.0 null H3K4me3_CH12.LX_mm9_4 ENCODE Histone Modification Site Profiles 1.0 null GSE233679_12_v_10_nicotinamide_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K52522949_-666_VCAP_6.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormal eye morphology MPO Gene-Phenotype Associations 1.0 null CTCF_osteoblast_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null protein localization to cilium GO Biological Process Annotations 2023 1.0 null amygdaloid complex_2 yrs_F_12979 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -0.944259 GTEX-WFG7-2426-SM-3GIL2 GTEx Tissue Sample Gene Expression Profiles 1.0 0.882481 abnormality of the skeletal system HPO Gene-Disease Associations 1.0 null GSE226259_0_v_1_scd2_mouse RummaGEO Gene Perturbation Signatures 1.0 null Perturb_7791_KD_EIF4A3_SRP049611 PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 -1.68865 prostate GeneRIF Biological Term Annotations 1.0 null BRD-K23670243 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.42009 BRD-K65828139 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.00403 GTEX-T6MN-0011-R11A-SM-32QOX GTEx Tissue Sample Gene Expression Profiles 1.0 0.963448 r8 part of the paragigantocellular nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.45408 BRD-K28349636 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.02745 GTEX-UTHO-0006-SM-3NMCC GTEx Tissue Sample Gene Expression Profiles -1.0 -1.27712 aplasia/hypoplasia of the lungs HPO Gene-Disease Associations 1.0 null H3K27me3_CD14-positive monocyte_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BE-31-XV38_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.283755 posterior part of anterior hypothalamic nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.01945 Prestwick-981-7464 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null striatum_37 yrs_M_12303 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.10178 axoneme part COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 GSE175787_4_v_2_rhoc_human RummaGEO Gene Perturbation Signatures -1.0 null HNF1A JASPAR Predicted Human Transcription Factor Targets 2025 1.0 32.5499 extracellular region part COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.045853 SW1990 DepMap CRISPR Gene Dependency 1.0 4.08365 pcgf2_17452456_medulloblastoma_lof_human_gpl570_gds2724 GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations -1.0 -0.333553 MAPK8 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00571861 BA-84-WN26_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.33317 motile cilium GO Cellular Component Annotations 2025 1.0 null H3K4me1_erythroblast_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null rostral periolivary nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.15912 Autosomal Recessive Retinitis Pigmentosa DisGeNET Gene-Disease Associations 1.0 null GTEX-XMD1-2826-SM-4AT5F GTEx Tissue Sample Gene Expression Profiles 1.0 1.15326 H3K4me3_SK-N-SH_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Ataxia DisGeNET Gene-Phenotype Associations 1.0 null CTCF_fibroblast of the aortic adventitia_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null RUNX3_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null disopyramide-7439 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CREB1_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-DV-A4W0-05A-11R-A266-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null POLR2A_GM12892_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-TSE9-2226-SM-4DXUR GTEx Tissue Sample Gene Expression Profiles 1.0 1.22948 broad phalanx HPO Gene-Disease Associations 1.0 null POLR2A_MCF-7_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE236437_0_v_3_aldosterone_human RummaGEO Drug Perturbation Signatures -1.0 null eGFP-FOS_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Prostate adenocarcinoma_PRAD_TCGA-EJ-7784-01A-11R-2118-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null organelle organization GO Biological Process Annotations 2015 1.0 null BRD-A00776891 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.48356 Renal medulla cell line TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.048 anteroventral periventricular preoptic nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.5554 BRD-K35616138 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.42143 FB-66-UU47_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.231845 NR2F2_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE169356_0_v_3_ivermectin_human RummaGEO Drug Perturbation Signatures 1.0 null KPNYN DepMap CRISPR Gene Dependency 1.0 2.62727 Pheochromocytoma and Paraganglioma_PCPG_TCGA-WB-A81E-01A-11R-A35L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Prestwick-860-5679 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null trichostatin A-6085 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null short iliac bones HPO Gene-Disease Associations 1.0 null ventrolateral prefrontal cortex_4 mos_M_12296 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.43701 SK-MEL-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.14466 BRD-K17743125_belinostat_A549_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-RTLS-2326-SM-46MUH GTEx Tissue Sample Gene Expression Profiles 1.0 1.45537 short toe HPO Gene-Disease Associations 1.0 null TCF4-22108803-LS180-HUMAN ChEA Transcription Factor Targets 2022 1.0 null Crohn Disease DisGeNET Gene-Disease Associations 1.0 null H3K27me3_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE210101,GSE210114_1_v_3_urod_human RummaGEO Gene Perturbation Signatures 1.0 null neurological system process GO Biological Process Annotations 2015 1.0 null arcuate nucleus of the hypothalamus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.916732 primary visual cortex (striate cortex, area V1/17)_37 yrs_M_12303 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.28354 NCI-H2081 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.973947 PMC9170563-12885_2022_9665_MOESM3_ESM.docx-0-Candidata_target_genes_of_CEBPB_2_CEBPB Rummagene Transcription Factor Associations 2026 1.0 null GTEX-S4Z8-0006-SM-3K2AQ GTEx Tissue Sample Gene Expression Profiles -1.0 -1.24788 BRD-K45044525 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.03341 EVX2 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 13.819 IMCD cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.059 20035825-TableS5a GeneSigDB Published Gene Signatures 1.0 null HOP92 BioGPS Cell Line Gene Expression Profiles 1.0 1.0535 MTA3_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Medullary collecting duct TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.845 H3K4me3_HepG2_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null MG-63 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.921048 Liver hepatocellular carcinoma_LIHC_TCGA-BC-A3KG-01A-11R-A213-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Urinary Bladder Neoplasms CTD Gene-Disease Associations 1.0 1.05349 GTEX-OHPM-2626-SM-33HC5 GTEx Tissue Sample Gene Expression Profiles 1.0 1.08871 superficial stratum of r6BL Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.26158 Infralimbic area, layer 6a Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.00667 POLR2A_A549_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null nervous system phenotype MPO Gene-Phenotype Associations 1.0 null GSE247764_4_v_2_nell2_mouse RummaGEO Gene Perturbation Signatures 1.0 null ZNF768 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 32.5864 EP300_GM12878_hg19_5 ENCODE Transcription Factor Binding Site Profiles 1.0 null KAT2B_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Perturb_1402_KO_HDAC7_SRP402694 PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 -5.02972 Sarcoma_SARC_TCGA-IF-A3RQ-01A-11R-A22K-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K4me3_BE2C_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_A549_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null CRCGN017_MCF10A.WT.HP_24H:C22 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 5.01225 Aplasia/Hypoplasia Of The Lungs DisGeNET Gene-Phenotype Associations 1.0 null BRD-K56776985 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.82371 DA-66-OE69_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.348865 BRD-K72194126 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.04268 r5 part of dorsal cochlear nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.35174 short digit HPO Gene-Disease Associations 1.0 null dexamethasone-1396 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Nephronophthisis 15 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.097 LRRC4 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.06725 GSE197555_0_v_2_trametinib_human RummaGEO Drug Perturbation Signatures 1.0 null PMC4595011-pgen.1005555.s002.xlsx-MITF_UP_in_30kb-Gene_name_MITF Rummagene Transcription Factor Associations 2026 1.0 null abnormal limb bud morphology MPO Gene-Phenotype Associations 1.0 null RAD21_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormal myotome development MGI Mouse Phenotype Associations 2023 1.0 null Weight Loss CTD Gene-Disease Associations 1.0 1.49019 BRD-K97569931 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.12127 superficial stratum of r9BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.80556 layer IIIu of area 35r Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.56996 Fibula TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.164 POLR2AphosphoS5_SK-N-MC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null RPP30 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 3.41146 Small Eyes DisGeNET Gene-Phenotype Associations 1.0 null JUN_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null ZNF45 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.47259 Kidney disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.026 retinitis GeneRIF Biological Term Annotations 1.0 null NR3C1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 25.5034 PD-70-VS77_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.294248 H3K27ac_H1 BMP4 Derived Mesendoderm Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null HMGN3_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE157960_0_v_3_progesterone_mouse RummaGEO Drug Perturbation Signatures -1.0 null GTEX-Q2AG-0005-SM-33HBX GTEx Tissue Sample Gene Expression Profiles -1.0 -1.72678 BRD-K27178862 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.70236 Muscle Hypotonia DisGeNET Gene-Phenotype Associations 1.0 null GTEX-OHPK-1626-SM-2YUN3 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.852227 sulindac-1815 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null NFYB ENCODE Transcription Factor Targets 1.0 null CTCF_MCF-7_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_cardiac fibroblast_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null oculomotor nucleus, Edinger-Westphal subnucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.40706 Seckel syndrome 7 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.193 SLK CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.72397 H3K4me2_H1 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null BRD-K00137579 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.50508 posteroventral (inferior) parietal cortex_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -2.38156 LY-294002-5233 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-T6MO-1126-SM-4DM5D GTEx Tissue Sample Gene Expression Profiles 1.0 1.20742 GTEX-NPJ8-2626-SM-2D7W2 GTEx Tissue Sample Gene Expression Profiles 1.0 0.84926 endometrium_4b HPA Tissue Sample Gene Expression Profiles 1.0 1.27176 abnormal limb paddle morphology MPO Gene-Phenotype Associations 1.0 null PDLIM2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.83479 BRD-K71563254 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.22054 KAT2B LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00415953 Prostate adenocarcinoma_PRAD_TCGA-G9-6369-01A-21R-1965-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null mediodorsal nucleus of thalamus_21 pcw_M_12886 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.21199 H3K4me1_CH12.LX_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-77-7138-11A-01R-2045-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null abnormality of the nares HPO Gene-Disease Associations 1.0 null H3K4me3_fibroblast of the aortic adventitia_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null metformin-61 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null polyphalangy MGI Mouse Phenotype Associations 2023 1.0 null r6 part of dorsal cochlear nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.46049 A-Vietnam-1203_CIP048_RG4-2004(H5N1)NS1trunc124_1day-MOI-10^4_None_GSE44445 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 1.94736 Pain CTD Gene-Disease Associations 1.0 1.07804 gigantocellular group, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.13065 GSE232631_5_v_3_brca2_mouse RummaGEO Gene Perturbation Signatures -1.0 null MDA-MB-157 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.919744 POLR2A_MEL cell line_mm9_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null MAX_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CEBPB_HepG2_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_CD4 Naive Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GTEX-PLZ4-0006-SM-2S1NY GTEx Tissue Sample Gene Expression Profiles -1.0 -0.975049 abnormal palatal shelf fusion at midline MGI Mouse Phenotype Associations 2023 1.0 null GTEX-WZTO-0006-SM-3NM9T GTEx Tissue Sample Gene Expression Profiles -1.0 -1.2453 Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-ZJ-A8QO-01A-11R-A37O-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Brain Lower Grade Glioma_LGG_TCGA-QH-A870-01A-11R-A36H-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null cell projection cytoplasm COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.478843 SNU-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null COPI-coated vesicle COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.0 intracellular membrane-bounded organelle COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.305515 BRD-K73452131 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.08328 ZC3H11A ENCODE Transcription Factor Targets 1.0 null rh30 HPA Cell Line Gene Expression Profiles 1.0 0.90959 CAOV-3 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.08749 COV413B Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.27538 COR-L47 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.21406 BTN3A1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00655717 GSE155305_2_v_0_ifitm3_mouse RummaGEO Gene Perturbation Signatures 1.0 null GSE118548_1_v_2_trametinib_human RummaGEO Drug Perturbation Signatures 1.0 null external part of AOD Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.12007 syndrome GeneRIF Biological Term Annotations 1.0 null small intestine HPA Tissue Protein Expression Profiles 1.0 1.06804 microtubule organizing center part COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.222436 PHF8 ENCODE Transcription Factor Targets 1.0 null BRD-K68174511_torin-2_HA1E_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE157592_1_v_0_tet2_mouse RummaGEO Gene Perturbation Signatures -1.0 null GSE244710_1_v_0_srsf1_human RummaGEO Gene Perturbation Signatures 1.0 null MAFF_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE148066,GSE157787_11_v_10_n4bp1_mouse RummaGEO Gene Perturbation Signatures -1.0 null ASB6 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.0675 bbsome COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.787817 H3K4me1_T-cell acute lymphoblastic leukemia_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Valgus Deformities Of Feet DisGeNET Gene-Disease Associations 1.0 null Signal Transduction Reactome Pathways 2014 1.0 null Mildronate DeepCoverMOA Drug Mechanisms of Action 1.0 0.22 BRD-K49473928 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.4938 NDUFA13 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00541071 mantle zone of DgSe Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.04049 CRCGN017_MCF10A.WT.HP_24H:H09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.2845 GSE158502,GSE158506_3_v_0_fat1_mouse RummaGEO Gene Perturbation Signatures 1.0 null BRD-K17514980 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.37245 lisinopril-5504 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null KDM1A ENCODE Transcription Factor Targets 1.0 null GTEX-V955-0005-SM-3P5ZC GTEx Tissue Sample Gene Expression Profiles -1.0 -1.66063 H3K4me1_CD34 Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null HEL9217 DepMap CRISPR Gene Dependency 1.0 4.37499 Skeletal Dysplasia DisGeNET Gene-Disease Associations 1.0 null GM1600 BioGPS Cell Line Gene Expression Profiles 1.0 0.833729 PMC4989457-13073_2016_339_MOESM3_ESM.xls-MITF_D1_vs_D10-hugo_id_MITF Rummagene Transcription Factor Associations 2026 1.0 null H3K4me3_endothelial cell of umbilical vein_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null PAX5_OE_GDS4978_548_human_L428-PAX5 GEO Signatures of Differentially Expressed Genes for Gene Perturbations 1.0 null BRD-K14868348 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.59799 MAF1_02_81 KnockTF Gene Expression Profiles with Transcription Factor Perturbations -1.0 -0.58552 Abnormality Of The Metaphysis DisGeNET Gene-Disease Associations 1.0 null Neural Tube Defects CTD Gene-Disease Associations 1.0 1.24401 H3K9ac_Pancreatic Islets Roadmap Epigenomics Histone Modification Site Profiles 1.0 null abnormal phalanx morphology MPO Gene-Phenotype Associations 1.0 null CRCGN012_HEPG2_24H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.50102 clomifene-2624 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null recessive GeneRIF Biological Term Annotations 1.0 null abnormal palatine bone morphology MGI Mouse Phenotype Associations 2023 1.0 null H3K4me3_erythroblast_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null POLR2A_bone marrow_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K49865102_PD-0325901_HT29_24_h_0.12_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE135352_0_v_1_napabucasin_human RummaGEO Drug Perturbation Signatures -1.0 null Body wall TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.524 RBBP5_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-OXRL-0005-SM-3LK6A GTEx Tissue Sample Gene Expression Profiles -1.0 -1.12072 reticular nucleus of thalamus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -0.935262 HDLM2 CCLE Cell Line Gene Expression Profiles -1.0 -2.22598 CTCF_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_BJ_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE165647_2_v_1_cry2_mouse RummaGEO Gene Perturbation Signatures 1.0 null RUNX1-30185409-HPC-MOUSE-BONEMARROW-LEUKEMIA ChEA Transcription Factor Targets 2022 1.0 null GTEX-OXRP-2326-SM-2S1NL GTEx Tissue Sample Gene Expression Profiles -1.0 -1.32454 GTEX-PX3G-2626-SM-2I3EG GTEx Tissue Sample Gene Expression Profiles 1.0 1.04124 EGR1 ENCODE Transcription Factor Targets 1.0 null GTEX-W5X1-0426-SM-3GILB GTEx Tissue Sample Gene Expression Profiles 1.0 1.66065 intracellular part LOCATE Predicted Protein Localization Annotations 1.0 null POLR2A_H1-hESC_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null Night blindness DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.703 hsa-miR-3125 TargetScan Predicted Conserved microRNA Targets 1.0 0.766596 BRD-K30492965 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.17251 YY1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Leber congenital amaurosis ClinVar Gene-Phenotype Associations 2025 1.0 null GTEX-U412-0006-SM-3DB8J GTEx Tissue Sample Gene Expression Profiles -1.0 -1.21296 CRCGN014_HEPG2_3H:L05 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.45623 MKN-45 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.37789 BRD-K37687095_AZD-8330_HT29_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null MYC_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null retrograde GeneRIF Biological Term Annotations 1.0 null abnormal myogenesis MPO Gene-Phenotype Associations 1.0 null Joubert syndrome with orofaciodigital defect DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.17 ciliary part COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.291417 DDAH2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00625314 CTCF_K562_hg19_5 ENCODE Transcription Factor Binding Site Profiles 1.0 null Congenital Hypoplasia Of Kidney DisGeNET Gene-Disease Associations 1.0 null GSE57871_1_v_2_vorinostat_human RummaGEO Drug Perturbation Signatures 1.0 null GTEX-U8T8-1426-SM-3DB9H GTEx Tissue Sample Gene Expression Profiles -1.0 -0.836758 Perturb_4554_KD_Mcrs1_SRP126769 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -2.06862 Liver hepatocellular carcinoma_LIHC_TCGA-DD-A1EA-01A-11R-A131-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-XXEK-0005-SM-4BRWJ GTEx Tissue Sample Gene Expression Profiles -1.0 -1.42323 BRD-K38791044 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.24652 GTEX-REY6-0005-SM-2TF54 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.28497 trichostatin A-5511 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CTCF_spleen_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Microtubule minus-end COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.513 H3K4me3_K562_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null POLR2AphosphoS5_GM12891_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Brain Lower Grade Glioma_LGG_TCGA-E1-A7YL-01A-11R-A34F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GSE142210_9_v_6_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null nomifensine-1378 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null absent tibia MGI Mouse Phenotype Associations 2023 1.0 null GTEX-Y8E5-0006-SM-47JWQ GTEx Tissue Sample Gene Expression Profiles -1.0 -1.66882 H3K4me3_CD4 Memory Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null canrenoic acid-2065 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null POLR2AphosphoS5_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null sulfaphenazole-5507 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE76425_0_v_5_lenalidomide_human RummaGEO Drug Perturbation Signatures 1.0 null KARPAS422 CCLE Cell Line Gene Expression Profiles 1.0 2.37046 Bardet-Biedl syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.634 dorsolateral prefrontal cortex_3 yrs_M_12980 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -0.947476 CRCGN011_HEPG2_24H:I24 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.46785 CTCF_GM12865_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null Congenital Pectus Excavatum DisGeNET Gene-Disease Associations 1.0 null GSE114690_1_v_0_tnfsf14_mouse RummaGEO Gene Perturbation Signatures 1.0 null GSE159678_4_v_7_chloroquine_human RummaGEO Drug Perturbation Signatures -1.0 null PMC11511846-42003_2024_7078_MOESM3_ESM.xlsx-ST18-Unnamed_19_ST18 Rummagene Transcription Factor Associations 2026 1.0 null Subiculum, dorsal part, pyramidal layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.34797 C2BBE1 CCLE Cell Line Gene Expression Profiles -1.0 -1.54742 BRD-K89638177 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.36203 BL7051 (RELA) NURSA Protein Complexes 1.0 null GSE210101,GSE210114_6_v_3_urod_human RummaGEO Gene Perturbation Signatures 1.0 null amygdaloid complex_3 yrs_F_12836 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.09409 abnormal palatine bone morphology MPO Gene-Phenotype Associations 1.0 null pallidal islands of Calleja Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.37617 salivary gland HPA Tissue Protein Expression Profiles 1.0 1.06804 GTEX-P4QS-1726-SM-3NB1V GTEx Tissue Sample Gene Expression Profiles 1.0 1.28181 DPF1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.30039 abnormal tympanic ring morphology MGI Mouse Phenotype Associations 2023 1.0 null alpha-estradiol-762 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null PMC9338531-13046_2022_2445_MOESM18_ESM.xlsx-AASE_K562_KD-geneSymbol_AR Rummagene Transcription Factor Associations 2026 1.0 null GSE174522_1_v_0_spp1_mouse RummaGEO Gene Perturbation Signatures 1.0 null BRD-A89354030 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.00386 Ciliary inversin compartment COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.82 CTCF_T-cell acute lymphoblastic leukemia_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormality of the eyelid HPO Gene-Disease Associations 1.0 null GTEX-OXRN-0005-SM-2I5EU GTEx Tissue Sample Gene Expression Profiles -1.0 -1.87029 Posterior amygdalar nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.14276 GTEX-UPIC-0005-SM-3GACV GTEx Tissue Sample Gene Expression Profiles -1.0 -0.874152 H3K4me1_CD4 Memory Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null MDAMB134VI Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles 1.0 1.12863 Subiculum, dorsal part, molecular layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.63597 Esophagus - Muscularis GTEx Tissue Gene Expression Profiles 2023 1.0 2.16786 Liver hepatocellular carcinoma_LIHC_TCGA-QA-A7B7-01A-11R-A32O-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null cerebellar cortex_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.07468 CTCF_HeLa-S3_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null Flatfoot DisGeNET Gene-Phenotype Associations 1.0 null GSE158834_2_v_4_palm_human RummaGEO Gene Perturbation Signatures 1.0 null CRCGN015_MCF10A.WT.HP_24H:J12 Carcinogenome Chemical Perturbation Carcinogenicity Signatures -1.0 -2.03189 GSE81796_0_v_2_enzalutamide_human RummaGEO Drug Perturbation Signatures 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-BB-4223-01A-01R-1436-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GSE114258_3_v_2_foxk1_mouse RummaGEO Gene Perturbation Signatures 1.0 null GSE198794_2_v_1_usp18_human RummaGEO Gene Perturbation Signatures 1.0 null CTCF_MCF-7_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null ZNF143 ENCODE Transcription Factor Targets 1.0 null canrenoic acid-6783 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Liver Neoplasms CTD Gene-Disease Associations 1.0 1.48556 SH4_SKIN CCLE Cell Line Proteomics 1.0 2.37937 Colon - Sigmoid GTEx Tissue Gene Expression Profiles 2023 -1.0 -1.46498 CB-31-UO16_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.309418 GSE89018_12_v_2_cry2_mouse RummaGEO Gene Perturbation Signatures 1.0 null HBL-100 cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.679 Cilium COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 3.0 TCF7L2_HCT116_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K35171408 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.61196 GSE158431_2_v_3_pioglitazone_mouse RummaGEO Drug Perturbation Signatures 1.0 null Situs inversus DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.154 CTCF_Caco-2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null EP300 ENCODE Transcription Factor Targets 1.0 null GTEX-S95S-0005-SM-2XCEC GTEx Tissue Sample Gene Expression Profiles -1.0 -1.30407 Imaginal disc TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.055 NUS1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.03915 CTCF_fibroblast of pedal digit skin_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GRK3 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00614582 ajmaline-7484 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null chrysin-5505 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null VZ in frontal polar cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.00231 GTEX-P78B-1926-SM-3P616 GTEx Tissue Sample Gene Expression Profiles 1.0 0.963299 Ciliary transition zone COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.518 HCC1569 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.865148 E2F6_K562_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null PCBP1_02_137 KnockTF Gene Expression Profiles with Transcription Factor Perturbations -1.0 -0.62365 r2 part of dorsal parvicellular reticular formation Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.24734 HT1197 CCLE Cell Line Gene Expression Profiles -1.0 -3.02638 GSE248045,GSE248046_6_v_1_runx1_mouse RummaGEO Gene Perturbation Signatures -1.0 null GTEX-XUYS-0326-SM-47JX2 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.02024 Joubert syndrome 5 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.209 GSE120216_3_v_0_cbfb_human RummaGEO Gene Perturbation Signatures -1.0 null ATF1 ENCODE Transcription Factor Targets 1.0 null GTEX-R55G-2326-SM-2TC61 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.928569 GSE182680,GSE182683_7_v_8_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null CTCF_astrocyte of the spinal cord_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GC-04-UF36_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.245841 CRCGN009_HEPG2_24H:O05 Carcinogenome Chemical Perturbation Carcinogenicity Signatures -1.0 -2.19973 H2AFZ_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null SNU46 CCLE Cell Line Gene Expression Profiles 1.0 1.35153 rostral ventrolateral reticular area Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.35067 trichostatin A-5976 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null NCI-H1395 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.10001 496100409_FWM_no dementia_TBI_85_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.41702 lateral tuberal nucleus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.837389 macromolecular complex GO Cellular Component Annotations 2015 1.0 null skeletal muscle HPA Tissue Gene Expression Profiles -1.0 -1.4907 MEIS1-26253404-OPTIC-CUPS-MOUSE ChEA Transcription Factor Targets 2022 1.0 null Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-MY-A5BD-01A-11R-A26T-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K49328571_dasatinib_HCC515_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null absent frontal bone MPO Gene-Phenotype Associations 1.0 null RAB3A_Mutation - D77G point mutation_GDS2483_698_mouse_Hippocampus GEO Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 null UA-39-TN76_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.212658 GTEX-XBEW-0126-SM-4AT66 GTEx Tissue Sample Gene Expression Profiles 1.0 0.911644 cilium GO Cellular Component Annotations 2023 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-CN-A6UY-01A-12R-A34R-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H-EMC-SS GDSC Cell Line Gene Expression Profiles 1.0 2.36592 tetraethylenepentamine-574 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Centriolar satellite COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.836 CRCGN017_MCF10A.WT.HP_24H:P06 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.5785 CRCGN015_HEPG2_48H:C24 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 4.01255 nucleus of the lateral olfactory tract Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.2251 Head TISSUES Curated Tissue Protein Expression Evidence Scores 2025 1.0 4.0 POLR2A_GM12878_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN017_MCF10A.TP53.M_24H:E13 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.82986 JUN_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_Chondrocytes from Bone Marrow Derived Mesenchymal Stem Cell Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null NR1I3 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 17.1191 Retinitis pigmentosa ClinVar Gene-Phenotype Associations 2025 1.0 null Cyst TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.543 ARID3A ENCODE Transcription Factor Targets 1.0 null CRCGN013_HEPG2_24H:L21 Carcinogenome Chemical Perturbation Carcinogenicity Signatures -1.0 -2.51955 USF1_ECC-1_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null small mandible MPO Gene-Phenotype Associations 1.0 null PK-45H Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null GTEX-XBED-2626-SM-4E3J5 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.831048 GTEX-T2IS-0011-R11A-SM-32QPC GTEx Tissue Sample Gene Expression Profiles 1.0 1.03248 BRD-A44068497 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.16857 HEC59 CCLE Cell Line Gene CNV Profiles -1.0 -1.55739 autosomal recessive inheritance HPO Gene-Disease Associations 1.0 null SIN3A_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormality of the skull HPO Gene-Disease Associations 1.0 null GTEX-OHPK-0006-SM-2HMKH GTEx Tissue Sample Gene Expression Profiles -1.0 -1.81587 Perturb_288_KD_JMJD6_SRP334376 PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 -3.40995 Liver epithelial cell line TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.654 GTEX-XLM4-3126-SM-4AT6M GTEx Tissue Sample Gene Expression Profiles 1.0 1.62673 skeleton phenotype MPO Gene-Phenotype Associations 1.0 null BRD-K47694606 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.3335 BRD-K98586629 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.21267 H3K4me3_brain microvascular endothelial cell_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null GSE235605,GSE235701_0_v_1_enasidenib_human RummaGEO Drug Perturbation Signatures 1.0 null GTEX-PWOO-0006-SM-2I3E3 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.36718 Intraciliary transport particle A COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 3.462 496100405_TCx_probable Alzheimer's disease_no TBI_88_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.73437 Signal Transduction Reactome Pathways 2024 1.0 null LY-294002-1019 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null PMC3443648-1752-0509-6-89-S1.xls-Sheet1-NFYA_NFYA Rummagene Transcription Factor Associations 2026 1.0 null H3K4me3_Stomach Mucosa Roadmap Epigenomics Histone Modification Site Profiles 1.0 null medial parabrachial nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.03512 abnormality of the midface HPO Gene-Disease Associations 1.0 null BRD-K25226763 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.75988 substantia nigra, pars compacta, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.13709 GSE133213_6_v_3_znrf3_mouse RummaGEO Gene Perturbation Signatures 1.0 null narrow chest HPO Gene-Disease Associations 1.0 null abnormal limb mesenchyme morphology MPO Gene-Phenotype Associations 1.0 null BRD-K52335877 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.84676 GTEX-SIU8-0626-SM-2XCDN GTEx Tissue Sample Gene Expression Profiles 1.0 0.950286 5637 DepMap CRISPR Gene Dependency 1.0 2.16303 E2F6_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null HCC193 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.987101 GSE234637_1_v_0_cytarabine_human RummaGEO Drug Perturbation Signatures 1.0 null Brain Lower Grade Glioma_LGG_TCGA-DU-6404-01A-11R-1708-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CTCF_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-WHSB-2026-SM-3LK6H GTEx Tissue Sample Gene Expression Profiles 1.0 0.979467 furazolidone LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.16959 BRD-K63068307_ZSTK-474_HA1E_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Short Rib-Polydactyly Syndrome DisGeNET Gene-Disease Associations 1.0 null Paraventricular hypothalamic nucleus, parvicellular division, medial parvicellular part, dorsal zone Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.55827 Lung squamous cell carcinoma_LUSC_TCGA-56-8082-01A-11R-2247-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null REST ENCODE Transcription Factor Targets 1.0 null Kidney failure DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.804 GTEX-XV7Q-0326-SM-4BRVM GTEx Tissue Sample Gene Expression Profiles 1.0 1.04001 BRD-K32511780 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.00306 Tracheal epithelium TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.926 amygdaloid complex_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.15432 POLR2A_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null proteinuria HPO Gene-Disease Associations 1.0 null abnormal axial skeleton morphology MPO Gene-Phenotype Associations 1.0 null H3K4me3_cardiac mesoderm_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null abnormal muscle morphology MPO Gene-Phenotype Associations 1.0 null BRD-K87530935 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.11149 GTEX-VUSG-0426-SM-3GIKD GTEx Tissue Sample Gene Expression Profiles 1.0 1.42685 BC-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null trichostatin A-6579 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Liver Carcinoma DisGeNET Gene-Disease Associations 1.0 null CTCF_fibroblast of skin of abdomen_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null PPP2R5C LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00473326 TE617T CCLE Cell Line Gene Expression Profiles 1.0 1.79926 GSE88819_1_v_2_tug1_mouse RummaGEO Gene Perturbation Signatures -1.0 null Breast - Mammary Tissue GTEx Tissue Gene Expression Profiles 2023 1.0 2.54006 VRK1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.00662 KLF4-25985364-ATHEROSCLEROSIS-LESION-MOUSE ChEA Transcription Factor Targets 2022 1.0 null JUND_HepG2_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_LNCaP clone FGC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BL4893 (CDC20) NURSA Protein Complexes 1.0 null mediodorsal nucleus of thalamus_19 pcw_F_12885 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.935433 Prostate adenocarcinoma_PRAD_TCGA-KK-A59X-01A-11R-A29R-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null BRD-K40221630 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.05747 sensory organ development GO Biological Process Annotations 2015 1.0 null MOLP-8 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.18724 hsa-miR-320b TargetScan Predicted Nonconserved microRNA Targets 1.0 1.40969 primary visual cortex (striate cortex, area V1/17)_16 pcw_M_12287 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.929549 prednisolone-5526 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null posterior (caudal) superior temporal cortex (area 22c)_12 pcw_F_12835 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.916438 CTCF_foreskin fibroblast_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null SE-15-AV21_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.276965 18172295-SuppTable2 GeneSigDB Published Gene Signatures 1.0 null GSE137818_3_v_6_brca2_mouse RummaGEO Gene Perturbation Signatures -1.0 null QGP-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.966955 KM12 COSMIC Cell Line Gene Mutation Profiles 1.0 null globe disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null Kidney renal papillary cell carcinoma_KIRP_TCGA-IZ-8196-01A-11R-2404-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Dorsal nucleus raphe Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.18505 trichostatin A-5903 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null POLR2AphosphoS5_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormality of skin adnexa HPO Gene-Disease Associations 1.0 null PMC7498599-41467_2020_18508_MOESM11_ESM.xlsx-8cell_ZSCAN4-Unnamed_3_ZSCAN4 Rummagene Transcription Factor Associations 2026 1.0 null PMC5105166-ncomms13331-s11.xlsx-Sheet1-Supplementary_Data_10_Overlap_of_upregulated_genes_in_MEF2D-rearranged_cases_with_public_ChIPseq_RNAseq_data_MEF2D Rummagene Transcription Factor Associations 2026 1.0 null Hernia DisGeNET Gene-Phenotype Associations 1.0 null Pallor DisGeNET Gene-Phenotype Associations 1.0 null trichostatin A-1732 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BLOC-1 complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.539 primary auditory cortex (core)_36 yrs_M_12302 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.05928 VIIIA, left, lateral hemisphere Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.869926 Flagellum TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.538 CTCF_endothelial cell of umbilical vein_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null REST_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null organ morphogenesis GO Biological Process Annotations 2015 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-77-7142-11A-01R-2045-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null eye disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null H3K4me1_small intestine_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null Axoneme COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.764 Neoplasms, Experimental CTD Gene-Disease Associations 1.0 1.05535 TCFAP2C-20176728-TROPHOBLAST STEM CELLS-MOUSE ChEA Transcription Factor Binding Site Profiles 1.0 null STAT3_MCF 10A_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_heart_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-X4XY-0626-SM-4E3IN GTEx Tissue Sample Gene Expression Profiles -1.0 -0.99631 GTEX-P4QT-2026-SM-3NMCJ GTEx Tissue Sample Gene Expression Profiles 1.0 1.71618 CAPAN1 DepMap CRISPR Gene Dependency 1.0 8.28931 abnormality of the upper urinary tract HPO Gene-Disease Associations 1.0 null GTEX-XMD3-0006-SM-4AT5X GTEx Tissue Sample Gene Expression Profiles -1.0 -0.833408 BRD-K70042405 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.11515 abnormal limb long bone morphology MPO Gene-Phenotype Associations 1.0 null GSE125211_0_v_1_nicotinamide_mouse RummaGEO Drug Perturbation Signatures 1.0 null CTCF_GM12872_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-A71833059 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.72666 GTEX-TKQ1-0126-SM-33HB3 GTEx Tissue Sample Gene Expression Profiles 1.0 0.93713 Abnormality Of Nail Of Toe DisGeNET Gene-Phenotype Associations 1.0 null POLR2AphosphoS5_neural cell_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null CA SKI Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.10148 GTEX-SE5C-0726-SM-4BRWY GTEx Tissue Sample Gene Expression Profiles 1.0 2.43862 SNU1033 DepMap CRISPR Gene Dependency 1.0 2.20018 GSE200687,GSE200688_1_v_0_sox15_mouse RummaGEO Gene Perturbation Signatures -1.0 null RT-112 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.67026 TA-34-CK62_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.287061 GSE103068_0_v_4_volasertib_human RummaGEO Drug Perturbation Signatures 1.0 null abnormality of the teeth HPO Gene-Disease Associations 1.0 null BRD-K32373560 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.04495 single-organism membrane organization GO Biological Process Annotations 2015 1.0 null nucleoplasm GO Cellular Component Annotations 2015 1.0 null Signaling by Hedgehog Reactome Pathways 2014 1.0 null Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-FU-A3EO-11A-13R-A213-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Adenocarcinoma CTD Gene-Disease Associations 1.0 1.18554 MKS complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.979 short maxilla MGI Mouse Phenotype Associations 2023 1.0 null GSE77108_4_v_1_saha_human RummaGEO Drug Perturbation Signatures -1.0 null Metatarsal bone TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.74 GTEX-VJYA-0005-SM-3P5ZD GTEx Tissue Sample Gene Expression Profiles -1.0 -1.52673 NFYB_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Chondrocyte cell line TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.867 H3K4me3_skeletal muscle cell_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null abnormal nervous system morphology MPO Gene-Phenotype Associations 1.0 null Retinal dystrophy ClinVar Gene-Phenotype Associations 2025 1.0 null BHT101 CCLE Cell Line Gene Expression Profiles 1.0 1.52718 spectinomycin-3327 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K86008496 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.07189 BRD-K09842906 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.03172 H3K4me1_mononuclear cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null abnormal craniofacial development MPO Gene-Phenotype Associations 1.0 null Spermatogenic failure ClinVar Gene-Phenotype Associations 2025 1.0 null SK-N-FI Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.12488 COLO-704 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.09258 Neuro D MotifMap Predicted Transcription Factor Targets 1.0 null Delayed Myelination DisGeNET Gene-Phenotype Associations 1.0 null BRD-K07667918_linsitinib_HT29_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null PMC10082046-41467_2023_37049_MOESM6_ESM.xlsx-Sheet1-Supplementary_Data_3_Genes_downregulated_in_ASPS-KY_cells_by_ASPSCR1-TFE3_knockdown_TFE3 Rummagene Transcription Factor Associations 2026 1.0 null vorinostat-6179 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null intermediate stratum of DG Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.23118 abnormal long bone morphology MPO Gene-Phenotype Associations 1.0 null cleft lip MPO Gene-Phenotype Associations 1.0 null PMC12575911-43556_2025_329_MOESM2_ESM.xlsx-SD2_MITF_CoBindingGenes-Gene_MITF Rummagene Transcription Factor Associations 2026 1.0 null GTEX-R3RS-0726-SM-3GIJR GTEx Tissue Sample Gene Expression Profiles 1.0 0.831191 gamma-tubulin complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.614 duodenum HPA Tissue Protein Expression Profiles 1.0 1.06804 medial amygdala, anterodorsal part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.17883 anterior (rostral) cingulate (medial prefrontal) cortex_12 pcw_F_13060 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.835521 NCI-H1770 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -2.47627 dorsolateral prefrontal cortex_26 pcw_F_12949 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -0.826861 GSE158834_10_v_5_palm_human RummaGEO Gene Perturbation Signatures -1.0 null A-Vietnam-1203_CIP048_RG3-2004(H5N1)mutPB2-627E_3Hour_None_GSE43203 GEO Signatures of Differentially Expressed Genes for Viral Infections -1.0 -1.29741 stage 5 chronic kidney disease HPO Gene-Disease Associations 1.0 null primary somatosensory cortex (area S1, areas 3,1,2)_37 yrs_M_12303 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.11342 CRCGN017_MCF10A.WT.HP_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 5.80875 CRCGN016_MCF10A.WT.HP_24H:K10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.22239 Medial amygdalar nucleus, posterodorsal part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.01517 Syndactyly DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.531 dorsolateral prefrontal cortex_8 yrs_M_12981 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -0.946622 GTEX-P4PQ-0005-SM-2HMKJ GTEx Tissue Sample Gene Expression Profiles -1.0 -1.12915 CTCF_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null dentate nucleus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -0.829526 H3K9ac_Brain Mid Frontal Lobe Roadmap Epigenomics Histone Modification Site Profiles 1.0 null BRD-K53988836 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.02524 Death CTD Gene-Disease Associations 1.0 1.05126 Autosomal recessive disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.438 GTEX-VUSG-0006-SM-3GIK9 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.0556 BRD-K64890080_BI-2536_HEPG2_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K36042673 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.09657 H3K4me3_cardiac muscle cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null POLR2A_testis_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE184892_6_v_3_trehalose_human RummaGEO Drug Perturbation Signatures 1.0 null GSE248858_1_v_3_tcpobop_mouse RummaGEO Drug Perturbation Signatures -1.0 null olfactory bulb Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.11273 GTEX-XUJ4-0005-SM-4BOQ6 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.51001 NCI-H2405 GDSC Cell Line Gene Expression Profiles -1.0 -1.45914 CRCGN012_HEPG2_24H:K08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.88899 ifosfamide-6279 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null H3K27ac_Brain Hippocampus Middle Roadmap Epigenomics Histone Modification Site Profiles 1.0 null H3K4me3_foreskin fibroblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-PSDG-1426-SM-48TD1 GTEx Tissue Sample Gene Expression Profiles 1.0 0.874714 BRD-K04108962 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.51512 GTEX-P44H-2426-SM-2XCEJ GTEx Tissue Sample Gene Expression Profiles 1.0 1.61591 GSE94011_0_v_3_pias3_mouse RummaGEO Gene Perturbation Signatures -1.0 null periventricular mantle of isBM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.22387 H3K4me3_fibroblast of the aortic adventitia_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null H3K4me2_H1 BMP4 Derived Mesendoderm Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null BRD-K37780492 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.21912 GTEX-OXRP-0006-SM-2I3FN GTEx Tissue Sample Gene Expression Profiles -1.0 -2.33513 GTEX-TSE9-0226-SM-3DB84 GTEx Tissue Sample Gene Expression Profiles 1.0 0.896144 PMC10661700-41525_2023_383_MOESM2_ESM.xlsx-Supp_Table5_gnomAD_SAS_GCR-SYMBOL_NR3C1 Rummagene Transcription Factor Associations 2026 1.0 null BRD-A45498368_WYE-125132_HS578T_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null HCC2998 COSMIC Cell Line Gene Mutation Profiles 1.0 null CTCF_GM12874_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_CD14-positive monocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null TBX20-22328084-HEART-MOUSE ChEA Transcription Factor Targets 2022 1.0 null MXI1_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null MXI1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null periventricular stratum of r2BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.88371 primary auditory cortex (core)_4 yrs_M_12298 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.46171 EW-7 COSMIC Cell Line Gene CNV Profiles 1.0 4.51153 MAX_ECC-1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-A75087829 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.4085 Dentate gyrus, granule cell layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.53747 BRD-K64567246 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.00608 H3K27ac_CD4+ CD25- CD45RO+ Memory Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GTEX-OHPK-2326-SM-3MJH2 GTEx Tissue Sample Gene Expression Profiles 1.0 0.871775 organism form TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.051956 Neurotoxicity Syndromes CTD Gene-Disease Associations 1.0 1.24433 BRD-K10130686 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.09977 CTCF_lung_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-58-8388-01A-11R-2326-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null intracellular organelle GO Cellular Component Annotations 2015 1.0 null COR-L88 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.61191 COLO205 DepMap CRISPR Gene Dependency 1.0 2.21745 Leber congenital amaurosis 3 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.047 GSE103068_5_v_7_volasertib_human RummaGEO Drug Perturbation Signatures 1.0 null GTEX-WL46-3026-SM-3LK7Z GTEx Tissue Sample Gene Expression Profiles 1.0 2.06123 hydroflumethiazide-1851 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null PMC12830621-41467_2025_67611_MOESM11_ESM.xlsx-Sheet1-Suppl_Data-9_Common_differentially_up-regulated_genes_in_high_vs_low_Mecom_MECOM_mouse_KME_AML_cells_and_human_AML_from_4_public_databases_MECOM Rummagene Transcription Factor Associations 2026 1.0 null mepyramine-1568 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null abnormality of the toenails HPO Gene-Disease Associations 1.0 null trichostatin A-5336 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Microdontia (Disorder) DisGeNET Gene-Disease Associations 1.0 null dorsal peduncular cortex, intermediate part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.24866 PMC7430827-12864_2020_6933_MOESM4_ESM.xlsx-Sheet1-Additional_file_4_Table_S4_A_list_of_3_062_genes_containing_locus_where_only_KD_had_non-synonymous_SNPs_compared_to_other_duck_breeds_AR Rummagene Transcription Factor Associations 2026 1.0 null tuberomammillary nucleus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.00026 H3K4me3_retinal pigment epithelial cell_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null H3K4me2_CD14-positive monocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BRCA1_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K86797399_pracinostat_HT29_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CL-11 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.946513 ovary_6b HPA Tissue Sample Gene Expression Profiles 1.0 0.913332 substantia nigra, pars reticulata, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.03775 AURKC LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00491235 pentetrazol-2092 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null DQX1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.12981 BRD-K01371603 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.84022 alexidine-4721 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CCRF-CEM COSMIC Cell Line Gene Mutation Profiles 1.0 null POLR2A_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null trichostatin A-1234 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE140441_2_v_0_temozolomide_human RummaGEO Drug Perturbation Signatures 1.0 null FOXA2 ENCODE Transcription Factor Targets 1.0 null GSE138938_1_v_2_foxp2_human RummaGEO Gene Perturbation Signatures 1.0 null POLR2AphosphoS5_endothelial cell of umbilical vein_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null HB-06-WU12_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.397342 RKO Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null H3K4me1_Adult Liver Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GSE57871_6_v_2_vorinostat_human RummaGEO Drug Perturbation Signatures 1.0 null Photoreceptor outer segment COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.4 PMC9232687-13238_2021_887_MOESM3_ESM.xlsx-37_KD_sgCDC20_vs_sgNTC-Unnamed_1_AR Rummagene Transcription Factor Associations 2026 1.0 null GTEX-PVOW-2726-SM-48TCA GTEx Tissue Sample Gene Expression Profiles 1.0 1.06006 GTEX-XLM4-0726-SM-4AT64 GTEx Tissue Sample Gene Expression Profiles 1.0 1.32408 CRCGN017_MCF10A.TP53.M_24H:C01 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 4.5638 H3K27ac_CD4+ CD25int CD127+ Tmem Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null cytoplasmic part LOCATE Predicted Protein Localization Annotations 1.0 null BRD-K57650037 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.85957 Bladder Urothelial Carcinoma_BLCA_TCGA-G2-A2EL-01A-12R-A18C-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null HT-115 cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.6 GTEX-Q2AG-3026-SM-48U1L GTEx Tissue Sample Gene Expression Profiles 1.0 1.20467 GTEX-S32W-2526-SM-2XCB8 GTEx Tissue Sample Gene Expression Profiles 1.0 1.24966 Male infertility due to globozoospermia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.306 abnormal hand morphology HPO Gene-Disease Associations 1.0 null MAZ_IMR-90_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE135352_0_v_4_napabucasin_human RummaGEO Drug Perturbation Signatures -1.0 null H3K27ac_HeLa-S3_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_kidney epithelial cell_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null H3K27ac_iPS DF 19.11 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Autosomal recessive polycystic kidney disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.993 RAD21_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null dolichocephaly HPO Gene-Disease Associations 1.0 null 4-Nitropiazthiole DeepCoverMOA Drug Mechanisms of Action -1.0 -0.67 BRD-K61027868 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.36172 JUND_H1-hESC_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2AphosphoS5_Panc1_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null eye development GO Biological Process Annotations 2015 1.0 null medial amygdala, posterodorsal part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.20338 cancer DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.03937 Kidney Chromophobe_KICH_TCGA-KN-8423-11A-01R-2315-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-TKQ1-0006-SM-33HBI GTEx Tissue Sample Gene Expression Profiles -1.0 -0.854941 NCI-H2452 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.902767 PMC4619688-pone.0140684.s004.xlsx-Sheet6-AA_change_TEAD1 Rummagene Transcription Factor Associations 2026 1.0 null GSE247764_0_v_2_nell2_mouse RummaGEO Gene Perturbation Signatures 1.0 null H3K4me3_GM12864_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null IZ in posterior parahippocampal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.936848 GTEX-OXRN-2626-SM-48TBX GTEx Tissue Sample Gene Expression Profiles 1.0 1.55079 Synostosis DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.233 GTEX-WQUQ-0006-SM-3MJF4 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.00473 GTEX-X4XX-0008-SM-46MVK GTEx Tissue Sample Gene Expression Profiles 1.0 1.03401 GSE186810,GSE186813_7_v_0_furin_mouse RummaGEO Gene Perturbation Signatures -1.0 null GSE159678_4_v_2_chloroquine_human RummaGEO Drug Perturbation Signatures -1.0 null PMC4989457-13073_2016_339_MOESM3_ESM.xls-MITF-_SURVIVAL-hugo_id_MITF Rummagene Transcription Factor Associations 2026 1.0 null Ciliopathies DisGeNET Gene-Disease Associations 1.0 null intracellular part COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.266408 full cheeks HPO Gene-Disease Associations 1.0 null PMC6904118-NIHMS1544763-supplement-5.xlsx-MYB_Combined-MYB_Combined_sgRNA_MYB Rummagene Transcription Factor Associations 2026 1.0 null GTEX-QXCU-1726-SM-2TC6L GTEx Tissue Sample Gene Expression Profiles -1.0 -0.87938 HCC1534 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.78984 abnormal palatine bone horizontal plate morphology MPO Gene-Phenotype Associations 1.0 null H3K4me1_heart_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null ZBTB33_A549_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Brain Lower Grade Glioma_LGG_TCGA-E1-A7YQ-01A-11R-A34R-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Joubert syndrome 3 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.794 ZBTB33 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 19.8057 A375 COSMIC Cell Line Gene Mutation Profiles 1.0 null abnormal embryonic tissue morphology MPO Gene-Phenotype Associations 1.0 null CHEMBL569227 DeepCoverMOA Drug Mechanisms of Action -1.0 -0.67 EPZ004777 DeepCoverMOA Drug Mechanisms of Action -1.0 -0.49 FOXO3-22982991-MACROPHAGES-MOUSE ChEA Transcription Factor Binding Site Profiles 1.0 null A-Vietnam-1203_CIP048_RG3-2004(H5N1)PB1-F2del_2day-MOI-10^3_None_GSE43302 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 1.53511 Ring centriole COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.845 NME6 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.0219 SIN3A_MCF-7_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null UMUC16 DepMap CRISPR Gene Dependency 1.0 3.6453 GTEX-WFG8-0426-SM-3GILD GTEx Tissue Sample Gene Expression Profiles 1.0 0.834999 Head and Neck squamous cell carcinoma_HNSC_TCGA-WA-A7H4-01A-21R-A34R-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRCA1 ENCODE Transcription Factor Targets 1.0 null CTCF_kidney epithelial cell_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me1_HeLa-S3_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null axoneme part COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 1.50453 ES-2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.844547 H3K4me1_CD4+ CD25- CD45RA+ Naive Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null BRD-K44643967 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.23541 outer CP in subgenual (subcallosal) cingulate cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.00934 trichostatin A-5625 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null interparietal bone hypoplasia MGI Mouse Phenotype Associations 2023 1.0 null chronic tubulointerstitial nephritis HPO Gene-Disease Associations 1.0 null dorsolateral prefrontal cortex_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.85561 GTEX-P4QS-0226-SM-3NB1U GTEx Tissue Sample Gene Expression Profiles 1.0 0.882358 aplasia/hypoplasia involving bones of the lower limbs HPO Gene-Disease Associations 1.0 null Accessory olfactory bulb, granular layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.94129 organelle GO Cellular Component Annotations 2015 1.0 null H3K4me1_A549_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null POLR2A_limb_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Senior-Loken syndrome DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 anophthalmia MPO Gene-Phenotype Associations 1.0 null reuniens nucleus, main part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.12431 BRD-A04231641 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.27851 Cardiovascular Abnormalities CTD Gene-Disease Associations 1.0 1.28395 CEBPB ENCODE Transcription Factor Targets 1.0 null transport GO Biological Process Annotations 2015 1.0 null autosomal recessive disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null CTCF_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null ERF::FOXI1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 23.7592 superficial stratum of r7Co Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -2.28335 H3K4me3_bone marrow macrophage_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null trichostatin A-7407 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Long bone TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.579 trichostatin A-981 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null UMUC1 CCLE Cell Line Gene Expression Profiles -1.0 -1.45702 PMC3889689-elife01439s001.xls-RFX2_rnaseq_chip_DirectDE_final-GeneName_RFX2 Rummagene Transcription Factor Associations 2026 1.0 null short premaxilla MGI Mouse Phenotype Associations 2023 1.0 null H3K4me3_Duodenum Mucosa Roadmap Epigenomics Histone Modification Site Profiles 1.0 null TEX19 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.2302 nervous system TISSUES Curated Tissue Protein Expression Evidence Scores 1.0 null CTCF_K562_hg19_7 ENCODE Transcription Factor Binding Site Profiles 1.0 null PABPN1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00697203 BRD-K34181077 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.18569 retinal disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null GTF2F1_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_H7_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-T6MO-1026-SM-4DM72 GTEx Tissue Sample Gene Expression Profiles 1.0 0.951158 GTEX-QV44-0826-SM-2S1RG GTEx Tissue Sample Gene Expression Profiles 1.0 1.47483 SNU761 CCLE Cell Line Gene CNV Profiles 1.0 2.06018 Hereditary choroidal atrophy DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.261 ventral reuniens nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.0235 OCT1-27270436-CHIP-SEQ-PROSTATE-HUMAN ChEA Transcription Factor Targets 2022 1.0 null recurrent infections HPO Gene-Disease Associations 1.0 null GTEX-XUW1-0626-SM-4BOP4 GTEx Tissue Sample Gene Expression Profiles 1.0 1.20209 H3K4me3_erythroblast_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null bronchus HPA Tissue Protein Expression Profiles 1.0 1.06804 H3K4me3_A549_hg19_4 ENCODE Histone Modification Site Profiles 1.0 null BRD-K11804865 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.98628 r3 part of trigeminal transition zone Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.54093 GSE175787_4_v_7_rhoc_human RummaGEO Gene Perturbation Signatures -1.0 null r3 part of spinal trigeminal sensory column, oral part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.55787 GTEX-NFK9-0726-SM-2HMJW GTEx Tissue Sample Gene Expression Profiles 1.0 1.22894 embryonic organ morphogenesis GO Biological Process Annotations 2015 1.0 null Chronic Interstitial Nephritis DisGeNET Gene-Disease Associations 1.0 null abnormal craniofacial development MGI Mouse Phenotype Associations 2023 1.0 null H3K27ac_heart_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null abnormality of upper lip HPO Gene-Disease Associations 1.0 null ZR-75-30 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.955124 GSE178714_5_v_7_smad2_human RummaGEO Gene Perturbation Signatures 1.0 null cellular component assembly GO Biological Process Annotations 2015 1.0 null medial part of r9B Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.02462 EP300_heart_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null ARHGAP27 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00540298 BRD-K18887540 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.40118 GTEX-X638-0008-SM-47JZ7 GTEx Tissue Sample Gene Expression Profiles 1.0 1.31162 BRD-A45498368_HY-10044_ASC_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Testicular vein TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.057 Cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.927 Lung Neoplasms CTD Gene-Disease Associations 1.0 1.45537 heart GTEx Tissue Gene Expression Profiles -1.0 -0.885983 Skin Cutaneous Melanoma_SKCM_TCGA-EE-A2MK-06A-11R-A18S-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K81450614 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.06645 GSE214931_4_v_0_temozolomide_human RummaGEO Drug Perturbation Signatures -1.0 null CLPP_KO_GSE40207_379_mouse_liver GEO Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 null BRD-K30910725 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.10537 H3K4me3_HeLa-S3_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null r6 part of nucleus prepositus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.18072 H3K4me3_MEL cell line_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null Reduced Visual Acuity DisGeNET Gene-Phenotype Associations 1.0 null BRD-K70914287_BIBX 1382 dihydrochloride_HA1E_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K43435656 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.40018 nucleus incertus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.56846 Perturb_7267_OE_OspC3_SRP368098 PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations 1.0 4.0072 NFYA_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_H9 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null SK-MES-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.53596 Dysostosis DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.358 HS852T CCLE Cell Line Gene Expression Profiles 1.0 2.25416 CTCF_GM12875_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null substantia nigra, pars reticulata, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.78608 FOXA1-33576154-HUMAN-LUNG-PROSTATECANCER ChEA Transcription Factor Targets 2022 1.0 null BRD-K03063480_PF-477736_A375_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K86721033 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.43087 ZE-45-CG69_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.254887 pentetic acid-5264 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE210101,GSE210114_0_v_3_urod_human RummaGEO Gene Perturbation Signatures 1.0 null Abnormality Of The Sternum DisGeNET Gene-Phenotype Associations 1.0 null HEL Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.26298 H3K27ac_H1-hESC_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null microtubule-based movement GO Biological Process Annotations 2015 1.0 null Lissencephaly 6 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.211 GTEX-QMRM-0005-SM-3NB2A GTEx Tissue Sample Gene Expression Profiles -1.0 -1.58294 GSE159893_2_v_0_genistein_human RummaGEO Drug Perturbation Signatures 1.0 null GTEX-P4QS-0726-SM-3NMCZ GTEx Tissue Sample Gene Expression Profiles 1.0 0.865193 H3K4me3_MCF-7_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null LY-294002-424 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null superficial stratum of r8BI Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.45408 trichostatin A-2035 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null POLR2A_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H2AFZ_A549_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K27me3_CD14-positive monocyte_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormality of the lip HPO Gene-Disease Associations 1.0 null USF1_ECC-1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null MEWO Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-Q1-A6DV-01A-11R-A32P-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null vorinostat-1161 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K27me3_cardiac mesoderm_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE229973_3_v_5_cisplatin_human RummaGEO Drug Perturbation Signatures -1.0 null Orbital Separation Diminished DisGeNET Gene-Phenotype Associations 1.0 null posterior (caudal) superior temporal cortex (area 22c)_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.62678 abnormal myotome development MPO Gene-Phenotype Associations 1.0 null Bladder Urothelial Carcinoma_BLCA_TCGA-FJ-A3Z7-01A-12R-A23N-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CiliaryGanglion BioGPS Human Cell Type and Tissue Gene Expression Profiles -1.0 -1.70116 Rod-Cone Dystrophy DisGeNET Gene-Disease Associations 1.0 null dorsolateral prefrontal cortex_30 yrs_F_12290 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.08756 metaphyseal widening HPO Gene-Disease Associations 1.0 null CRCGN017_MCF10A.TP53.M_24H:H08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.17023 H3K4me2_A549_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_Pancreatic Islets Roadmap Epigenomics Histone Modification Site Profiles 1.0 null CTCF_astrocyte_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-A59995060 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.06596 abnormality of bone marrow cell morphology HPO Gene-Disease Associations 1.0 null PLPP2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.62223 GSE195568_3_v_0_palbociclib_human RummaGEO Drug Perturbation Signatures -1.0 null CTCF_GM12878_hg19_5 ENCODE Transcription Factor Binding Site Profiles 1.0 null FOXA1_HepG2_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me1_CD4+ CD25- IL17+ PMA-Ionomcyin stimulated Th17 Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GSE221327_4_v_9_clpp_human RummaGEO Gene Perturbation Signatures -1.0 null GTEX-OIZI-0008-SM-2XCFD GTEx Tissue Sample Gene Expression Profiles 1.0 1.30509 H3K4me3_epithelial cell of proximal tubule_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K63068307_ZSTK-474_BT20_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null bone TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.057845 GSE89018_12_v_14_cry2_mouse RummaGEO Gene Perturbation Signatures 1.0 null EA-39-YN88_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.400152 GSE158834_2_v_9_palm_human RummaGEO Gene Perturbation Signatures 1.0 null GTEX-U3ZM-1226-SM-3DB9G GTEx Tissue Sample Gene Expression Profiles -1.0 -0.839869 whole body TISSUES Experimental Tissue Protein Expression Evidence Scores 1.0 0.23362 GSE88819_1_v_8_tug1_mouse RummaGEO Gene Perturbation Signatures -1.0 null H3K27ac_H1 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null submedius thalamic nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.31934 HBL-100 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 2.15752 JUND_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null MEIS2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.10548 H3K27ac_CD8 Memory Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Brachydactyly DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.201 abnormality of the dental pulp HPO Gene-Disease Associations 1.0 null GSE158431_2_v_0_pioglitazone_mouse RummaGEO Drug Perturbation Signatures 1.0 null HDAC2 ENCODE Transcription Factor Targets 1.0 null PORCN CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.02534 MAX_HeLa-S3_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE234637_1_v_0_ikzf1_human RummaGEO Gene Perturbation Signatures 1.0 null SG in lateral temporal-occipital cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.25366 GTEX-T8EM-1526-SM-3DB7I GTEx Tissue Sample Gene Expression Profiles 1.0 1.35092 PMC6612641-ACEL-18-e12970-s012.xlsx-in_vitro_ns_RAPA_Grp_1_2_genes-From_Data_Sheet_3_-_the_non_RAPA_responsive_gene_list_from_group_1_TRERF1 Rummagene Transcription Factor Associations 2026 1.0 null BRD-K07011015 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.21677 Prostate adenocarcinoma_PRAD_TCGA-HC-A48F-01A-11R-A250-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Autosomal recessive disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 JHOM1 CCLE Cell Line Gene CNV Profiles -1.0 -2.02317 outer plexiform layer TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.807299 male reproductive organ cancer DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.052547 CRCGN016_MCF10A.WT.HP_24H:C24 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.53499 TBX20-22080862-HEART-MOUSE ChEA Transcription Factor Targets 2022 1.0 null Liver hepatocellular carcinoma_LIHC_TCGA-CC-5264-01A-01R-A131-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null HCC-15 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.958298 MITF ChEA Transcription Factor Targets 1.0 null H3K4me3_fibroblast of lung_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null superficial stratum of THyB-P Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 2.22154 BRD-K32251128 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.8453 superficial stratum of r5BI Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -2.69391 central nervous system TISSUES Curated Tissue Protein Expression Evidence Scores 1.0 null ELF1_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE201877_1_v_0_yap1_human RummaGEO Gene Perturbation Signatures 1.0 null CTCF_SK-N-SH_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null absent tibia MPO Gene-Phenotype Associations 1.0 null TEAD2 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 22.1937 H3K4me3_brain microvascular endothelial cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null inferolateral temporal cortex (area TEv, area 20)_8 yrs_M_12981 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.18529 GSE144231_6_v_5_cxcr2_mouse RummaGEO Gene Perturbation Signatures 1.0 null CRCGN015_MCF10A.WT.HP_24H:G06 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.52573 CRCGN015_MCF10A.TP53.M_24H:G06 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.30696 GSE135030_11_v_0_fludarabine_human RummaGEO Drug Perturbation Signatures 1.0 null Periventricular zone Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.1684 Short Stature DisGeNET Gene-Phenotype Associations 1.0 null GTEX-O5YW-0426-SM-3MJHJ GTEx Tissue Sample Gene Expression Profiles 1.0 1.27776 NCI-H187 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.98653 GSE182680,GSE182683_10_v_12_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null Hypoplasia DisGeNET Gene-Phenotype Associations 1.0 null abnormality of the renal tubule HPO Gene-Disease Associations 1.0 null trichostatin A-6551 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null PIK3R4 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.17799 CTCF_GM12864_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_Duodenum Smooth Muscle Roadmap Epigenomics Histone Modification Site Profiles 1.0 null CTCF_SK-N-SH_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_CD14-positive monocyte_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K66838288 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.05053 abnormality of eye movement HPO Gene-Disease Associations 1.0 null pontobulbar body Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.967734 inferolateral temporal cortex (area TEv, area 20)_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.994993 GTEX-XLM4-0011-R9A-SM-4AT45 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.830849 GTEX-WYBS-1926-SM-3NM8N GTEx Tissue Sample Gene Expression Profiles 1.0 1.22092 PPIF LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00621989 GSE154577_7_v_10_plagl1_human RummaGEO Gene Perturbation Signatures -1.0 null denatonium benzoate-5480 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null DETROIT 562 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.939131 GSE119345_2_v_4_bexarotene_human RummaGEO Drug Perturbation Signatures -1.0 null GSE89057_0_v_1_sox5_human RummaGEO Gene Perturbation Signatures 1.0 null r7 part of parapyramidal nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.95973 ATF2_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Hedgehog signaling complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.503 K562_AG-14361_1µM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.0157476 polyphalangy MPO Gene-Phenotype Associations 1.0 null USF1_A549_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null WRNIP1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null 9+0 motile cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.727 CRCGN017_MCF10A.WT.HP_24H:P22 Carcinogenome Chemical Perturbation Carcinogenicity Signatures -1.0 -2.0147 limb undergrowth HPO Gene-Disease Associations 1.0 null Anteverted Nostril DisGeNET Gene-Phenotype Associations 1.0 null sensory system disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null GSE135030_3_v_5_fludarabine_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me1_bone marrow_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K42575648 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.62734 Sensory system disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 oocyte BioGPS Mouse Cell Type and Tissue Gene Expression Profiles 1.0 1.23083 NPHP complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.755 GSE132948,GSE132949_2_v_3_msi2_mouse RummaGEO Gene Perturbation Signatures -1.0 null H3K27ac_Brain Anterior Caudate Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GTEX-WY7C-0226-SM-3NB37 GTEx Tissue Sample Gene Expression Profiles 1.0 0.898432 STAT1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null polydactyly MPO Gene-Phenotype Associations 1.0 null GSE186483_6_v_0_lrrk2_mouse RummaGEO Gene Perturbation Signatures -1.0 null trichostatin A-1637 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null periventricular stratum of r1BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.27467 GTEX-X4EP-3226-SM-3P5YR GTEx Tissue Sample Gene Expression Profiles 1.0 2.95987 Asphyxiating thoracic dystrophy 1 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.089 BRD-K81619018 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.5298 POLR2AphosphoS2_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K64890080_BI-2536_HA1E_24_h_0.37_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE160817_3_v_6_slamf6_human RummaGEO Gene Perturbation Signatures 1.0 null GTEX-RN64-1626-SM-48FD7 GTEx Tissue Sample Gene Expression Profiles 1.0 0.884804 hormones GeneRIF Biological Term Annotations 1.0 null TEF-1 MotifMap Predicted Transcription Factor Targets 1.0 null wortmannin-977 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null skeletal dysplasia HPO Gene-Disease Associations 1.0 null ZBTB33_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null glycopyrronium bromide-3427 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null 5903_NUP93_P1P2 Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures 1.0 2.69538 broad GeneRIF Biological Term Annotations 1.0 null SLC5A2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00513789 GSE96649_1_v_3_dexamethasone_human RummaGEO Drug Perturbation Signatures -1.0 null dorsorostral division of MFC (area 32) Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.979182 LY-294002-1652 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormal viscerocranium morphology MPO Gene-Phenotype Associations 1.0 null RCC4 CCLE Cell Line Gene Expression Profiles 1.0 1.443 GTEX-RWS6-0008-SM-47JYV GTEx Tissue Sample Gene Expression Profiles 1.0 0.955871 BL2604 (PPARGC1B) NURSA Protein Complexes 1.0 null BRD-K56183302 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.10198 Zbtb2 JASPAR Predicted Mouse Transcription Factor Targets 2025 1.0 25.6281 GSE77108_8_v_2_saha_human RummaGEO Drug Perturbation Signatures -1.0 null KLHL25 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 3.24731 GSE180200,GSE180201_5_v_6_qpctl_mouse RummaGEO Gene Perturbation Signatures 1.0 null MYC_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null primary somatosensory cortex (area S1, areas 3,1,2)_12 pcw_F_12835 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.83247 GSE158458_2_v_1_sorafenib_human RummaGEO Drug Perturbation Signatures 1.0 null USF1_A549_hg19_6 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2A_lung_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null USF2_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K9ac_Bone Marrow Derived Mesenchymal Stem Cell Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null terete nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 2.22022 trichostatin A-3312 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_bronchial epithelial cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Vomiting CTD Gene-Disease Associations 1.0 1.06261 Epiphyseal growth plate TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.131 GTEX-XOTO-0526-SM-4B662 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.927579 Retinal pigment epithelium TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.345 beclometasone-3001 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null HCC366 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.88796 GSE89018_12_v_8_cry2_mouse RummaGEO Gene Perturbation Signatures 1.0 null GSE226249_2_v_3_pirfenidone_human RummaGEO Drug Perturbation Signatures 1.0 null Uterine Cervical Neoplasms CTD Gene-Disease Associations 1.0 1.3736 inner dynein arm COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.734666 BRD-A45498368_WYE-125132_HA1E_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null short-rib thoracic dysplasia 6 with or without polydactyly DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.308 embryonic appendage morphogenesis GO Biological Process Annotations 2015 1.0 null CHL-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null short finger HPO Gene-Disease Associations 1.0 null aplasia/hypoplasia of the phalanges of the hand HPO Gene-Disease Associations 1.0 null H3K4me3_Adult Kidney Roadmap Epigenomics Histone Modification Site Profiles 1.0 null POLR2A_heart_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null USF2_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null neoplastic GeneRIF Biological Term Annotations 1.0 null BRD-K71472853 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.35834 dyclonine-7423 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-CJ-4642-01B-01R-1305-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null GTEX-R55G-0006-SM-2TC6O GTEx Tissue Sample Gene Expression Profiles -1.0 -3.14655 syndactyly HPO Gene-Disease Associations 1.0 null DMS153 CCLE Cell Line Gene CNV Profiles -1.0 -1.40248 BRD-K15775306 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.05209 Syndactyly DisGeNET Gene-Disease Associations 1.0 null H3K4me2_Muscle Satellite Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GSE182680,GSE182683_7_v_9_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null vorinostat-1645 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormality of dental structure HPO Gene-Disease Associations 1.0 null Usher syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.526 layer 1 of LOT Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.55345 BRD-K10092312 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.12322 GSE261177_0_v_1_tnfrsf12a_human RummaGEO Gene Perturbation Signatures -1.0 null PMC6887651-Table_1.xlsx-Sheet1-SRY_SRY Rummagene Transcription Factor Associations 2026 1.0 null eye and adnexa disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null Heart Diseases CTD Gene-Disease Associations 1.0 1.5143 aplasia involving bones of the extremities HPO Gene-Disease Associations 1.0 null GSE158834_7_v_4_palmitic acid_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me3_astrocyte of the spinal cord_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BL4675 (DBF4) NURSA Protein Complexes 1.0 null EGI-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null trichostatin A-1284 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K9ac_fibroblast of lung_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null SERPING1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.07989 IMR-32 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.926708 calycanthine-6221 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null r7 part of paragigantocellular nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.46947 NCIH2227 CCLE Cell Line Gene Expression Profiles 1.0 3.04944 NANOGNB CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.49778 cytoskeletal part COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.083919 GSE186440,GSE186443_4_v_5_daxx_human RummaGEO Gene Perturbation Signatures 1.0 null BRD-K15019832 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.90436 Skin Cutaneous Melanoma_SKCM_TCGA-EE-A29P-06A-11R-A18T-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null rectum HPA Tissue Protein Expression Profiles 1.0 1.06804 496100554_FWM_no dementia_no TBI_78_F Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -3.05873 head TISSUES Experimental Tissue Protein Expression Evidence Scores 1.0 0.766457 hsa-miR-626 TargetScan Predicted Nonconserved microRNA Targets 1.0 1.40969 FOXO3-22982991-MACROPHAGES-MOUSE ChEA Transcription Factor Targets 2022 1.0 null EBF1 ENCODE Transcription Factor Targets 1.0 null GTEX-OHPL-0326-SM-33HC8 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.841297 CRCGN016_MCF10A.WT.HP_24H:P24 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.6844 CTCF_GM12867_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2A_bone marrow macrophage_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K9ac_ES-E14_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null GSE129389_0_v_5_tropifexor_mouse RummaGEO Drug Perturbation Signatures -1.0 null TBL1XR1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null TCF7L2 ENCODE Transcription Factor Targets 1.0 null GSE103068_5_v_3_volasertib_human RummaGEO Drug Perturbation Signatures 1.0 null GSE101336_1_v_0_decitabine_mouse RummaGEO Drug Perturbation Signatures 1.0 null Photoreceptor cell cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.518 HAGH LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00762427 PMC10661700-41525_2023_383_MOESM2_ESM.xlsx-Supp_Table7_gnomAD_AMR_GCR-SYMBOL_NR3C1 Rummagene Transcription Factor Associations 2026 1.0 null PMC9602726__F5 PFOCR Pathway Figure Associations 2024 1.0 null imatinib_homo sapiens_gpl96_gds3042 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null tolbutamide-3804 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null cytoplasmic part COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.001795 SK-MES-1 GDSC Cell Line Gene Expression Profiles 1.0 2.39554 GSE252857_1_v_0_klf15_mouse RummaGEO Gene Perturbation Signatures 1.0 null PM20D1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00652605 Outer dynein arm docking complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.7 preoptic BioGPS Mouse Cell Type and Tissue Gene Expression Profiles 1.0 0.868512 SIHA COSMIC Cell Line Gene Mutation Profiles 1.0 null MAFG::NFE2L1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 22.301 MHH-ES-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.975521 Skin Cutaneous Melanoma_SKCM_TCGA-EB-A24D-01A-11R-A18T-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null ATF3_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-U3ZM-0126-SM-3DB8M GTEx Tissue Sample Gene Expression Profiles 1.0 1.02826 BRD-K37019305 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.4316 cone-rod dystrophy 20 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.134 TBP_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null deviation of finger HPO Gene-Disease Associations 1.0 null GSE226249_0_v_1_pirfenidone_human RummaGEO Drug Perturbation Signatures -1.0 null CRCGN017_MCF10A.TP53.M_24H:C23 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.53745 vision/eye phenotype MPO Gene-Phenotype Associations 1.0 null DIFI DepMap CRISPR Gene Dependency 1.0 2.74016 TFEB-21752829-HELA-HUMAN ChEA Transcription Factor Binding Site Profiles 1.0 null H3K9ac_ES-Bruce4_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null CTCF_GM12871_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Sjogren-Larsson Syndrome DisGeNET Gene-Disease Associations 1.0 null Male reproductive system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.226 GTEX-QDVN-0006-SM-48U1R GTEx Tissue Sample Gene Expression Profiles -1.0 -1.61084 abnormal head morphology MPO Gene-Phenotype Associations 1.0 null CRCGN009_HEPG2_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.67976 Necrosis CTD Gene-Disease Associations 1.0 2.04345 MYC_NB4_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-X5EB-2326-SM-46MW5 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.920407 trichostatin A-2268 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null supraoptic nucleus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.875291 DB GDSC Cell Line Gene Expression Profiles 1.0 2.00869 Chloroplast outer membrane COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.861 SG in posterior frontal cortex (motor cortex) Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.991228 A549_Nintedanib_1µM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.0138104 abnormality of the distal phalanx of finger HPO Gene-Disease Associations 1.0 null gland TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.053721 embryogenesis phenotype MPO Gene-Phenotype Associations 1.0 null RAD21_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null LNCAP-CLONE-FGC COSMIC Cell Line Gene Mutation Profiles 1.0 null BRD-K81925504 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.03079 GSE143406_1_v_0_carfilzomib_human RummaGEO Drug Perturbation Signatures 1.0 null GSE158834_10_v_8_palmitic acid_human RummaGEO Drug Perturbation Signatures -1.0 null Prostate adenocarcinoma_PRAD_TCGA-EJ-7789-01A-11R-2118-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Accessory olfactory bulb, glomerular layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.29744 multicellular organismal process GO Biological Process Annotations 2015 1.0 null TBP_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Retinitis pigmentosa 2 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.369 GSE184356_1_v_2_tfam_human RummaGEO Gene Perturbation Signatures -1.0 null STK38L CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.08218 CTCF_GM12866_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE149760_0_v_1_elof1_human RummaGEO Gene Perturbation Signatures 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-DQ-7590-01A-11R-2232-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K35441510 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.01461 496100559_FWM_no dementia_no TBI_87_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -3.18137 GTEX-WL46-0626-SM-3LK7R GTEx Tissue Sample Gene Expression Profiles -1.0 -0.910592 GTEX-WYJK-0005-SM-3NMA1 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.895844 KDM4A_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Microphthalmia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.132 Ciliary basal body COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.592 cilium GO Cellular Component Annotations 2015 1.0 null ZNF384_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE135514_2_v_0_dasatinib_human RummaGEO Drug Perturbation Signatures 1.0 null H2AFZ_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null COPII vesicle coat COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.934 cell projection part GO Cellular Component Annotations 2015 1.0 null GSE150669_2_v_1_roxadustat_mouse RummaGEO Drug Perturbation Signatures 1.0 null arcuate nucleus of the hypothalamus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.556 Broad Distal Phalanx Of Finger DisGeNET Gene-Phenotype Associations 1.0 null GSE111247_11_v_3_temozolomide_human RummaGEO Drug Perturbation Signatures -1.0 null GTEX-X15G-0005-SM-3NMDA GTEx Tissue Sample Gene Expression Profiles -1.0 -2.03275 H3K9ac_IMR90 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Serum Creatinine Raised DisGeNET Gene-Phenotype Associations 1.0 null PMC10602967-18_2023_4927_MOESM3_ESM.xlsx-MBNL1_KD_HFE-145-Unnamed_1_AR Rummagene Transcription Factor Associations 2026 1.0 null Carpenter syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.016 Hyperopia DisGeNET Gene-Phenotype Associations 1.0 null abnormal digit morphology MPO Gene-Phenotype Associations 1.0 null sense organ TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.05956 Prostate adenocarcinoma_PRAD_TCGA-KK-A8IH-01A-11R-A36G-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null retinal degeneration DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null GSE232836_2_v_6_morphine_mouse RummaGEO Drug Perturbation Signatures 1.0 null trichostatin A-6891 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CTCF_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null trichostatin A-6951 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_G1E_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null BRD-K45811188 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.35938 posterior (caudal) superior temporal cortex (area 22c)_3 yrs_M_12980 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.19498 A-Vietnam-1203_CIP048_RG4-2004(H5N1)HAAvirmut_1day-MOI-10^4_None_GSE37572 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 2.02231 VZ in posterior parahippocampal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.944584 BRD-K40985311 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.35362 GSE132694,GSE132717_0_v_2_meis1_human RummaGEO Gene Perturbation Signatures -1.0 null GTEX-UJMC-0005-SM-3GACU GTEx Tissue Sample Gene Expression Profiles -1.0 -1.11242 BRD-K94789179 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.00931 MYBBP1A LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00397568 BHLHE40_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null isoconazole-7211 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CTCF_epithelial cell of proximal tubule_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null SP1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null central nervous system TISSUES Experimental Tissue Protein Expression Evidence Scores 1.0 0.766457 BRD-K81644801 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.95327 BRD-K27178321 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.09348 TWIST1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00637128 Renal Dysplasia And Retinal Aplasia (Disorder) DisGeNET Gene-Disease Associations 1.0 null GSE158458_2_v_3_sorafenib_human RummaGEO Drug Perturbation Signatures 1.0 null Subiculum, dorsal part, stratum radiatum Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.25949 CRCGN015_MCF10A_48H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 4.18026 trichostatin A-5945 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Congenital nervous system abnormality DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.349 cone-rod dystrophy DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.536 Long Narrow Head DisGeNET Gene-Disease Associations 1.0 null vertical nucleus of the diagonal band Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.07039 GTEX-XQ3S-0006-SM-4BOQ4 GTEx Tissue Sample Gene Expression Profiles -1.0 -4.16695 Prostate adenocarcinoma_PRAD_TCGA-EJ-7782-01A-11R-2118-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CCDC62 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00599658 RKO COSMIC Cell Line Gene Mutation Profiles 1.0 null FOXD2 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 41.2184 mantle zone of AHy Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.56412 EP300_SK-N-SH_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-QESD-0526-SM-2I5G5 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.917317 GSE182727_1_v_0_busulfan_mouse RummaGEO Drug Perturbation Signatures -1.0 null dorsal cortical nucleus of inferior colliculus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.48002 H3K4me1_megakaryocyte_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null primary somatosensory cortex (area S1, areas 3,1,2)_2 yrs_F_12979 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.49688 FOXA1_T47D_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null nonmotile primary cilium COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.237908 GTEX-P4PP-2026-SM-3P61N GTEx Tissue Sample Gene Expression Profiles 1.0 1.48404 STK32A LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00643848 embryonic stem no feeder BioGPS Mouse Cell Type and Tissue Gene Expression Profiles -1.0 -1.27672 GSE190186,GSE190188_0_v_10_apoe_mouse RummaGEO Gene Perturbation Signatures 1.0 null Astrocyte_Brain_Mouse CellMarker Gene-Cell Type Associations 1.0 null RCOR1_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null HBL-100 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.19701 abnormal limb development MGI Mouse Phenotype Associations 2023 1.0 null BRD-K34624391 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.21596 Asphyxiating thoracic dystrophy DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 5.0 CTCF_cardiac muscle cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null ventrolateral prefrontal cortex_2 yrs_F_12979 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.49187 SARS-CoV MA15_Day2-PFU-10^4_None_GSE50000 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 1.60625 POLR2A_HepG2_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE220668_0_v_1_ncapg_human RummaGEO Gene Perturbation Signatures 1.0 null ENDOD1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.03923 NFYB_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null PMC10190057-12886_2023_2968_MOESM1_ESM.docx-0-AHR_AHR Rummagene Transcription Factor Associations 2026 1.0 null Brain Lower Grade Glioma_LGG_TCGA-DU-7012-01A-11R-2027-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null lethality throughout fetal growth and development, complete penetrance MGI Mouse Phenotype Associations 2023 1.0 null Abnormal Diaphysis Morphology DisGeNET Gene-Disease Associations 1.0 null PMC3636213-pgen.1003459.s012.xlsx-Sheet1-KD_3_AR Rummagene Transcription Factor Associations 2026 1.0 null H3K9ac_skeletal muscle myoblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-XV7Q-1426-SM-4BRWA GTEx Tissue Sample Gene Expression Profiles 1.0 1.16753 superficial stratum of r7BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.9581 Skin Cutaneous Melanoma_SKCM_TCGA-ER-A3PL-06A-11R-A239-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null artery disease GWASdb SNP-Disease Associations 1.0 0.111004 abnormal premaxilla morphology MGI Mouse Phenotype Associations 2023 1.0 null episupraoptic nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.60947 GSE128844_0_v_2_chloroquine_human RummaGEO Drug Perturbation Signatures 1.0 null Cytoplasmic dynein complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.393 BRD-K97595801 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.28937 abnormality of the pinna HPO Gene-Disease Associations 1.0 null primary auditory cortex (core)_8 yrs_M_12981 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.74204 pancreas_6b HPA Tissue Sample Gene Expression Profiles -1.0 -0.826253 Nervous system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.895 Bladder Urothelial Carcinoma_BLCA_TCGA-G2-A2EF-01A-12R-A18C-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null MAX_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null E2F6_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2A_olfactory bulb_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-R3RS-0526-SM-3GADG GTEx Tissue Sample Gene Expression Profiles -1.0 -0.885442 H3K4me3_Caco-2_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null CHD1_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null IRF3_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null telmisartan_rattus norvegicus_gpl4135_gse29445 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormality of the retinal pigment epithelium HPO Gene-Disease Associations 1.0 null BRD-K23614490 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.30502 naproxen-6794 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me1_fibroblast of dermis_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null abnormality of the nose HPO Gene-Disease Associations 1.0 null abnormal nervous system development MPO Gene-Phenotype Associations 1.0 null BRD-K58275986 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.15673 GSE139455_2_v_3_stat3_human RummaGEO Gene Perturbation Signatures -1.0 null Cranioectodermal dysplasia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 3.458 Streptococcal Lymphadenitis Of Swine DisGeNET Gene-Disease Associations 1.0 null EP300_SK-N-SH_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Ciliary tip COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.899 GTEX-S3XE-0006-SM-3K2AA GTEx Tissue Sample Gene Expression Profiles -1.0 -1.24484 G124 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.856655 GSE193993_5_v_6_sstr2_human RummaGEO Gene Perturbation Signatures 1.0 null Intraciliary transport particle COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 3.431 GSE135514_8_v_3_dasatinib_human RummaGEO Drug Perturbation Signatures 1.0 null CRO-AP3 COSMIC Cell Line Gene Mutation Profiles 1.0 null dysostosis DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.336876 SNU-16 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.37789 BRD-K41207293 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.49751 COLO 320DM Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.05701 Infertility DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.194 ARHGAP33 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.2377 RAD21_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null hippocampus HPA Tissue Protein Expression Profiles -1.0 -0.772898 Nephronophthisis DisGeNET Gene-Disease Associations 1.0 null bethanechol-5539 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CA-68-KG29_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.626975 496100505_TCx_possible Alzheimer's disease_no TBI_90-94_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.29863 G142 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.825366 H3K9ac_MEL cell line_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null CRCGN016_MCF10A.WT.HP_24H:P22 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 4.9468 CRCGN015_MCF10A_48H:L19 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.58335 abnormal frontal bone morphology MPO Gene-Phenotype Associations 1.0 null abnormal thoracic cage morphology MPO Gene-Phenotype Associations 1.0 null PMC7401461-iovs-61-3-10_s001.xlsx-Sheet1-SRY_SRY Rummagene Transcription Factor Associations 2026 1.0 null abnormal bone structure HPO Gene-Disease Associations 1.0 null 4910_MCRS1_P1P2 Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures 1.0 1.07994 abnormal tibia morphology MPO Gene-Phenotype Associations 1.0 null CRCGN013_HEPG2_24H:B23 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.20334 FU97 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.843171 6740_PREB_P1P2 Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures 1.0 1.07916 GSE216273,GSE216292_14_v_8_palbociclib_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me3_Jurkat_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null trichostatin A-6222 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null autosomal dominant disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.214297 GSE247764_1_v_2_nell2_mouse RummaGEO Gene Perturbation Signatures 1.0 null GTEX-RU1J-0006-SM-2TF6M GTEx Tissue Sample Gene Expression Profiles -1.0 -1.05374 GTEX-X638-0005-SM-47JX6 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.969808 PMC12824661-BLOOD_BLD-2024-027020-mmc6.xls-Table_S14-HES4_Up_HES4 Rummagene Transcription Factor Associations 2026 1.0 null BRD-K89537738 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.68829 anterior (rostral) cingulate (medial prefrontal) cortex_8 yrs_M_12981 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -2.35399 Lung adenocarcinoma_LUAD_TCGA-91-6849-11A-01R-1949-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null SP1_HCT116_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN011_HEPG2_24H:P05 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.43255 SW 1990 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.09792 Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-DS-A7WF-01A-11R-A352-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K72636697_QL-X-138_HA1E_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-WYJK-1326-SM-3NB2T GTEx Tissue Sample Gene Expression Profiles 1.0 1.12905 Sigmoid_Colon Roadmap Epigenomics Cell and Tissue Gene Expression Profiles -1.0 -1.71746 abnormality of the retina HPO Gene-Disease Associations 1.0 null BRD-K98637033 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.35839 IZ in lateral temporal-occipital cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.77348 GTEX-X585-0011-R11B-SM-46MUZ GTEx Tissue Sample Gene Expression Profiles 1.0 1.78008 Asphyxiating thoracic dystrophy ClinVar Gene-Phenotype Associations 2025 1.0 null HS852T CCLE Cell Line Gene CNV Profiles 1.0 3.2803 GTEX-WXYG-0226-SM-3NB2Y GTEx Tissue Sample Gene Expression Profiles 1.0 0.936881 Drug-Induced Liver Injury CTD Gene-Disease Associations 1.0 2.07352 ATF2 ENCODE Transcription Factor Targets 1.0 null cystic kidney DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.581606 primary motor cortex (area M1, area 4)_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.30568 H3K4me3_mammary epithelial cell_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null Lung adenocarcinoma_LUAD_TCGA-91-6847-11A-01R-1949-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Hip Dysplasia DisGeNET Gene-Disease Associations 1.0 null SCC-25 GDSC Cell Line Gene Expression Profiles -1.0 -2.3172 H3K4me3_fibroblast of pedal digit skin_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null MAX_K562_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null Coloboma DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.529 BRD-K76215709 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.07384 tissues, cell types and enzyme sources TISSUES Curated Tissue Protein Expression Evidence Scores 2025 1.0 4.0 CTCF_fibroblast of upper leg skin_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K81418486_vorinostat_HT29_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-O5YW-0006-SM-3LK6E GTEx Tissue Sample Gene Expression Profiles -1.0 -1.2555 ergocalciferol-3304 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null vorinostat-5217 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K02230174 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.33529 NCI-H2461 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.970004 Kinesin II complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.607 Dentate gyrus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.28 POLR2A_GM12891_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null 16478745-SuppTable1 GeneSigDB Published Gene Signatures 1.0 null H3K4me3_fibroblast of pulmonary artery_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null TYK-NU.CP-R Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.24473 U266B1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.95429 BL2417 (UBAP2L) NURSA Protein Complexes 1.0 null H3K4me3_cardiac fibroblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Micromelia DisGeNET Gene-Disease Associations 1.0 null PMC12619835-41467_2025_66007_MOESM8_ESM.xlsx-Classical_KLF5_peaks-Gene_Name_1_KLF5 Rummagene Transcription Factor Associations 2026 1.0 null BRD-K26709432 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.13181 CRCGN017_MCF10A.TP53.M_24H:H10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.2689 BRD-K20398543 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.05592 E2F1 ChEA Transcription Factor Targets 1.0 null hsa-miR-505 TargetScan Predicted Nonconserved microRNA Targets 1.0 1.07142 CTCF_brain microvascular endothelial cell_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Prelimbic area, layer 6b Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.07419 SARS-CoV_96Hour_23935999_GSE47960 GEO Signatures of Differentially Expressed Genes for Viral Infections -1.0 -1.55886 AC-97-KP88_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.245633 Lung squamous cell carcinoma_LUSC_TCGA-58-8390-01A-11R-2326-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Intraflagellar transport proteins binding to dynein WikiPathways Pathways 2024 1.0 null COPI vesicle coat COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.981 GTEX-OOBK-1626-SM-2HMKG GTEx Tissue Sample Gene Expression Profiles -1.0 -1.00743 21NT DepMap CRISPR Gene Dependency 1.0 4.3935 abnormal lip morphology MPO Gene-Phenotype Associations 1.0 null Prenatal Exposure Delayed Effects CTD Gene-Disease Associations 1.0 1.59896 anterior (rostral) cingulate (medial prefrontal) cortex_16 pcw_M_12287 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.20572 nonmotile primary cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.575912 GSE201270,GSE201272_5_v_1_mybl2_human RummaGEO Gene Perturbation Signatures 1.0 null RV16_0Hour-B2B_None_GSE28904 GEO Signatures of Differentially Expressed Genes for Viral Infections -1.0 -1.6046 CTCF_MCF-7_hg19_5 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K27ac_HepG2_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null abnormal eye physiology HPO Gene-Disease Associations 1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-AK-3447-01A-01R-1766-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null 3086_FIP1L1_P1P2 Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures 1.0 1.10921 abnormality of the mouth HPO Gene-Disease Associations 1.0 null layer 1 of PrS Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 2.19257 K562_Sirtinol_100nM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.0165388 CDX2-22108803-LS180-HUMAN ChEA Transcription Factor Targets 2022 1.0 null single-organism process GO Biological Process Annotations 2015 1.0 null CTCF_BJ_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null sulfinpyrazone-3192 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null catalytic complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.054653 bone disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.047454 DMS 79 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.10057 hsa-miR-3973 TargetScan Predicted Nonconserved microRNA Targets 1.0 0.880544 IRF3 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 77.8177 BRD-A18328003_GDC-0980_HCC515_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_HEK293_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null t67-small-intestine_consensus MoTrPAC Rat Endurance Exercise Training 1.0 1.42182 CD68 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.00917 DSG2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.10242 EMC-BAC-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null GSE137818_2_v_6_brca2_mouse RummaGEO Gene Perturbation Signatures -1.0 null non-motile cilium GO Cellular Component Annotations 2025 1.0 null GSE198165,GSE198166_8_v_4_zfp266_mouse RummaGEO Gene Perturbation Signatures 1.0 null BRD-A19500257_geldanamycin_HA1E_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_GM06990_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null CRCGN015_MCF10A.WT.HP_24H:K10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.90107 CRCGN015_MCF10A.TP53.M_24H:L09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.4424 GSE48812_0_v_10_sulforaphane_human RummaGEO Drug Perturbation Signatures -1.0 null Myocardial Infarction CTD Gene-Disease Associations 1.0 1.07093 H3K4me3_T-cell acute lymphoblastic leukemia_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GSE134191_3_v_5_metformin_mouse RummaGEO Drug Perturbation Signatures 1.0 null Nucleus of the lateral olfactory tract, molecular layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.24264 GREB1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.03684 facial motor nucleus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.10903 GSE147876,GSE147877_4_v_6_enzalutamide_human RummaGEO Drug Perturbation Signatures 1.0 null HCC38 Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles 1.0 1.33445 BRD-K28937085 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.02539 FetalThyroid BioGPS Human Cell Type and Tissue Gene Expression Profiles 1.0 0.91435 amygdalohippocampal transition zone, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.959136 Perichondrium TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.75 fluphenazine-1577 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null hTERT-RPE1 cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.394 GTEX-T6MN-0526-SM-32PMS GTEx Tissue Sample Gene Expression Profiles -1.0 -0.873603 retinal degeneration DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.683493 doxorubicin_homo sapiens_gpl10558_gse42531 GEO Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K40175214_torin-1_MCF10A_3_h_0.04_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null NTPCR LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00668094 Stereocilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.834 BL5995 (ZNF638) NURSA Protein Complexes 1.0 null broad distal phalanx of finger HPO Gene-Disease Associations 1.0 null streptozocin-6098 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Spinal nucleus of the trigeminal, oral part, rostral dorsomedial part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.12369 medial habenular nucleus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.31792 SW 900 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.48635 smallintestine_4c HPA Tissue Sample Gene Expression Profiles -1.0 -0.9514 BRD-K42805893_HG-14-8-02_HA1E_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Nephronophthisis 18 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.221 BRD-K90127324 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.25535 cell part COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.212974 BRD-K44260904 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.34148 GSE182680,GSE182683_5_v_11_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null BCL6 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 23.1483 macromolecular complex COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 posteroventral (inferior) parietal cortex_19 pcw_F_12885 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.955921 muscle phenotype MPO Gene-Phenotype Associations 1.0 null IPC-298 COSMIC Cell Line Gene Mutation Profiles 1.0 null FOXA1-33576154-HUMAN-LIVER-PROSTATECANCER ChEA Transcription Factor Targets 2022 1.0 null GSE248858_1_v_7_tcpobop_mouse RummaGEO Drug Perturbation Signatures -1.0 null H3K4me3_Caco-2_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null Ciliary membrane COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.636 H3K27ac_brain_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null IRF1 ENCODE Transcription Factor Targets 1.0 null H3K9ac_NT2-D1_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K34664417 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.20133 KPL-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.15694 icSARS CoV_0Hour_23365422_GSE33267 GEO Signatures of Differentially Expressed Genes for Viral Infections -1.0 -1.9433 9+0 non-motile cilium COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 4.0 BRD-K49328571_dasatinib_HS578T_24_h_0.12_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null KIF17 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.28523 SET2 CCLE Cell Line Gene Expression Profiles -1.0 -1.58783 benzbromarone-5015 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null POLR2A_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormal brain development MPO Gene-Phenotype Associations 1.0 null BRD-A19500257_geldanamycin_HT29_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K87781745 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.02954 CTCF_GM10248_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE213588_10_v_13_trametinib_human RummaGEO Drug Perturbation Signatures 1.0 null 9+0 non-motile cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.126 Cataract DisGeNET Gene-Disease Associations 1.0 null GSE184902_4_v_1_adiponectin_mouse RummaGEO Drug Perturbation Signatures -1.0 null GSE221577_4_v_0_pik3r1_human RummaGEO Gene Perturbation Signatures 1.0 null CTCF_fibroblast of gingiva_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null head TISSUES Curated Tissue Protein Expression Evidence Scores 1.0 null GSE125403_7_v_0_venetoclax_human RummaGEO Drug Perturbation Signatures 1.0 null Axonemal central pair COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.327 BRD-K97365803_PI 828_HA1E_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K68364310 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.54007 AIMP1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.18631 GTEX-WWYW-0526-SM-3NB2W GTEx Tissue Sample Gene Expression Profiles -1.0 -1.0165 OE19 GDSC Cell Line Gene Expression Profiles -1.0 -1.85203 BL2492 (PARP10) NURSA Protein Complexes 1.0 null senior-loken syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 1.72319 Cone photoreceptor outer segment COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.742 abnormal secondary palate development MPO Gene-Phenotype Associations 1.0 null GSE175787_5_v_6_rhoc_human RummaGEO Gene Perturbation Signatures 1.0 null CRCGN008_HEPG2_24H:E07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures -1.0 -2.3755 H3K4me2_H1 BMP4 Derived Trophoblast Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Retinitis pigmentosa 87 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.029 abnormality of the forehead HPO Gene-Disease Associations 1.0 null NCI-H2171 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.27447 BRD-K77638937 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.38771 BRD-K63093217 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.41004 SASS6 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 3.35721 primary motor cortex (area M1, area 4)_3 yrs_M_12980 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.00253 GSE210150_0_v_1_crizotinib_human RummaGEO Drug Perturbation Signatures 1.0 null CHD1-19587682-MESC-mouse ChEA Transcription Factor Binding Site Profiles 1.0 null GSE143643,GSE143644_3_v_5_hdac3_mouse RummaGEO Gene Perturbation Signatures -1.0 null H3K27ac_CD14-positive monocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GSE138019_4_v_6_nudt12_mouse RummaGEO Gene Perturbation Signatures 1.0 null SET2 CCLE Cell Line Gene CNV Profiles -1.0 -1.35677 Intraflagellar transport Reactome Pathways 2014 1.0 null CE-96-GH46_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.200392 Cervical canal TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.744 GTEX-WYVS-0006-SM-3NMA7 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.21578 ANKRD9 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.98448 BICR22 CCLE Cell Line Gene CNV Profiles -1.0 -1.67718 abnormality of skeletal morphology HPO Gene-Disease Associations 1.0 null H3K4me1_mammary epithelial cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null CTCF_GM12872_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Nucleus of the lateral olfactory tract, layer 3 Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 2.57921 GTEX-WFG8-0006-SM-3GIKS GTEx Tissue Sample Gene Expression Profiles -1.0 -1.06016 Mesothelioma_MESO_TCGA-MQ-A4LJ-01A-11R-A34F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GSE193993_0_v_7_sstr2_human RummaGEO Gene Perturbation Signatures -1.0 null 496100390_PCx_probable Alzheimer's disease_no TBI_88_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.9399 sin3a_22783022_mcf7_lof_human_gpl570_gds4388 GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations 1.0 0.457551 HCT116_LARGE_INTESTINE CCLE Cell Line Proteomics 1.0 2.07113 globose nucleus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.54168 GTEX-XOT4-0526-SM-4B66O GTEx Tissue Sample Gene Expression Profiles -1.0 -0.881481 pneumonia HPO Gene-Disease Associations 1.0 null BRD-K62085719 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.11318 TBL1XR1_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null NF2 MSigDB Cancer Gene Co-expression Modules 1.0 null CREB3L4 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 24.2197 CRCGN009_HEPG2_24H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.63043 H3K4me3_GM12865_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null abnormality of the rib cage HPO Gene-Disease Associations 1.0 null E2F4_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE195582_2_v_1_pim1_mouse RummaGEO Gene Perturbation Signatures -1.0 null FAM89A LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00440418 SARS-CoV MA15_Day1-PFU-10^5_None_GSE50000 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 1.43176 abnormal nasal morphology HPO Gene-Disease Associations 1.0 null Arsenic CTD Gene-Chemical Interactions 1.0 null trichostatin A-6993 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CEBPB_K562_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-T2IS-0626-SM-32QP6 GTEx Tissue Sample Gene Expression Profiles 1.0 1.1046 BRD-K68336408_Tyrphostin AG 1478_HA1E_24.0_h_56.78_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_HCT116_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K18031793 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.16014 CTCF_fibroblast of lung_hg19_6 ENCODE Transcription Factor Binding Site Profiles 1.0 null HS 852.T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 2.70451 Hyperopia DisGeNET Gene-Disease Associations 1.0 null LP-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.42499 FOS_endothelial cell of umbilical vein_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null IL13RA2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00646686 Uterine leiomyoma_Uterus_GSE2725 GEO Signatures of Differentially Expressed Genes for Diseases -1.0 -1.45458 H3K4me3_megakaryocyte_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null Dynein complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.637 ear morphogenesis GO Biological Process Annotations 2015 1.0 null tissues, cell types and enzyme sources TISSUES Curated Tissue Protein Expression Evidence Scores 1.0 null COV413A Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.32398 KDM5A ENCODE Transcription Factor Targets 1.0 null GSE240027,GSE240030_5_v_2_atrx_mouse RummaGEO Gene Perturbation Signatures -1.0 null GTEX-X4EO-0006-SM-3P5ZF GTEx Tissue Sample Gene Expression Profiles -1.0 -0.951765 GSE105169,GSE105175_0_v_1_dhx36_human RummaGEO Gene Perturbation Signatures 1.0 null BRD-K49042040 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.35573 picotamide-7140 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BICR 22 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.66188 MAX_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN016_MCF10A.WT.HP_24H:F05 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.95331 H3K9ac_fibroblast of dermis_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null growth abnormality HPO Gene-Disease Associations 1.0 null phenotypic abnormality HPO Gene-Disease Associations 1.0 null BRD-K25649596 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.03362 golgi apparatus LOCATE Predicted Protein Localization Annotations 1.0 null GSE217694_3_v_0_pold1_mouse RummaGEO Gene Perturbation Signatures 1.0 null Retinal rod TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.718 prenatal lethality MPO Gene-Phenotype Associations 1.0 null GSE103068_0_v_7_volasertib_human RummaGEO Drug Perturbation Signatures 1.0 null Spermatozoon TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.562 Collecting duct TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.397 hsa-miR-92a-3p MiRTarBase microRNA Targets 1.0 null CTCF_GM12872_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K77139764 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.21613 BRD-K01436366_XMD-1150_HA1E_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null NANOG-21062744-HESC-HUMAN ChEA Transcription Factor Binding Site Profiles 1.0 null PMC6080909-JEM_20171312_TableS1.xlsx-miR-196_predicted-Table_S1_miR-196a_b_predicted_targets_by_PITA_PicTar_TargetScan_and_DIANA_prediction_algorithms_ZFP1 Rummagene Transcription Factor Associations 2026 1.0 null fertilizedegg BioGPS Mouse Cell Type and Tissue Gene Expression Profiles 1.0 1.07371 organelle part COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.32345 RELA ENCODE Transcription Factor Targets 1.0 null Holoprosencephaly DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.263 intermediate stratum of AOB Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.60363 P31-FUJ COSMIC Cell Line Gene Mutation Profiles 1.0 null GSE126463_1_v_2_pomalidomide_human RummaGEO Drug Perturbation Signatures -1.0 null Caov-3 GDSC Cell Line Gene Expression Profiles -1.0 -1.72729 BRD-K95359959 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.41557 GSE185944_2_v_4_pth1r_mouse RummaGEO Gene Perturbation Signatures 1.0 null Neuronal dense core vesicle COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.626 Cutis Laxa DisGeNET Gene-Disease Associations 1.0 null cellular component assembly GO Biological Process Annotations 2025 1.0 null CTCF_LNCaP clone FGC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K27ac_CD4+ CD25- CD45RA+ Naive Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GTEX-PWCY-1326-SM-48TCU GTEx Tissue Sample Gene Expression Profiles 1.0 1.10053 cinnarizine-1558 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null layer 2 of LOT Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.33339 JUND ENCODE Transcription Factor Targets 1.0 null long bone TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.635572 9+2 motile cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.763 eye TISSUES Curated Tissue Protein Expression Evidence Scores 1.0 null Microcephaly DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.037 trichostatin A-7499 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Bladder Urothelial Carcinoma_BLCA_TCGA-BL-A13J-11A-13R-A10U-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-BB-4228-01A-01R-1436-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Neoplasms CTD Gene-Disease Associations 1.0 1.35098 NCI-H889 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.62174 primary auditory cortex (core)_16 pcw_M_12287 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.00585 corpus callosum Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.892735 RT4 CCLE Cell Line Gene Expression Profiles -1.0 -1.5085 plexiform layer of TuPal Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.05817 TBP_MEL cell line_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-G6-A8L8-01A-21R-A37O-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K4me3_myocyte_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null RCOR1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE135030_11_v_2_fludarabine_human RummaGEO Drug Perturbation Signatures 1.0 null MCF7_Pracinostat_10µM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.00647435 cell projection organization GO Biological Process Annotations 2015 1.0 null H3K9ac_keratinocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null FOSL2_SK-N-SH_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null SNU46 CCLE Cell Line Gene CNV Profiles 1.0 1.56732 embryonic morphogenesis GO Biological Process Annotations 2015 1.0 null abnormal respiratory system morphology HPO Gene-Disease Associations 1.0 null GTEX-X3Y1-0006-SM-3P5ZG GTEx Tissue Sample Gene Expression Profiles -1.0 -1.09313 layer V of area 35c Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.43509 ZNF384_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null heart_6b HPA Tissue Sample Gene Expression Profiles -1.0 -0.9486 centriole COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.25547 Skin Cutaneous Melanoma_SKCM_TCGA-EE-A3AD-06A-11R-A18S-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Short Distal Phalanx DisGeNET Gene-Phenotype Associations 1.0 null Tooth agenesis DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.453 striatum_30 yrs_F_12290 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -0.959117 Broad Phalanx Of The Toes DisGeNET Gene-Phenotype Associations 1.0 null HD-51-KD29_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.232973 GSE154074_5_v_0_bleomycin_mouse RummaGEO Drug Perturbation Signatures -1.0 null MOLT-4 COSMIC Cell Line Gene Mutation Profiles 1.0 null PMC11214527-mmc5.xlsx-POU5F1-gene_POU5F1 Rummagene Transcription Factor Associations 2026 1.0 null MAZ_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-RWSA-0726-SM-2XCBE GTEx Tissue Sample Gene Expression Profiles -1.0 -1.24881 GTEX-WK11-0006-SM-3NB3J GTEx Tissue Sample Gene Expression Profiles -1.0 -1.08706 HCC70 CCLE Cell Line Gene Expression Profiles -1.0 -1.87673 primary visual cortex (striate cortex, area V1/17)_16 pcw_M_12837 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.04269 17555561-Table1 GeneSigDB Published Gene Signatures 1.0 null NCI-N417 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.05701 BRD-U68942961_-666_SKB_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K00423214 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.47382 amiodarone-3296 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GTEX-WOFM-1626-SM-3MJFX GTEx Tissue Sample Gene Expression Profiles 1.0 1.17212 Brain disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.639 H3K4me3_fibroblast of lung_hg19_6 ENCODE Histone Modification Site Profiles 1.0 null Jeune thoracic dystrophy ClinVar Gene-Phenotype Associations 2025 1.0 null SK-UT-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null r5 part of basomedial reticular formation Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.16414 CCC5 DepMap CRISPR Gene Dependency 1.0 4.33008 Renal epithelial cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.314 H3K4me1_Duodenum Mucosa Roadmap Epigenomics Histone Modification Site Profiles 1.0 null HCC95_LUNG CCLE Cell Line Proteomics 1.0 5.39536 hsf1_19179333_rko_colon_carcinoma_lof_human_gpl6244_gse12762 GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations -1.0 -0.014162 phthalylsulfathiazole-4653 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null 496100611_FWM_no dementia_no TBI_84_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.89144 nonmotile primary cilium GO Cellular Component Annotations 2015 1.0 null GTEX-S32W-1226-SM-4AD67 GTEx Tissue Sample Gene Expression Profiles 1.0 1.40932 BRD-K09137343 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.16932 Autosomal genetic disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.313 KP3 CCLE Cell Line Gene CNV Profiles 1.0 1.56099 Camurati-Engelmann Syndrome DisGeNET Gene-Disease Associations 1.0 null GSE233679_5_v_3_nicotinamide_human RummaGEO Drug Perturbation Signatures -1.0 null anatomical structure morphogenesis GO Biological Process Annotations 2015 1.0 null endometrium_8b HPA Tissue Sample Gene Expression Profiles 1.0 1.20785 t59-kidney_consensus MoTrPAC Rat Endurance Exercise Training 1.0 1.74249 dorsolateral prefrontal cortex_2 yrs_F_12979 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.15337 cuneus, right, peristriate Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.915048 Kidney renal clear cell carcinoma_KIRC_TCGA-B0-4714-01A-01R-1277-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K4me3_limb_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null abnormality of the integument HPO Gene-Disease Associations 1.0 null EE-03-SG02_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.458041 BBSome COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.709 Keratosis Follicularis DisGeNET Gene-Disease Associations 1.0 null Inflammation CTD Gene-Disease Associations 1.0 1.95209 HCC38 DepMap CRISPR Gene Dependency 1.0 5.1878 cell COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 BCPAP CCLE Cell Line Gene Expression Profiles 1.0 1.50898 Autosomal dominant polycystic kidney disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.92 ciliary part GO Cellular Component Annotations 2015 1.0 null AD-16-HL96_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.325696 GSE151412_2_v_1_sorafenib_human RummaGEO Drug Perturbation Signatures -1.0 null CRCGN015_HEPG2_48H:K10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.10742 GTEX-QDT8-0006-SM-32PL3 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.906237 CPC-N Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.58737 Sarcoma_SARC_TCGA-FX-A76Y-01A-11R-A355-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Bronchopulmonary dysplasia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.401 carbinoxamine-7138 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE125403_7_v_6_venetoclax_human RummaGEO Drug Perturbation Signatures 1.0 null outer CP in caudal perirhinal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -2.21026 H3K4me3_HeLa-S3_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null OUMS-23 COSMIC Cell Line Gene Mutation Profiles 1.0 null Disease of anatomical entity DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 GTEX-P4QR-0006-SM-2I5GN GTEx Tissue Sample Gene Expression Profiles -1.0 -1.64297 small maxilla MPO Gene-Phenotype Associations 1.0 null ticarcillin-7185 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null PUS7 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00664781 BRD-A03668899 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.59524 H3K4me2_T-cell acute lymphoblastic leukemia_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null POLR2A_GM18505_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K90294313 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.04283 Musculoskeletal system disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 5.0 CRCGN016_MCF10A.TP53.M_24H:C22 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 4.37014 Neuroepithelial cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.9 BRD-K21997380 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.23849 GTEX-X4XX-2926-SM-3NMB1 GTEx Tissue Sample Gene Expression Profiles 1.0 0.881641 HCC4017 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.53721 USF1_SK-N-SH_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE96649_1_v_2_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null PPIL1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00537385 protein localization to cilium GO Biological Process Annotations 2025 1.0 null ventrolateral prefrontal cortex_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.80315 NCI-H1666 COSMIC Cell Line Gene Mutation Profiles 1.0 null BRD-K67868012_PI-103_HME1_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-TKQ1-1326-SM-4DXU7 GTEx Tissue Sample Gene Expression Profiles 1.0 0.839361 abnormality of pelvic girdle bone morphology HPO Gene-Disease Associations 1.0 null CRCGN017_MCF10A.WT.HP_24H:G12 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.8039 Leber congenital amaurosis DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.847 TT CCLE Cell Line Gene CNV Profiles -1.0 -1.37443 BRD-A36171447 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.29723 GSE229973_3_v_7_cisplatin_human RummaGEO Drug Perturbation Signatures -1.0 null cataract HPO Gene-Disease Associations 1.0 null PMC6138936-13059_2018_1512_MOESM2_ESM.xlsx-SE_H1-_MSC-Gene-symbol_MSC Rummagene Transcription Factor Associations 2026 1.0 null CTCF_foreskin fibroblast_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE205729,GSE205731_2_v_3_tazemetostat_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me3_Brain Hippocampus Middle Roadmap Epigenomics Histone Modification Site Profiles 1.0 null RCOR1 ENCODE Transcription Factor Targets 1.0 null PMC8306115__F3 PFOCR Pathway Figure Associations 2024 1.0 null HCC1263 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.75043 CA SKI Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null HDQP1_BREAST CCLE Cell Line Proteomics 1.0 2.08849 NCR3 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00552909 genetic disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null SNU-81 COSMIC Cell Line Gene Mutation Profiles 1.0 null OR2L3 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.0063543 H3K36me3_MEL cell line_mm9_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null ELF1 ENCODE Transcription Factor Targets 1.0 null taurodontia HPO Gene-Disease Associations 1.0 null GTEX-N7MT-0007-SM-3GACQ GTEx Tissue Sample Gene Expression Profiles -1.0 -0.999001 GSE158834_1_v_5_palmitic acid_human RummaGEO Drug Perturbation Signatures -1.0 null H3K27ac_Brain Mid Frontal Lobe Roadmap Epigenomics Histone Modification Site Profiles 1.0 null BRD-K53548223 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.01603 respiratory system TISSUES Curated Tissue Protein Expression Evidence Scores 1.0 null GTEX-S7SF-1326-SM-4AD4P GTEx Tissue Sample Gene Expression Profiles 1.0 1.66946 GSE154074_5_v_4_bleomycin_mouse RummaGEO Drug Perturbation Signatures -1.0 null GSE76425_0_v_12_lenalidomide_human RummaGEO Drug Perturbation Signatures 1.0 null Eye degenerative disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 5.0 CTCF_GM12864_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null TE-11 GDSC Cell Line Gene Expression Profiles -1.0 -2.59336 GSE240258_0_v_1_prmt1_human RummaGEO Gene Perturbation Signatures -1.0 null SIN3A_Panc1_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-QEL4-0726-SM-3GIJ5 GTEx Tissue Sample Gene Expression Profiles 1.0 1.71905 abnormal hair quantity HPO Gene-Disease Associations 1.0 null abnormal mandible morphology MPO Gene-Phenotype Associations 1.0 null GSE232631_5_v_1_brca2_mouse RummaGEO Gene Perturbation Signatures -1.0 null FOXA1_HepG2_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE233679_5_v_9_nicotinamide_human RummaGEO Drug Perturbation Signatures -1.0 null trichostatin A-2694 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null SCLC-22H Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.860361 sensory organ morphogenesis GO Biological Process Annotations 2015 1.0 null OVCAR-8 COSMIC Cell Line Gene Mutation Profiles 1.0 null CTCF_pancreas_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null cytoskeleton GO Cellular Component Annotations 2015 1.0 null COV413B Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.17503 H3K4me3_CH12.LX_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-KU-A66S-01A-21R-A30B-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K23427500 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.19702 GTEX-PWO3-0011-R6A-SM-2I5F3 GTEx Tissue Sample Gene Expression Profiles 1.0 0.929067 TEAD4_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null skeletalmuscle_a HPA Tissue Sample Gene Expression Profiles -1.0 -2.2071 LY 344864 DeepCoverMOA Drug Mechanisms of Action 1.0 0.34 GSE213588_9_v_2_trametinib_human RummaGEO Drug Perturbation Signatures 1.0 null CTCF_fibroblast of lung_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormality of the outer ear HPO Gene-Disease Associations 1.0 null GSE158834_7_v_3_palmitic acid_human RummaGEO Drug Perturbation Signatures 1.0 null TAF1_ECC-1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null IGF1_OE_GDS3484_542_human_MCF-7 GEO Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 null MDA-MB-415 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.973333 Prostate adenocarcinoma_PRAD_TCGA-V1-A8WW-01A-11R-A37L-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null polymorphic layer of caudal subiculum Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.48641 AD-51-FB60_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.522434 ELK1_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null trichostatin A-3227 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CRCGN017_MCF10A.WT.HP_24H:K08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 6.0585 GTEX-R55E-0526-SM-2TC6B GTEx Tissue Sample Gene Expression Profiles -1.0 -1.06564 Septin cytoskeleton COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.506 imatinib_homo sapiens_gpl96_gds3043 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null C1orf198 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.30874 GTEX-XAJ8-0006-SM-46MVM GTEx Tissue Sample Gene Expression Profiles -1.0 -1.70564 GSE202434,GSE202438_4_v_5_talazoparib_human RummaGEO Drug Perturbation Signatures 1.0 null Sarcoma_SARC_TCGA-DX-A3LW-01A-21R-A21T-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K88836117 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.36379 BRD-K26924781 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.23061 GTEX-XBED-0126-SM-47JY7 GTEx Tissue Sample Gene Expression Profiles 1.0 2.05553 Anencephaly DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.017 prominent occiput HPO Gene-Disease Associations 1.0 null CUX1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null lingual gyrus, left, striate Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.985598 r2 part of trigeminal sensory column Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.1037 Cranioectodermal dysplasia ClinVar Gene-Phenotype Associations 2025 1.0 null H3K27me3_erythroblast_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null 17952126-SuppTable1 GeneSigDB Published Gene Signatures 1.0 null RFX5 ENCODE Transcription Factor Targets 1.0 null BRD-K77591784 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.0398 NCIH1781 CCLE Cell Line Gene CNV Profiles -1.0 -2.28665 H3K4me3_HEK293_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null BRD-A45498368_WYE-125132_HA1E_24_h_0.12_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE114883_1_v_4_romidepsin_human RummaGEO Drug Perturbation Signatures 1.0 null abnormality of the lung HPO Gene-Disease Associations 1.0 null abnormality of the fundus HPO Gene-Disease Associations 1.0 null Retinal pigment epithelium cell line TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.082 Spermatogenic failure 9 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.307 posteroventral (inferior) parietal cortex_8 yrs_M_12981 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.10084 CTCF_HepG2_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null SYK_druginhibition_155_GSE34176 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 1.83326 BRD-K00337317_NU-7441_HCC515_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Bardet-Biedl syndrome 1 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.008 Paraventricular hypothalamic nucleus, magnocellular division, posterior magnocellular part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.17779 Anorexia CTD Gene-Disease Associations 1.0 1.12048 RAPGEF3 Pathway Commons Protein-Protein Interactions 1.0 null CTCF_keratinocyte_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Alstrom syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.102 GSE147876,GSE147877_2_v_6_enzalutamide_human RummaGEO Drug Perturbation Signatures 1.0 null split sternum MGI Mouse Phenotype Associations 2023 1.0 null primary auditory cortex (core)_19 pcw_F_12885 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.922757 UWB1_289 COSMIC Cell Line Gene Mutation Profiles 1.0 null Photoreceptor inner segment COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.833 tretinoin-6931 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null PSKH2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00582766 H3K4me3_Panc1_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null EGR1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Brain Lower Grade Glioma_LGG_TCGA-HT-7680-01A-11R-2256-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null hearing/vestibular/ear phenotype MPO Gene-Phenotype Associations 1.0 null PMC10528072-NIHMS1928302-supplement-5.xlsx-ASCL1-target_genes-ABAT_ASCL1 Rummagene Transcription Factor Associations 2026 1.0 null hsa-miR-561 TargetScan Predicted Nonconserved microRNA Targets 1.0 1.99187 Prestwick-983-6520 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GTEX-T6MO-0226-SM-32QOL GTEx Tissue Sample Gene Expression Profiles 1.0 1.05781 MAFK_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN015_MCF10A_48H:C20 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.0159 PMC12494973-41467_2025_63880_MOESM1_ESM.pdf-150-RFX8_RFX8 Rummagene Transcription Factor Associations 2026 1.0 null H3K27ac_skeletal muscle myoblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null PMC6357748-aau9223_Table_S1.xlsx-CD4_T_-_LPS-Unnamed_0_IRF6 Rummagene Transcription Factor Associations 2026 1.0 null GSX1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 12.7031 HL60 BioGPS Cell Line Gene Expression Profiles 1.0 1.20792 laterostriatal stripe Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.90448 mesoderm TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.081262 BRD-K05939258 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.31878 BRD-K81779733 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.50053 short-rib thoracic dysplasia 9 with or without polydactyly DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.235 BRD-A07214340 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.214 embryonic lethality during organogenesis, complete penetrance MGI Mouse Phenotype Associations 2023 1.0 null BRD-A57107094_2326-3228_PC3_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Liver Diseases CTD Gene-Disease Associations 1.0 1.55353 CTCF_BE2C_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null posterior (caudal) superior temporal cortex (area 22c)_4 mos_M_12890 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -0.848777 NR2C2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00664063 H3K4me3_epithelial cell of esophagus_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null short mandible MGI Mouse Phenotype Associations 2023 1.0 null GSE169152_5_v_7_ibrutinib_human RummaGEO Drug Perturbation Signatures 1.0 null MAFK_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null testis BioGPS Mouse Cell Type and Tissue Gene Expression Profiles 1.0 1.46784 GSE236437_2_v_3_aldosterone_human RummaGEO Drug Perturbation Signatures -1.0 null PMC6904118-NIHMS1544763-supplement-5.xlsx-MYB_Individual-MYB_sgRNA-4_MYB Rummagene Transcription Factor Associations 2026 1.0 null abnormality of bone mineral density HPO Gene-Disease Associations 1.0 null BRD-K46149271 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.54583 inner SZ in midlateral temporal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.929405 sensory system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.377031 SW403 CCLE Cell Line Gene Expression Profiles -1.0 -2.00299 GSE224556,GSE224557_6_v_1_aire_mouse RummaGEO Gene Perturbation Signatures 1.0 null BRD-K30105551 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.09298 GTEX-XBEC-0006-SM-4AT5T GTEx Tissue Sample Gene Expression Profiles -1.0 -2.12278 abnormality of toe HPO Gene-Disease Associations 1.0 null GSE148692,GSE148695_7_v_3_satb2_mouse RummaGEO Gene Perturbation Signatures -1.0 null BRD-K74971765 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.14387 Synaptic ribbon COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.531 POLR2AphosphoS5_MEL cell line_mm9_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K90163297 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.58395 GTEX-TMMY-1726-SM-4DXTD GTEx Tissue Sample Gene Expression Profiles 1.0 1.71337 PMC4634137-ncomms9549-s7.xlsx-ZF_Hair_cell_data-Unnamed_1_CREBZF Rummagene Transcription Factor Associations 2026 1.0 null trichostatin A-1212 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Brain_Germinal_Matrix Roadmap Epigenomics Cell and Tissue Gene Expression Profiles 1.0 1.22595 abnormal palate morphology MPO Gene-Phenotype Associations 1.0 null Depressive Disorder CTD Gene-Disease Associations 1.0 1.12771 L-363 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.00319 HNF4A Pathway Commons Protein-Protein Interactions 1.0 null thiocolchicoside-5520 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K50291875 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.24277 GTEX-NPJ7-0006-SM-3GACR GTEx Tissue Sample Gene Expression Profiles -1.0 -1.44396 retrohypothalamic nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.0674 FOXA1_HepG2_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-QK-A6V9-01A-11R-A34R-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CTCF_GM12891_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Nucleus of the lateral olfactory tract, pyramidal layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.94815 GSE168797_1_v_0_cannabidiol_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me1_placenta_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null split sternum MPO Gene-Phenotype Associations 1.0 null ciliary tip GO Cellular Component Annotations 2015 1.0 null GTEX-WOFM-0005-SM-3MJF3 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.12866 layer 6a of PrS Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.51693 BRD-K07484899 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.16165 BRD-K41026056 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.99293 GSE213588_8_v_3_trametinib_human RummaGEO Drug Perturbation Signatures 1.0 null LSM1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.03136 TT COSMIC Cell Line Gene Mutation Profiles 1.0 null GSE198165,GSE198166_5_v_11_zfp266_mouse RummaGEO Gene Perturbation Signatures -1.0 null HS 852.T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.33948 Cortical amygdalar area, anterior part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.80734 U87 BioGPS Cell Line Gene Expression Profiles 1.0 0.950116 GTEX-WY7C-0006-SM-3NB3L GTEx Tissue Sample Gene Expression Profiles -1.0 -1.44128 FOS_MCF 10A_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE135030_11_v_7_fludarabine_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K35369722 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.52353 H3K4me3_K562_hg19_4 ENCODE Histone Modification Site Profiles 1.0 null Physical disorder DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 GTEX-X4EP-0005-SM-3P5ZE GTEx Tissue Sample Gene Expression Profiles -1.0 -2.20851 racecadotril-6231 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE166315_5_v_0_docetaxel_mouse RummaGEO Drug Perturbation Signatures 1.0 null 18425577-TableS3b GeneSigDB Published Gene Signatures 1.0 null trichostatin A-1306 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null exencephaly MGI Mouse Phenotype Associations 2023 1.0 null H3K4me3_megakaryocyte_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null molindone-4784 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null HEP-2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.04407 BRD-K29460044 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.08186 WT1_01_08 KnockTF Gene Expression Profiles with Transcription Factor Perturbations 1.0 0.77648 GSE183113_1_v_0_sorafenib_human RummaGEO Drug Perturbation Signatures -1.0 null SHSY5Y CCLE Cell Line Gene Expression Profiles 1.0 1.40481 GTEX-PWOO-2326-SM-2S1PQ GTEx Tissue Sample Gene Expression Profiles -1.0 -0.841669 A3KAW DepMap CRISPR Gene Dependency 1.0 2.97461 abnormality of the posterior segment of the eye HPO Gene-Disease Associations 1.0 null cutaneous finger syndactyly HPO Gene-Disease Associations 1.0 null rimexolone-5517 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null placenta HPA Tissue Protein Expression Profiles 1.0 1.06804 DU-4475 COSMIC Cell Line Gene Mutation Profiles 1.0 null MAZ_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K76980944 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.05488 globus pallidus, external segment, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.33686 hydrocortisone-6684 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null VZ in medial temporal-occipital cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.12628 H3K4me3_cardiac fibroblast_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null PMC3923219-mmc2.xls-Table_S1-Table_S1_Differential_Gene_Expression_in_GFP-PRDM1_transduced_H9_hESCs_PRDM1 Rummagene Transcription Factor Associations 2026 1.0 null single-organism developmental process GO Biological Process Annotations 2015 1.0 null CRCGN015_MCF10A_48H:L01 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.1591 short foot HPO Gene-Disease Associations 1.0 null CDX2 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 18.4358 GTEX-OXRK-0006-SM-2HML1 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.9731 SREBF2 JASPAR Predicted Transcription Factor Targets 1.0 null intercalated nucleus of medulla Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.07637 PLPBP LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00505466 BRD-K67868012_PI-103_HA1E_24_h_3.33_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null RAD21_SK-N-SH_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null SP4 ENCODE Transcription Factor Targets 1.0 null Liver hepatocellular carcinoma_LIHC_TCGA-BC-A217-01A-11R-A155-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-WVLH-0626-SM-3MJG7 GTEx Tissue Sample Gene Expression Profiles 1.0 1.06698 H3K4me2_keratinocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null animal TISSUES Curated Tissue Protein Expression Evidence Scores 1.0 null Distal tip TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.777 GTEX-NL3H-0006-SM-2I3FW GTEx Tissue Sample Gene Expression Profiles -1.0 -1.57928 BRD-K46620987 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.01496 Syndrome DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 CTCF_WI38_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K01360791 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.49898 CTCF_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null MDAMB134VI CCLE Cell Line Gene Expression Profiles 1.0 1.89068 GTEX-NL4W-0006-SM-2I3GH GTEx Tissue Sample Gene Expression Profiles -1.0 -2.82985 BRD-K69879051 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.53633 protein complex GO Cellular Component Annotations 2015 1.0 null hesperetin-1947 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-QDVJ-0226-SM-2I5FV GTEx Tissue Sample Gene Expression Profiles 1.0 0.905618 H3K4me3_G1E_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null POLR2A_GM18951_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_erythroblast_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null RCOR1_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K00744507 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.31838 H3K4me3_CD14-positive monocyte_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null GTEX-T5JC-0005-SM-4DM7B GTEx Tissue Sample Gene Expression Profiles -1.0 -1.53291 Sarcoma_SARC_TCGA-DX-A6YS-01A-12R-A355-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-98-A53H-01A-12R-A262-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Nephronophthisis DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.955 Sparse Hair DisGeNET Gene-Phenotype Associations 1.0 null CRCGN013_HEPG2_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.18665 POLR2A_ECC-1_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Flagella connector COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.894 CTCF_A549_hg19_7 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K09863466 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.35628 Kidney renal clear cell carcinoma_KIRC_TCGA-BP-4973-01A-01R-1334-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Reproductive system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.304 MS-275-7074 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Centrosome COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.922 HSD17B12 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.06089 VZ in septal region Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 2.27313 GTEX-X8HC-0006-SM-46MV6 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.205 GSE228017_0_v_1_parthenolide_human RummaGEO Drug Perturbation Signatures -1.0 null GLI-SUFU complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.839 GTEX-WHPG-0826-SM-3NMBF GTEx Tissue Sample Gene Expression Profiles -1.0 -0.863286 GTEX-POMQ-0006-SM-33HBY GTEx Tissue Sample Gene Expression Profiles -1.0 -1.07363 Tubulointerstitium TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.197 icSARA deltaORF6_0Hour_23365422_GSE33267 GEO Signatures of Differentially Expressed Genes for Viral Infections -1.0 -1.76712 Kidney renal papillary cell carcinoma_KIRP_TCGA-B1-A47N-01A-11R-A24Z-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K88378636_withaferin-a_HT29_24_h_0.04_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Rootlet TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.26 Acute Myeloid Leukemia_LAML_TCGA-AB-2993-03A-01T-0735-13 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K9ac_H1-hESC_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_B cell_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null GTEX-XMD1-0011-R11A-SM-4AT5J GTEx Tissue Sample Gene Expression Profiles 1.0 1.48177 Hedgehog 'off' state Reactome Pathways 2014 1.0 null GSE226115,GSE226116_2_v_0_doxorubicin_human RummaGEO Drug Perturbation Signatures 1.0 null CRCGN017_MCF10A.TP53.M_24H:L20 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.13159 GSE138672_0_v_1_rabgef1_mouse RummaGEO Gene Perturbation Signatures 1.0 null intermediate stratum of r5BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.44904 CUX1 ENCODE Transcription Factor Targets 1.0 null Lung adenocarcinoma_LUAD_TCGA-55-6984-11A-01R-1949-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K74568352 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.55363 H3K4me3_epithelial cell of esophagus_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Short Foot DisGeNET Gene-Phenotype Associations 1.0 null abnormal skeleton physiology MPO Gene-Phenotype Associations 1.0 null ventricular (matrix) zone of pons Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 3.32957 BRD-K91952416 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.65396 GTEX-RWS6-0626-SM-2XCAS GTEx Tissue Sample Gene Expression Profiles 1.0 1.65311 thoracic hypoplasia HPO Gene-Disease Associations 1.0 null BRD-K15378071 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.13861 POLR2A_GM12892_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null NB13 GDSC Cell Line Gene Expression Profiles 1.0 2.00791 GTEX-T5JW-0426-SM-4DM7M GTEx Tissue Sample Gene Expression Profiles 1.0 1.09116 GTEX-S7SF-0226-SM-3K2BI GTEx Tissue Sample Gene Expression Profiles 1.0 1.34423 cilium assembly GO Biological Process Annotations 2025 1.0 null GSE186440,GSE186443_2_v_5_daxx_human RummaGEO Gene Perturbation Signatures 1.0 null nephronophthisis DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null TCC-PAN2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -2.48539 intraciliary retrograde transport GO Biological Process Annotations 2025 1.0 null BRD-K41241300 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.14762 GSE249544,GSE249637_9_v_5_temozolomide_human RummaGEO Drug Perturbation Signatures -1.0 null CAPAN-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.04333 CRCGN016_MCF10A.TP53.M_24H:O21 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.01261 ERP27 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00455497 CRCGN015_MCF10A.TP53.M_24H:L19 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.0727 Cortical amygdalar area, anterior part, layer 2 Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 2.0368 H3K9ac_Brain Inferior Temporal Lobe Roadmap Epigenomics Histone Modification Site Profiles 1.0 null H3K4me3_WI38_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null GSE158715_2_v_4_cyp1b1_mouse RummaGEO Gene Perturbation Signatures 1.0 null GTEX-PSDG-0726-SM-2I5FN GTEx Tissue Sample Gene Expression Profiles 1.0 1.9229 Kidney renal clear cell carcinoma_KIRC_TCGA-B8-A54F-01A-11R-A266-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Clorgiline DeepCoverMOA Drug Mechanisms of Action -1.0 -0.38 TFEB-21752829-HELA-HUMAN ChEA Transcription Factor Targets 2022 1.0 null Infertility, Male CTD Gene-Disease Associations 1.0 1.22112 POLR2A_ES-Bruce4_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null radial deviation of finger HPO Gene-Disease Associations 1.0 null CRCGN015_MCF10A_48H:G06 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.44498 epithelium GeneRIF Biological Term Annotations 1.0 null CRCGN016_MCF10A.WT.HP_24H:C22 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 5.93722 HCC70 DepMap CRISPR Gene Dependency 1.0 5.78477 GTEX-NFK9-0426-SM-2YUNK GTEx Tissue Sample Gene Expression Profiles 1.0 1.21175 animal TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.236627 H2AFZ_myotube_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Renal dysplasia and retinal aplasia ClinVar Gene-Phenotype Associations 2025 1.0 null BRD-K82432417 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.24079 GTEX-P78B-2526-SM-3P5ZY GTEx Tissue Sample Gene Expression Profiles 1.0 1.00934 MXI1_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null SP1_HCT116_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null DDX1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.79841 eye and adnexa disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.39598 Neural cord TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.769 HCC1395 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.943914 BHLHE40_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null NCI-H23 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.53596 GSE171401_1_v_0_adnp_mouse RummaGEO Gene Perturbation Signatures -1.0 null HCC1428 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.21762 H3K4me1_Chondrocytes from Bone Marrow Derived Mesenchymal Stem Cell Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GTPBP2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00528857 pyrazinamide_mus musculus_gpl6246_gse48027 GEO Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE126463_5_v_3_pomalidomide_human RummaGEO Drug Perturbation Signatures 1.0 null GTEX-R55C-0005-SM-3GAE9 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.80177 DAN-G Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.832145 H3K4me1_cortical plate_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null Perturb_10382_KO_Zeb2_SRP261907 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -1.30943 HCFC1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null HCC2218 GDSC Cell Line Gene Expression Profiles -1.0 -1.86497 abnormal vertebrae morphology MGI Mouse Phenotype Associations 2023 1.0 null GSE207863_0_v_1_hdac5_human RummaGEO Gene Perturbation Signatures 1.0 null H3K4me3_Panc1_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null TBL1XR1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null amygdaloid complex_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.36688 anterior (rostral) cingulate (medial prefrontal) cortex_37 yrs_M_12303 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.97943 GC-04-UF36_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.227469 Weight Gain CTD Gene-Disease Associations 1.0 1.09226 H3K4me3_CH12.LX_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null MAPK1_knockdown_131_GSE31534 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 1.41761 BRD-K34620971 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.53576 Perturb_16739_KO_Gcn5_SRP271119 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -3.47399 aplasia/hypoplasia involving bones of the feet HPO Gene-Disease Associations 1.0 null Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-FU-A3TX-01A-11R-A22U-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null FOXA2_HepG2_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE173262_2_v_0_ash1l_mouse RummaGEO Gene Perturbation Signatures -1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-CZ-5463-01A-01R-1503-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null endocrine gland TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.055047 Lung adenocarcinoma_LUAD_TCGA-55-8094-01A-11R-2241-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CBX3_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null PMC12125067-10157_2025_2629_MOESM3_ESM.docx-0-TBX18_TBX18 Rummagene Transcription Factor Associations 2026 1.0 null kidney disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.184424 abnormality of the hip bone HPO Gene-Disease Associations 1.0 null Lung Diseases CTD Gene-Disease Associations 1.0 1.3231 Disease of mental health DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.388 Thap11 JASPAR Predicted Mouse Transcription Factor Targets 2025 1.0 25.8364 CEBPA-20513432-MACROPHAGES-MOUSE ChEA Transcription Factor Targets 2022 1.0 null POU2F2_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null intracellular COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 intracellular non-membrane-bounded organelle COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.055353 POLR2A_thymus_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE180185_9_v_8_setbp1_human RummaGEO Gene Perturbation Signatures 1.0 null testis HPA Tissue Protein Expression Profiles -1.0 -0.772898 GSE229978_4_v_1_morphine_mouse RummaGEO Drug Perturbation Signatures 1.0 null AC-74-ZA35_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.212139 CTDSPL2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.01617 alpha-CP1 MotifMap Predicted Transcription Factor Targets 1.0 null abnormal dermomyotome development MGI Mouse Phenotype Associations 2023 1.0 null KMM-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.887274 Craniosynostosis DisGeNET Gene-Disease Associations 1.0 null MKN-7 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.865148 temporal muscle trigeminal motor cell group Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.4367 CCNT2_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null hypotelorism HPO Gene-Disease Associations 1.0 null H3K4me3_CD8 Memory Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GSE192663_3_v_2_acly_mouse RummaGEO Gene Perturbation Signatures 1.0 null BRD-K66207462 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.17341 GSE205730,GSE205731_2_v_0_tazemetostat_human RummaGEO Drug Perturbation Signatures 1.0 null KMS-12-PE Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.02213 FB-66-UU47_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.288648 ovary HPA Tissue Gene Expression Profiles 1.0 1.03987 Periciliary membrane compartment COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.282 GTEX-SUCS-0006-SM-4DM59 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.6317 H3K4me3_fibroblast of skin of abdomen_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null MYT1L_01_264 KnockTF Gene Expression Profiles with Transcription Factor Perturbations -1.0 -0.61373 PMC12902236-mmc6.pdf-26-ZNF555_ZNF555 Rummagene Transcription Factor Associations 2026 1.0 null cytoplasmic dynein complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.182573 GSE173262_6_v_0_ash1l_mouse RummaGEO Gene Perturbation Signatures -1.0 null posterodorsal tegmental nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.90491 hippocampus (hippocampal formation)_37 yrs_M_12303 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.07053 Perturb_16928_KO_Fam13a_SRP220671 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -1.68526 GSE173810_0_v_3_igf2_mouse RummaGEO Gene Perturbation Signatures -1.0 null End stage renal disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.852 Brain Lower Grade Glioma_LGG_TCGA-HT-8011-01A-11R-2403-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null trichostatin A-6916 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K09468701 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.02634 BRD-K71251432 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.30932 H3K4me1_MEL cell line_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null GTEX-RNOR-0526-SM-2TF4O GTEx Tissue Sample Gene Expression Profiles -1.0 -0.847553 CRCGN017_MCF10A.WT.HP_24H:A17 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.10205 GSE57871_5_v_2_vorinostat_human RummaGEO Drug Perturbation Signatures 1.0 null SNU-638 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.1373 H3K4me1_ES-E14_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null H3K9ac_Colonic Mucosa Roadmap Epigenomics Histone Modification Site Profiles 1.0 null PMC12500496-262_2025_4178_MOESM2_ESM.xlsx-THP1_enriched_for_CVGBM-gene_name_GLI2 Rummagene Transcription Factor Associations 2026 1.0 null GTEX-RWSA-0005-SM-2XCAO GTEx Tissue Sample Gene Expression Profiles -1.0 -1.12215 Gastrointestinal system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.295 NCI-H322T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null GTEX-SJXC-0005-SM-2XCE7 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.25308 Brain Lower Grade Glioma_LGG_TCGA-DU-7007-01A-11R-2027-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null primary somatosensory cortex (area S1, areas 3,1,2)_30 yrs_F_12290 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.33147 H3K9ac_T-cell acute lymphoblastic leukemia_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-S33H-0005-SM-2XCAL GTEx Tissue Sample Gene Expression Profiles -1.0 -1.06623 TP53 ChEA Transcription Factor Targets 1.0 null HCC2279 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.00016 urinary system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.182086 dorsal thalamus_12 pcw_F_12835 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.975928 Connective tissue disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 5.0 diprophylline-1811 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null MAZ_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN015_MCF10A.WT.HP_24H:C22 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 5.643 Acute Myeloid Leukemia_LAML_TCGA-AB-2823-03A-01T-0736-13 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-WEY5-2226-SM-3GILQ GTEx Tissue Sample Gene Expression Profiles 1.0 1.26294 GSE214583,GSE214585_1_v_0_steap1_human RummaGEO Gene Perturbation Signatures 1.0 null Ependymal epithelium TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.4 CRCGN015_MCF10A.WT.HP_24H:C23 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.24866 EA-18-FP00_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.437808 GM2345 BioGPS Cell Line Gene Expression Profiles 1.0 0.827413 MAFK ENCODE Transcription Factor Targets 1.0 null H3K4me3_H1-hESC_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Kartagener Syndrome DisGeNET Gene-Disease Associations 1.0 null EMD LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00924858 Lung squamous cell carcinoma_LUSC_TCGA-56-7223-01A-11R-2045-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null SIN3A_PFSK-1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null HCC1395 CCLE Cell Line Gene CNV Profiles 1.0 1.41869 DOHH-2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.03874 NCI-H820 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.27512 nystagmus HPO Gene-Disease Associations 1.0 null H3K4me3_placenta_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null CTCF_H1-hESC_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null Brain Lower Grade Glioma_LGG_TCGA-HW-7491-01A-11R-2027-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null CRCGN017_MCF10A.TP53.M_24H:C22 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 5.12833 GSE135514_8_v_6_dasatinib_human RummaGEO Drug Perturbation Signatures 1.0 null smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO Biological Process Annotations 2015 1.0 null SCC-25 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.37789 GTEX-WWYW-0826-SM-3NB2X GTEx Tissue Sample Gene Expression Profiles 1.0 0.972262 rib fusion MGI Mouse Phenotype Associations 2023 1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-FS-A1ZK-06A-11R-A18T-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K92433833 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.48782 CTCF_K562_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null EZH2_myotube_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-QEG4-0626-SM-2S1OY GTEx Tissue Sample Gene Expression Profiles -1.0 -0.953593 Atrophoderma Maculatum DisGeNET Gene-Disease Associations 1.0 null GM97 BioGPS Cell Line Gene Expression Profiles -1.0 -1.53637 medial amygdala, posteroventral part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.79398 supraoptic nucleus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.19633 photoreceptor connecting cilium COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.237908 GTEX-OXRO-0011-R2A-SM-3NB1W GTEx Tissue Sample Gene Expression Profiles -1.0 -0.83226 GSE88819_1_v_12_tug1_mouse RummaGEO Gene Perturbation Signatures -1.0 null metformin-4 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Thin Upper Lip Vermilion DisGeNET Gene-Phenotype Associations 1.0 null PMC11373733-ABR-13-34_Suppl1.pdf-53-GLI1_GLI1 Rummagene Transcription Factor Associations 2026 1.0 null dicycloverine-1483 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Anterior cingulate area, ventral part, layer 5 Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.23994 plicamycin_homo sapiens_gpl570_gse25127 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-T6MO-2026-SM-33HB4 GTEx Tissue Sample Gene Expression Profiles 1.0 1.1518 Prominent Occiput DisGeNET Gene-Phenotype Associations 1.0 null Nervous system disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 GTEX-OOBJ-2626-SM-2I3F6 GTEx Tissue Sample Gene Expression Profiles 1.0 1.27543 H3K4me2_H1-hESC_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null HCC2688 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.0149 BRD-K99856384 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.33998 PHF8_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Kidney renal papillary cell carcinoma_KIRP_TCGA-DW-7842-01A-11R-A32Z-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CTCF-33576154-HUMAN-LIVER-PROSTATECANCER ChEA Transcription Factor Targets 2022 1.0 null GSE240030,GSE252532_0_v_2_atrx_human RummaGEO Gene Perturbation Signatures -1.0 null renal hypoplasia HPO Gene-Disease Associations 1.0 null Superior olivary complex, medial part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.05531 abnormality of phalanx of finger HPO Gene-Disease Associations 1.0 null CTCF_GM12869_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-QXCU-0326-SM-2TC63 GTEx Tissue Sample Gene Expression Profiles 1.0 1.02032 GON4L CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.30482 roxithromycin-4778 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE223609,GSE223610_0_v_1_kdm6a_human RummaGEO Gene Perturbation Signatures 1.0 null cytoplasmic part COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.05547 embryonic camera-type eye development GO Biological Process Annotations 2015 1.0 null BRD-K36208388 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.68505 Combined oxidative phosphorylation deficiency 5 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.579 Syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.47 GTEX-OXRO-0006-SM-2I5EM GTEx Tissue Sample Gene Expression Profiles -1.0 -2.56083 GSE137177_1_v_0_folic acid_mouse RummaGEO Drug Perturbation Signatures 1.0 null H19_DEPLETION_GDS4787_92_mouse_C2C12 myoblast cell line GEO Signatures of Differentially Expressed Genes for Gene Perturbations 1.0 null HDAC2_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null primary visual cortex (striate cortex, area V1/17)_13 pcw_M_12820 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.22094 Perturb_6060_KD_RBMX_SRP271175 PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 -8.74543 GSE123689_1_v_0_cbx8_human RummaGEO Gene Perturbation Signatures 1.0 null RBBP5_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE198165,GSE198166_9_v_4_zfp266_mouse RummaGEO Gene Perturbation Signatures 1.0 null H3K4me3_cardiac mesoderm_hg19_6 ENCODE Histone Modification Site Profiles 1.0 null GTEX-RWS6-0005-SM-2XCAN GTEx Tissue Sample Gene Expression Profiles -1.0 -1.19935 BRD-K88720906 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.59693 SIRT6 ENCODE Transcription Factor Targets 1.0 null pimozide-6780 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null USF2_CH12.LX_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BT-474 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.852774 Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-Q1-A73R-01A-11R-A33Z-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null abnormality of globe location HPO Gene-Disease Associations 1.0 null GTEX-XLM4-0005-SM-4AT4P GTEx Tissue Sample Gene Expression Profiles -1.0 -1.04517 K562_Dacinostat_10nM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.0203889 Prostate adenocarcinoma_PRAD_TCGA-EJ-5514-01A-01R-1580-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null HT-55 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.77502 BCS1L CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.04221 GSE125403_3_v_6_venetoclax_human RummaGEO Drug Perturbation Signatures 1.0 null Motile cilium COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 4.0 striatum_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.38213 GTEX-RU1J-1726-SM-2TF5S GTEx Tissue Sample Gene Expression Profiles -1.0 -0.899624 Acute Myeloid Leukemia_LAML_TCGA-AB-2919-03A-01T-0740-13 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null ifta GeneRIF Biological Term Annotations 1.0 null A2780 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.846616 GSE173201_0_v_1_cisplatin_human RummaGEO Drug Perturbation Signatures -1.0 null PCDHB11 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.24742 Asphyxiating thoracic dystrophy 5 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.526 H3K4me3_bone marrow_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null Sensory system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.064 NOS1 DepMap CRISPR Gene Dependency 1.0 2.3666 striatum_4 yrs_M_12298 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -2.05058 BL5015 (RBM34) NURSA Protein Complexes 1.0 null H3K9ac_K562_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null BICR 78 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.08018 MAZ_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE135514_2_v_6_dasatinib_human RummaGEO Drug Perturbation Signatures 1.0 null Blood Pressure Determination dbGAP Gene-Trait Associations 1.0 0.069305 MYC-19915707-AK7-HUMAN ChEA Transcription Factor Targets 2022 1.0 null GSE247862,GSE247863_0_v_5_eomes_mouse RummaGEO Gene Perturbation Signatures -1.0 null H3K4me3_fibroblast of upper leg skin_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_Skeletal Muscle Roadmap Epigenomics Histone Modification Site Profiles 1.0 null gata4_21746915_heart_lof_mouse_gpl6246_gds3931 GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations 1.0 0.208135 Lung squamous cell carcinoma_LUSC_TCGA-22-5471-11A-01R-1635-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K61623863 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.1008 GSE224294_4_v_2_ngly1_human RummaGEO Gene Perturbation Signatures 1.0 null aplasia/hypoplasia involving the skeleton HPO Gene-Disease Associations 1.0 null HCC1428 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.955124 absent supraoccipital bone MPO Gene-Phenotype Associations 1.0 null embryonic cranial skeleton morphogenesis GO Biological Process Annotations 2015 1.0 null short distal phalanx of finger HPO Gene-Disease Associations 1.0 null H3K27ac_H1 Derived Mesenchymal Stem Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null SP4_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormal brain morphology MPO Gene-Phenotype Associations 1.0 null medial parabrachial nucleus,right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.03496 SNU61 CCLE Cell Line Gene Expression Profiles -1.0 -1.94543 MAX_SK-N-SH_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-XUZC-1026-SM-4BOPY GTEx Tissue Sample Gene Expression Profiles 1.0 1.1848 microtubule cytoskeleton COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.342664 GTEX-XMK1-0005-SM-4B665 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.07798 abnormal tympanic ring morphology MPO Gene-Phenotype Associations 1.0 null HCC15 DepMap CRISPR Gene Dependency 1.0 4.0722 vorinostat-2680 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null r8 part of inferior olive Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -2.16047 spectrum GeneRIF Biological Term Annotations 1.0 null Anterior olfactory nucleus, medial part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.13717 STAT3_MCF 10A_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2A_myocyte_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null NTSR1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00611491 GSE213588_10_v_0_trametinib_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me3_Brain Mid Frontal Lobe Roadmap Epigenomics Histone Modification Site Profiles 1.0 null reproductive system TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.059542 H3K4me1_keratinocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null CHUK_knockdown_108_GSE27869 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 1.71958 Central nervous system TISSUES Curated Tissue Protein Expression Evidence Scores 2025 1.0 4.0 GSE142630_0_v_2_hiltonol_human RummaGEO Drug Perturbation Signatures -1.0 null BRCA1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Intraciliary transport particle A COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 5.0 Hypodontia DisGeNET Gene-Disease Associations 1.0 null subthalamic nucleus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.72594 GTEX-QMR6-1326-SM-32PLB GTEx Tissue Sample Gene Expression Profiles 1.0 1.30447 GSE155852_0_v_1_apigenin_mouse RummaGEO Drug Perturbation Signatures 1.0 null CTCF_keratinocyte_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null TK Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.20729 BRD-K23197669 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.11676 GTEX-WHSE-0006-SM-3NMBW GTEx Tissue Sample Gene Expression Profiles -1.0 -1.25312 Brain Lower Grade Glioma_LGG_TCGA-DU-8165-01A-11R-2256-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null TP53INP2_KO_GSE54917_384_mouse_Quadriceps muscle GEO Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 null GTEX-QMRM-0726-SM-2I5G8 GTEx Tissue Sample Gene Expression Profiles 1.0 0.83525 CTCF_HepG2_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null PMC4609150-13073_2015_228_MOESM2_ESM.xlsx-TP53-Gene_TP53 Rummagene Transcription Factor Associations 2026 1.0 null BRD-K38748890 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.32766 microtubule-based transport GO Biological Process Annotations 2015 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-18-3409-01A-01R-0980-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null diazoxide-5810 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GTEX-O5YW-0326-SM-2I5EI GTEx Tissue Sample Gene Expression Profiles -1.0 -0.863258 hsa-miR-4709-3p TargetScan Predicted Conserved microRNA Targets 1.0 1.11641 acetylsalicylic acid-5201 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE188570,GSE188571_5_v_2_decitabine_human RummaGEO Drug Perturbation Signatures -1.0 null rib fusion MPO Gene-Phenotype Associations 1.0 null GTEX-W5WG-0006-SM-3GIJT GTEx Tissue Sample Gene Expression Profiles -1.0 -1.47483 UMC-11 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -2.10927 abnormal spine curvature MGI Mouse Phenotype Associations 2023 1.0 null 9+2 non-motile cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.087 EZH2_T-cell acute lymphoblastic leukemia_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null FOXE1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 73.2151 RNF2-27304074-CHIP-SEQ-NSC-MOUSE ChEA Transcription Factor Targets 2022 1.0 null CRCGN015_MCF10A_48H:G14 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 5.3248 abnormal spine curvature MPO Gene-Phenotype Associations 1.0 null POLR2AphosphoS5_SK-N-SH_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null r6 part of rostral ventromedial reticular area Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.3242 BRD-K32398298_alprazolam_VCAP_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me3_Breast vHMEC Roadmap Epigenomics Histone Modification Site Profiles 1.0 null HT-1197 GDSC Cell Line Gene Expression Profiles -1.0 -2.11822 H3K4me3_astrocyte of the cerebellum_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null PMC11447041-41598_2024_74391_MOESM4_ESM.xlsx-B_ATF4-def_Tg_2_vs_DMSO_2-Unnamed_2_ATF4 Rummagene Transcription Factor Associations 2026 1.0 null GSE195743_3_v_2_lhx6_mouse RummaGEO Gene Perturbation Signatures 1.0 null BRD-K88080911 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.71832 r3 roof plate Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -2.48438 BRD-K30795375 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.01196 trichostatin A-2330 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormality of the ilium HPO Gene-Disease Associations 1.0 null Short Extremities DisGeNET Gene-Phenotype Associations 1.0 null amoxicillin-2620 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE133691_1_v_3_lgr5_mouse RummaGEO Gene Perturbation Signatures -1.0 null Syndactyly type 1 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.035 CDX4 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 19.266 Frontonasal dysplasia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.426 CREM ChEA Transcription Factor Targets 1.0 null abnormality of the kidney HPO Gene-Disease Associations 1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-AK-3445-01A-02R-1277-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null NCIH1355 DepMap CRISPR Gene Dependency 1.0 2.21176 GTEX-RVPV-0006-SM-2TF6Q GTEx Tissue Sample Gene Expression Profiles -1.0 -1.53402 medial part of r5B Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.50842 abnormal rib morphology MPO Gene-Phenotype Associations 1.0 null GTEX-SIU8-0526-SM-2XCDP GTEx Tissue Sample Gene Expression Profiles -1.0 -1.15313 Liver Neoplasms, Experimental CTD Gene-Disease Associations 1.0 1.27193 GSE232631_5_v_2_brca2_mouse RummaGEO Gene Perturbation Signatures -1.0 null Retinal degeneration DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.257 GSE193258,GSE193259_2_v_8_osimertinib_human RummaGEO Drug Perturbation Signatures 1.0 null RUNX2-24655370-MC3T3E1-MOUSE-BONE ChEA Transcription Factor Targets 2022 1.0 null in utero embryonic development GO Biological Process Annotations 2015 1.0 null DC-47-KV62_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.202296 lateral group of nuclei, right, ventral division Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.16007 system development GO Biological Process Annotations 2015 1.0 null H3K4me3_MEL cell line_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null MCF7_Trichostatin A_10µM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.00691979 single-organism organelle organization GO Biological Process Annotations 2015 1.0 null H3K4me3_B cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-ER-A19T-01A-11R-A18T-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null NCI-H2227 GDSC Cell Line Gene Expression Profiles 1.0 2.79969 Nervous System Diseases CTD Gene-Disease Associations 1.0 1.13211 H3K4me3_ES-E14_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null intraciliary transport particle a GO Cellular Component Annotations 2015 1.0 null MAFK_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-X88G-0006-SM-47JX5 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.07118 PPP1R13L CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.67656 GSE128844_0_v_1_chloroquine_human RummaGEO Drug Perturbation Signatures 1.0 null dorsomedial hypothalamic nucleus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.11889 protein-containing complex COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 5.0 H3K79me2_HepG2_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null SIRT6_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null JB-75-NC66_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.245154 fenspiride-2106 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null 8-MG-BA COSMIC Cell Line Gene Mutation Profiles 1.0 null BRD-K67715154 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.05998 GTEX-U412-0326-SM-3DB9L GTEx Tissue Sample Gene Expression Profiles -1.0 -0.926938 Lung TISSUES Curated Tissue Protein Expression Evidence Scores 2025 1.0 4.0 SARC9371 COSMIC Cell Line Gene Mutation Profiles 1.0 null H3K4me3_retinal pigment epithelial cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null INTS1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00580927 ZNF136 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 25.672 Plasma membrane bounded cell projection cytoplasm COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.71 CTCF_fibroblast of skin of abdomen_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Lung adenocarcinoma_LUAD_TCGA-69-8255-01A-11R-2287-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PMC11554977-40199_2024_523_MOESM2_ESM.xlsx-Sheet1-Supplement_2_Metformin_Drug_Sensitivity_and_Damaging_Mutation_by_using_PRISM_Repurposing_Primary_Screen_and_Damaging_Mutation_in_DepMap_PRDM6 Rummagene Transcription Factor Associations 2026 1.0 null SIN3A_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-XUW1-0126-SM-4BOOQ GTEx Tissue Sample Gene Expression Profiles 1.0 1.22946 IF-87-AU84_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.404311 BRD-K37906141 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.31785 GSE169152_5_v_1_ibrutinib_human RummaGEO Drug Perturbation Signatures 1.0 null Bone disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 5.0 anophthalmia MGI Mouse Phenotype Associations 2023 1.0 null signal recognition particle COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.281453 Kidney renal papillary cell carcinoma_KIRP_TCGA-G7-A8LE-01A-11R-A36F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Neurobehavioral Manifestations CTD Gene-Disease Associations 1.0 1.41559 NIH:OVCAR-3 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.843171 ampyrone-1402 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null embryo TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.053527 BRD-K86961579 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.54136 GSE77108_4_v_2_saha_human RummaGEO Drug Perturbation Signatures -1.0 null Head and Neck squamous cell carcinoma_HNSC_TCGA-F7-A624-01A-22R-A30B-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null AD-16-HL96_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.306438 GSE57871_11_v_2_vorinostat_human RummaGEO Drug Perturbation Signatures 1.0 null Renal Dysplasia DisGeNET Gene-Disease Associations 1.0 null IL31 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00528854 NCI-H187 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 1.20729 H3K9ac_endothelial cell of umbilical vein_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Gastrointestinal Carcinoid Tumor DisGeNET Gene-Disease Associations 1.0 null Perturb_5354_KO_Dux_SRP201141 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -3.79316 AR-19668381-PC3-HUMAN ChEA Transcription Factor Binding Site Profiles 1.0 null H3K4me3_fibroblast of skin of abdomen_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null protein localization to ciliary membrane GO Biological Process Annotations 2025 1.0 null esculetin-6499 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null basal nucleus of Meynert Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.18151 KMT2C LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00598289 MXI1_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-U8XE-0726-SM-3DB8O GTEx Tissue Sample Gene Expression Profiles -1.0 -1.3964 NCIH1299 CCLE Cell Line Gene CNV Profiles 1.0 1.46158 BRD-K38966099 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.01329 H3K9ac_HeLa-S3_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H3K27ac_GM12878_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GSE125219,GSE125221_4_v_8_arid1a_human RummaGEO Gene Perturbation Signatures -1.0 null BRD-K45112293 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.10931 Nutrition disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.174 GTEX-XPVG-2826-SM-4B66J GTEx Tissue Sample Gene Expression Profiles 1.0 1.15072 MAX_HCT116_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null TCC-PAN2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.920161 Skin Cutaneous Melanoma_SKCM_TCGA-EE-A3JI-06A-11R-A21D-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PANC 02.03 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.902767 MFE-319 COSMIC Cell Line Gene Mutation Profiles 1.0 null SIN3B-21632747-MESC-MOUSE ChEA Transcription Factor Binding Site Profiles 1.0 null inguinal hernia HPO Gene-Disease Associations 1.0 null Sarcoma_SARC_TCGA-WP-A9GB-01A-11R-A37L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null FCER1A LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.0052821 Disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 NCI-H1792 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.08449 TAL1-20887958-HPC-7-MOUSE ChEA Transcription Factor Binding Site Profiles 1.0 null KA-29-AB08_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.270756 MZ in ventromedial extrastriate cortex (VP) Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.932276 Joint Laxity DisGeNET Gene-Phenotype Associations 1.0 null OB granular layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.13467 GSE182680,GSE182683_5_v_13_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null Craniosynostosis syndrome ClinVar Gene-Phenotype Associations 2025 1.0 null cerebellar cortex_35 pcw_F_12295 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.30446 CTCF_fibroblast of villous mesenchyme_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H2AFZ_endothelial cell of umbilical vein_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE244072_10_v_9_tfeb_mouse RummaGEO Gene Perturbation Signatures -1.0 null Nephronophthisis 13 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 3.136 BRD-K97617600 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.85535 POLR2A_spleen_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN017_MCF10A.TP53.M_24H:I10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 6.28924 bupivacaine-2404 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null H3K4me3_B cell_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null male reproductive system TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.273346 Bed nucleus of the accessory olfactory tract Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.23456 KMS-12-BM Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.27447 HELA Roadmap Epigenomics Cell and Tissue Gene Expression Profiles 1.0 1.4553 microtubule-based process GO Biological Process Annotations 2015 1.0 null small parietal bone MPO Gene-Phenotype Associations 1.0 null cell projection assembly GO Biological Process Annotations 2015 1.0 null H3K4me2_GM12878_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null procainamide-4602 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null RELA_GM19099_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me1_cerebellum_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null abnormality of nitrogen compound homeostasis HPO Gene-Disease Associations 1.0 null Dent disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.386 POLR2A_H54_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_CD4+ CD25int CD127+ Tmem Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null abnormal hindlimb morphology MPO Gene-Phenotype Associations 1.0 null granule cell layer of the DG Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.38909 BRD-K64066545 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.57286 H3K4me1_fibroblast of lung_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K55766625 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.46992 GSE157960_2_v_3_progesterone_mouse RummaGEO Drug Perturbation Signatures -1.0 null GSE125014_6_v_4_enzalutamide_human RummaGEO Drug Perturbation Signatures 1.0 null primary visual cortex (striate cortex, area V1/17)_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 2.22782 abnormal skeleton morphology MPO Gene-Phenotype Associations 1.0 null GTEX-WVLH-0006-SM-3MJF7 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.18109 Inner dynein arm COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.985 Axonemal microtubule COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.381 NR2F2 ENCODE Transcription Factor Targets 1.0 null CLPP_KO_GDS4791_539_mouse_liver GEO Signatures of Differentially Expressed Genes for Gene Perturbations 1.0 null Exocyst COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.991 abnormality of the thorax HPO Gene-Disease Associations 1.0 null PECAPJ34CLONEC12 CCLE Cell Line Gene Expression Profiles -1.0 -1.58765 tropicamide-2309 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null WSU-NHL Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.78141 BRD-K74600148 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.29905 choroid plexus of the lateral ventricle Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.86348 absent frontal bone MGI Mouse Phenotype Associations 2023 1.0 null GSE128730_3_v_2_neratinib_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K36134264 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.24163 E2F6_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormal joint morphology HPO Gene-Disease Associations 1.0 null H3K4me3_SK-N-MC_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null GSE179880_1_v_5_e2f4_mouse RummaGEO Gene Perturbation Signatures 1.0 null primary motor cortex (area M1, area 4)_4 yrs_M_12298 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.25251 NKX6-1 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 15.1225 Lhx1 JASPAR Predicted Mouse Transcription Factor Targets 2025 1.0 18.5969 anatomical structure development GO Biological Process Annotations 2015 1.0 null disease of anatomical entity DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.044507 Outer dense fiber COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.113 ovary_8a HPA Tissue Sample Gene Expression Profiles 1.0 1.50578 OB mitral cell layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.10428 TCF4-32651957-PLC/PRF/5-HUMAN-LIVER-HEPTOMA ChEA Transcription Factor Targets 2022 1.0 null BRD-K08489825 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.19049 PMC3371315-NIHMS350140-supplement-13.xls-MCF7-T47D-SK-453_Up_Common_xls-Supplementary_Table_6_Luminal_Signature_Genes_increased_in_all_four_cell_lines_MCF7_T47D_MB-453_SKBR3_with_knockdown_of_FOXA1_FOXA1 Rummagene Transcription Factor Associations 2026 1.0 null H3K4me3_NB4_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GSE186483_1_v_0_lrrk2_mouse RummaGEO Gene Perturbation Signatures -1.0 null BRD-K85235446 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.2724 GSE142588_2_v_1_cinobufagin_human RummaGEO Drug Perturbation Signatures 1.0 null deviation of the hand or of fingers of the hand HPO Gene-Disease Associations 1.0 null GSE158969_1_v_0_trastuzumab_human RummaGEO Drug Perturbation Signatures 1.0 null betazole-1690 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K50140147_NVP-TAE684_HME1_24_h_1.11_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null r3 part of dorsal parvicellular reticular formation Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.04998 urogenital system TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.05705 ventromedial preoptic nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.01663 BRD-K36575696 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.24207 DUSP5 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00568472 GSE150669_0_v_1_roxadustat_mouse RummaGEO Drug Perturbation Signatures 1.0 null GSE186810,GSE186813_7_v_0_furin_mouse RummaGEO Drug Perturbation Signatures -1.0 null BRD-K70914287_BIBX 1382 dihydrochloride_HCC515_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null A549_Quisinostat_100nM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.0109497 H3K4me3_LNCaP clone FGC_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null nervous system TISSUES Experimental Tissue Protein Expression Evidence Scores 1.0 0.766457 MAX ENCODE Transcription Factor Targets 1.0 null axoneme COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 1.38294 Ciliary transition fiber COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.877 nervous system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.053017 CC-03-PW00_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.228825 GSE125782_0_v_1_glutamine_mouse RummaGEO Drug Perturbation Signatures 1.0 null LY-294002-1016 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CHD2_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_fibroblast of pedal digit skin_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null SLC9A8 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -3.05319 H3K27me3_H7_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null r10 part of nucleus gracilis Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.00863 BRD-K92358687 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.30497 trichostatin A-5260 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null trichostatin A-5572 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE125219,GSE125221_4_v_2_arid1a_human RummaGEO Gene Perturbation Signatures -1.0 null H3K27me3_T-cell acute lymphoblastic leukemia_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE158632_2_v_4_oxyquinoline_human RummaGEO Drug Perturbation Signatures -1.0 null GSE125014_1_v_4_enzalutamide_human RummaGEO Drug Perturbation Signatures 1.0 null Beemer-Langer syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.028 H3K4me2_myotube_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null KB-78-BE93_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.21833 H3K27ac_fibroblast of lung_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null GSE191015_1_v_3_gsdmb_human RummaGEO Gene Perturbation Signatures 1.0 null abnormality of the foot HPO Gene-Disease Associations 1.0 null BRD-K05474024 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.07355 GTEX-OOBK-0005-SM-2YUMG GTEx Tissue Sample Gene Expression Profiles -1.0 -2.30886 BRD-K40175214_torin-1_BT20_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null WD40-repeat-containing domain InterPro Predicted Protein Domain Annotations 1.0 null nephronophthisis DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 1.30445 ChIP_CHD1_19587682 ESCAPE Omics Signatures of Genes and Proteins for Stem Cells 1.0 null Lung squamous cell carcinoma_LUSC_TCGA-33-6737-11A-01R-1820-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null novobiocin-576 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K95922469 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.1841 Infralimbic area, layer 6b Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.37017 posterior (caudal) superior temporal cortex (area 22c)_2 yrs_F_12979 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.43353 Paraventricular hypothalamic nucleus, magnocellular division, posterior magnocellular part, lateral zone Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.17779 whole body TISSUES Curated Tissue Protein Expression Evidence Scores 1.0 null BRD-K67868012_PI-103_HCC515_24_h_1.11_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE230263,GSE230265_0_v_1_runx1_human RummaGEO Gene Perturbation Signatures -1.0 null GTL-16 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.865148 meclofenamic acid-2128 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null SW 403 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -2.54517 GTEX-WFG7-0326-SM-3GILI GTEx Tissue Sample Gene Expression Profiles 1.0 0.954143 H3K9ac_myotube_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null FA-88-II68_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.24597 HCC70 Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles -1.0 -1.32793 18425577-TableS3a GeneSigDB Published Gene Signatures 1.0 null FGFR1_knockdown_94_GSE27869 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 1.84607 CTCF_cardiac fibroblast_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Claw TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.678 SMC3_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null FOXA1-27270436-VCAP-HUMAN-PROSTATE-CARCINOMA ChEA Transcription Factor Targets 2022 1.0 null BRD-K83012560 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.15478 abnormal mandibular angle morphology MGI Mouse Phenotype Associations 2023 1.0 null GSE249404_0_v_1_oxytocin_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me3_WERI-Rb-1_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null MAX_A549_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE226249_0_v_7_pirfenidone_human RummaGEO Drug Perturbation Signatures -1.0 null securinine-6831 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K12343256_trametinib_HT29_24_h_1.11_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-PWN1-2426-SM-48TDD GTEx Tissue Sample Gene Expression Profiles 1.0 1.48266 MAP2K1_knockdown_134_GSE31534 GEO Signatures of Differentially Expressed Genes for Kinase Perturbations 1.0 1.73224 GSE138019_3_v_6_nudt12_mouse RummaGEO Gene Perturbation Signatures 1.0 null CRCGN014_HEPG2_3H:N12 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.27899 MAZ ENCODE Transcription Factor Targets 1.0 null SFPI1-20887958-HPC-7-MOUSE ChEA Transcription Factor Targets 2022 1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-CZ-4864-01A-01R-1503-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PMC10661700-41525_2023_383_MOESM2_ESM.xlsx-Supp_Table3_WBBC_GCR-SYMBOL_NR3C1 Rummagene Transcription Factor Associations 2026 1.0 null Hedgehog 'off' state Reactome Pathways 2024 1.0 null H3K4me3_GM12866_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null superficial stratum of AHy Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.56504 ECC12 CCLE Cell Line Gene CNV Profiles -1.0 -1.97156 ANAPC5 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.11679 H3K4me1_spleen_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null A-VN-1203-2004(H5N1)_Day2-10^2pfu_22074594_GSE33263 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 1.7551 shell of p3ZL Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.10468 Kidney renal papillary cell carcinoma_KIRP_TCGA-G7-7502-01A-11R-2204-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Intellectual disability ClinVar Gene-Phenotype Associations 2025 1.0 null CP-690334-01-4558 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K12502280_TG101348_HCC515_24.0_h_11.1_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Perturb_16735_KO_Il2ra_SRP167045 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -1.32618 GTEX-XBED-0006-SM-47JXO GTEx Tissue Sample Gene Expression Profiles -1.0 -1.03628 BRD-K52148119 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.23555 CTCF_brain microvascular endothelial cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Dorsal peduncular area, layer 6a Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.05409 abnormality of the fontanelles or cranial sutures HPO Gene-Disease Associations 1.0 null BRD-K20348534 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.26603 BRD-K96968070 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.05717 NOL9 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.17567 IRF2 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 46.6667 H3K4me3_Panc1_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null GSE146687_2_v_0_eribulin_human RummaGEO Drug Perturbation Signatures -1.0 null GSE213588_9_v_13_trametinib_human RummaGEO Drug Perturbation Signatures 1.0 null b12 TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.916 H3K4me1_erythroblast_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null GSE159678_4_v_3_chloroquine_human RummaGEO Drug Perturbation Signatures -1.0 null GSE158834_2_v_9_palmitic acid_human RummaGEO Drug Perturbation Signatures 1.0 null CRCGN017_MCF10A.WT.HP_24H:K10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.8187 EB-1 cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.116 K562 BioGPS Cell Line Gene Expression Profiles -1.0 -1.09414 BRD-A19037878_trichostatin A_MCF7_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K81418486_vorinostat_PC3_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K03618428_PP-110_HA1E_24.0_h_22.2_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null MYC ChEA Transcription Factor Targets 1.0 null GTEX-XMD3-2326-SM-4AT5H GTEx Tissue Sample Gene Expression Profiles 1.0 1.04561 CRCGN013_HEPG2_24H:K10 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.87222 ventrolateral preoptic nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.51816 SLR24 CCLE Cell Line Gene CNV Profiles -1.0 -1.32282 H3K4me1_embryonic fibroblast_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null intraciliary transport particle COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 1.77339 TE10_OESOPHAGUS CCLE Cell Line Proteomics 1.0 2.24069 CTCF_HCT116_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null ELF1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2A_ECC-1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-UPK5-0006-SM-3GAD8 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.34869 Respiratory system TISSUES Curated Tissue Protein Expression Evidence Scores 2025 1.0 4.0 ETS2 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 18.4217 GSE226115,GSE226116_1_v_0_doxorubicin_human RummaGEO Drug Perturbation Signatures -1.0 null NCI-H1781 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -2.2824 abnormality of the lens HPO Gene-Disease Associations 1.0 null Sarcoma_SARC_TCGA-WK-A8XT-01A-11R-A37L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Short Stature, Ctcae DisGeNET Gene-Phenotype Associations 1.0 null BRD-K24385654 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.10742 NCI-H2087 COSMIC Cell Line Gene Mutation Profiles 1.0 null GTEX-XBEW-0006-SM-4AT4E GTEx Tissue Sample Gene Expression Profiles -1.0 -1.71142 superficial stratum of r6BI Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.33217 GSE221327_4_v_2_clpp_human RummaGEO Gene Perturbation Signatures -1.0 null BRD-K64890080_BI 2536_NCIH2073_6.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K4me2_K562_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GSE92589_0_v_1_sirolimus_mouse RummaGEO Drug Perturbation Signatures 1.0 null RAPGEF4 Pathway Commons Protein-Protein Interactions 1.0 null H3K4me3_brown adipose tissue_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null GSE158834_10_v_3_palmitic acid_human RummaGEO Drug Perturbation Signatures -1.0 null GTEX-XBEW-0226-SM-4AT6A GTEx Tissue Sample Gene Expression Profiles 1.0 1.02982 TAF1_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null A-CA-04-2009(H1N1)_24Hour_None_GSE40844 GEO Signatures of Differentially Expressed Genes for Viral Infections -1.0 -2.57108 ZNF214 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 22.1186 orbital frontal cortex_2 yrs_F_12979 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -2.57166 GTEX-W5WG-2326-SM-3GIJH GTEx Tissue Sample Gene Expression Profiles 1.0 1.02443 Thoracic Dysplasia DisGeNET Gene-Disease Associations 1.0 null regulation of biological process GO Biological Process Annotations 2015 1.0 null trichostatin A-4112 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null cell projection part COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.693832 JUN_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null PMC7064337-elife-51373-supp1.xlsx-MTF2_targets_shCTR-List_of_2011_genes_marked_by_MTF2_ChIPseq_in_control_conditions_shCTR_MTF2 Rummagene Transcription Factor Associations 2026 1.0 null CRCGN013_HEPG2_24H:K09 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.27291 BRD-K04147413 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.37613 496100407_FWM_probable Alzheimer's disease_no TBI_88_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -2.9178 BRD-K34720817 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.05214 GATA3-30127528-KELLY-HUMAN-BRAIN-NEUROBLASTOMA ChEA Transcription Factor Targets 2022 1.0 null H3K4me3_CD4+ CD25- CD45RO+ Memory Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GTEX-QEG5-0426-SM-2I5GJ GTEx Tissue Sample Gene Expression Profiles -1.0 -0.904717 striatum_19 pcw_F_12885 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.857595 Motile cilium COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.29 CRCGN015_MCF10A_48H:F01 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 4.2323 BRD-K54997624_BYL719_HT29_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null trichostatin A-5209 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null lung TISSUES Curated Tissue Protein Expression Evidence Scores 1.0 null H3K4me3_HepG2_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null Bladder Urothelial Carcinoma_BLCA_TCGA-2F-A9KR-01A-11R-A38B-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Brain Lower Grade Glioma_LGG_TCGA-S9-A7R2-01A-21R-A34R-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-RNOR-0005-SM-2TF4Z GTEx Tissue Sample Gene Expression Profiles -1.0 -1.17228 STX-0119 DeepCoverMOA Drug Mechanisms of Action 1.0 0.22 clindamycin-7172 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null cutaneous syndactyly HPO Gene-Disease Associations 1.0 null m86 TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.268 molecular layer of the DG Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.24598 Glomerulonephritis DisGeNET Gene-Disease Associations 1.0 null 15361855-SuppTable1 GeneSigDB Published Gene Signatures 1.0 null Acute Myeloid Leukemia_LAML_TCGA-AB-2879-03A-01T-0735-13 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Skin Cutaneous Melanoma_SKCM_TCGA-D3-A5GU-06A-11R-A27Q-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Bladder Urothelial Carcinoma_BLCA_TCGA-DK-A3IM-01A-11R-A20F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Cleft palate DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.536 bilateral cleft upper lip MGI Mouse Phenotype Associations 2023 1.0 null OLIG2-29049317-MOUSE-SPINALCORD ChEA Transcription Factor Targets 2022 1.0 null PMC7397849-supp_gad.338681.120_Supplemental_Table_S3.xlsx-S3L_Peaks_2SA-YAP1_TEAD4-Unnamed_11_TEAD4 Rummagene Transcription Factor Associations 2026 1.0 null interparietal bone hypoplasia MPO Gene-Phenotype Associations 1.0 null BRD-K12431811 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.80992 BRD-K42918627_GSK-2126458_HA1E_24_h_0.04_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null proadifen-7165 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null dorsolateral prefrontal cortex_19 pcw_F_12885 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.04239 cranioectodermal dysplasia 4 OMIM Gene-Disease Associations 1.0 null KYSE450_OESOPHAGUS CCLE Cell Line Proteomics 1.0 5.02604 Bardet Biedl syndrome WikiPathways Pathways 2024 1.0 null abnormal appendicular skeleton morphology HPO Gene-Disease Associations 1.0 null Signaling by Hedgehog Reactome Pathways 2024 1.0 null DNA2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.0861 Plasma membrane region COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.912 FOSL2 ENCODE Transcription Factor Targets 1.0 null MAX_HepG2_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null ZNF524 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.20401 NCI-H1568 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.88796 intracellular organelle COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 HDLM-2 GDSC Cell Line Gene Expression Profiles -1.0 -1.65527 Kidney Chromophobe_KICH_TCGA-KO-8403-11A-01R-2315-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null scriptaid-6901 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE202434,GSE202438_15_v_1_talazoparib_human RummaGEO Drug Perturbation Signatures 1.0 null arachidonic acid-604 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CRCGN011_HEPG2_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.76525 BRD-K50272743 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.13852 trichostatin A-6340 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null superficial stratum of r5BM Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -3.34593 BT483 Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles 1.0 0.784211 ADM2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.51977 glipizide-4991 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null 8598_SUPT5H_P1P2 Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures 1.0 1.53992 BRD-A20305532 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.03957 Cytoplasmic periphery of the nuclear pore complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.73 CTCF_H54_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null IGSF1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00676849 USF1_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_MCF-7_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null H3K9ac_Adipose Derived Mesenchymal Stem Cell Cultured Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null H3K4me1_G1E-ER4_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null GSE179974_3_v_0_carboplatin_mouse RummaGEO Drug Perturbation Signatures -1.0 null PMC6225799-annrheumdis-2018-213524supp003.xlsx-Activated-state-LPS-Gene_Symbol_IRF6 Rummagene Transcription Factor Associations 2026 1.0 null BRD-K87602457 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.2805 abnormality of the 5th finger HPO Gene-Disease Associations 1.0 null GSE142210_9_v_1_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null primary motor-sensory cortex (samples)_16 pcw_M_12287 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.952656 intraciliary retrograde transport GO Biological Process Annotations 2015 1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-BP-4334-01A-01R-1289-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null BRD-A20213616 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.28017 NCIH838_LUNG CCLE Cell Line Proteomics 1.0 2.43362 PMC9400428-7272371.f2.docx-1-MYSM1_MYSM1 Rummagene Transcription Factor Associations 2026 1.0 null PMC9013128-NIHMS1795992-supplement-4.xlsx-501mel_ARID2_KO_Downregulated-Gene__name_ARID2 Rummagene Transcription Factor Associations 2026 1.0 null HMGN3 ENCODE Transcription Factor Targets 1.0 null Neoplasm Metastasis CTD Gene-Disease Associations 1.0 1.15022 USF2_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Heart - Atrial Appendage GTEx Tissue Gene Expression Profiles 2023 1.0 1.2685 H3K4me3_skeletal muscle myoblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H2AFZ_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K96652989 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.40033 GSE135030_8_v_5_fludarabine_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K60898929 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.39279 PMC10661700-41525_2023_383_MOESM2_ESM.xlsx-Supp_Table6_gnomAD_EUR_GCR-SYMBOL_NR3C1 Rummagene Transcription Factor Associations 2026 1.0 null PMC12824661-BLOOD_BLD-2024-027020-mmc6.xls-Table_S14-ChIP_and_HES4_UP_HES4 Rummagene Transcription Factor Associations 2026 1.0 null cilium organization GO Biological Process Annotations 2015 1.0 null duplication of bones involving the upper extremities HPO Gene-Disease Associations 1.0 null Monogenic disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.409 GTEX-TSE9-0426-SM-3DB81 GTEx Tissue Sample Gene Expression Profiles 1.0 0.90588 cell projection COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.660345 movement of cell or subcellular component GO Biological Process Annotations 2015 1.0 null GTEX-XUW1-0005-SM-4BOQ7 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.928604 fluphenazine-6996 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CTCF_GM06990_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-TML8-1626-SM-32QOO GTEx Tissue Sample Gene Expression Profiles 1.0 0.848673 SNUC1 DepMap CRISPR Gene Dependency 1.0 2.364 GSE120612_6_v_5_etoposide_human RummaGEO Drug Perturbation Signatures 1.0 null medial trapezoid nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -3.34593 GTEX-TMMY-2226-SM-4DXTN GTEx Tissue Sample Gene Expression Profiles 1.0 0.98944 ALDH1A2_KO_GDS4836_289_mouse_posterior embryonic brain GEO Signatures of Differentially Expressed Genes for Gene Perturbations 1.0 null BRD-K69932463_AZD-8055_HA1E_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE142210_11_v_1_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null trichostatin A-5417 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null mediodorsal nucleus of thalamus_2 yrs_F_12979 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.27663 Senior-Loken Syndrome DisGeNET Gene-Disease Associations 1.0 null Lung adenocarcinoma_LUAD_TCGA-55-7573-01A-11R-2039-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null FOS_MCF 10A_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE193249_0_v_1_gpx8_human RummaGEO Gene Perturbation Signatures -1.0 null H3K4me1_heart_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null A-Vietnam-1203_CIP048_RG4-2004(H5N1)NS1trunc124_4day-MOI-10^3_None_GSE44445 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 2.17199 H3K4me3_astrocyte of the cerebellum_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null ancient GeneRIF Biological Term Annotations 1.0 null Centriole COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.115 H3K27ac_kidney_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null VZ in midcingulate neocortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.09921 hecogenin-7175 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K75293299 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.02992 COLO 699 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.865148 abnormal lip shape MPO Gene-Phenotype Associations 1.0 null CTCF_MCF-7_hg19_6 ENCODE Transcription Factor Binding Site Profiles 1.0 null DNLZ LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00584642 H3K4me3_CD8 Naive Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null superficial stratum of POH Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.60489 Respiratory Insufficiency DisGeNET Gene-Phenotype Associations 1.0 null Neuron projection COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 4.0 POLR2A_MCF-7_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN016_MCF10A.WT.HP_24H:L22 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.97709 H3K27ac_testis_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null limb morphogenesis GO Biological Process Annotations 2015 1.0 null KYSE-450 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.11889 KCNN3 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00655895 Gastric cecum TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.562 TAF1_SK-N-SH_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Hyperplasia CTD Gene-Disease Associations 1.0 1.50524 BRD-K35960502_NICLOSAMIDE_HA1E_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K83898111 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.14419 BRD-K70594121 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.31883 GSE150634_1_v_0_cd28_mouse RummaGEO Gene Perturbation Signatures -1.0 null luteolin-5004 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null skeletalmuscle_b HPA Tissue Sample Gene Expression Profiles -1.0 -0.987444 HS729 CCLE Cell Line Gene CNV Profiles 1.0 1.39195 Kidney renal clear cell carcinoma_KIRC_TCGA-A3-3351-01A-02R-1325-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null polydactyly DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 1.30925 ketotifen-1583 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null ABCC2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00650392 anatomical structure formation involved in morphogenesis GO Biological Process Annotations 2015 1.0 null trichostatin A-1672 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null snoutepidermis BioGPS Mouse Cell Type and Tissue Gene Expression Profiles -1.0 -0.868217 GSE242096,GSE242098_1_v_0_med1_mouse RummaGEO Gene Perturbation Signatures -1.0 null CRCGN017_MCF10A.TP53.M_24H:G11 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 5.06614 GSE129186,GSE129223_0_v_1_aicda_mouse RummaGEO Gene Perturbation Signatures 1.0 null BL5046 (POLA2) NURSA Protein Complexes 1.0 null GSE159446,GSE159449_1_v_0_tunicamycin_mouse RummaGEO Drug Perturbation Signatures -1.0 null limbs/digits/tail phenotype MPO Gene-Phenotype Associations 1.0 null ZBTB33_SK-N-SH_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null CRCGN016_MCF10A.WT.HP_24H:C05 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.14433 valproic acid-1020 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRD-K74382273 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.39719 BRD-K11571815 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.28045 PMC10746608-427_2023_709_MOESM5_ESM.xlsx-NR3C1_partners-NR3C1_known_protein_partners_according_to_BioGrid_NR3C1 Rummagene Transcription Factor Associations 2026 1.0 null H3K4me3_Brain Cingulate Gyrus Roadmap Epigenomics Histone Modification Site Profiles 1.0 null BRD-K19320442 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.42654 TAF1_HeLa-S3_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null eye disease DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.40008 Lung squamous cell carcinoma_LUSC_TCGA-43-7657-11A-01R-2125-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null striatum_4 yrs_M_12298 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.10335 BRD-K28305165 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.31495 Floor plate TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.293 oxolinic acid-5519 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null furosemide-1580 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Acute Myeloid Leukemia_LAML_TCGA-AB-3011-03A-01T-0736-13 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null MCF7_Givinostat_10µM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.0109855 SP1_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Myopia DisGeNET Gene-Disease Associations 1.0 null GSE184902_4_v_1_adipor1_mouse RummaGEO Gene Perturbation Signatures -1.0 null H3K4me3_astrocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null senior-loken syndrome DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null KDM1A_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K33873762 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.31846 TAF1_GM12892_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null ELF1_HepG2_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Criduchat TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.588 KP4_PANCREAS CCLE Cell Line Proteomics 1.0 2.44423 Acute Myeloid Leukemia_LAML_TCGA-AB-2999-03B-01T-0748-13 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Nucleus prepositus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.07157 cytoplasm COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.098109 mantle zone of r5Co Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.40355 BL70 DepMap CRISPR Gene Dependency 1.0 4.40349 broad long bones HPO Gene-Disease Associations 1.0 null Adrenocortical carcinoma_ACC_TCGA-OR-A5LD-01A-11R-A29S-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PALB2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.09014 abnormality of the urinary system physiology HPO Gene-Disease Associations 1.0 null Mastigoneme COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.999 GTEX-PLZ4-2826-SM-3P617 GTEx Tissue Sample Gene Expression Profiles 1.0 1.66408 Kidney renal clear cell carcinoma_KIRC_TCGA-B0-5117-01A-01R-1420-07 TCGA Signatures of Differentially Expressed Genes for Tumors -1.0 null H3K4me3_cardiac mesoderm_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null short ribs MPO Gene-Phenotype Associations 1.0 null SIPA1L2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.39744 Prostate adenocarcinoma_PRAD_TCGA-EJ-A7NM-01A-21R-A33R-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K28698418 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.12015 IRF1_K562_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null Rectum adenocarcinoma_READ_TCGA-EI-6917-01A-11R-1928-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PPARG-20176806-3T3-L1-MOUSE ChEA Transcription Factor Targets 2022 1.0 null GTEX-WOFL-0006-SM-3TW8K GTEx Tissue Sample Gene Expression Profiles -1.0 -2.15779 E2F1-21310950-MCF-7-HUMAN ChEA Transcription Factor Targets 2022 1.0 null HCC2935 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.04129 Head and Neck squamous cell carcinoma_HNSC_TCGA-CV-6939-01A-11R-1915-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null MYBL2_HepG2_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE142210_3_v_1_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me2_H9 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GSE135352_2_v_3_napabucasin_human RummaGEO Drug Perturbation Signatures 1.0 null CTCF_fibroblast of dermis_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Brain Lower Grade Glioma_LGG_TCGA-E1-A7Z6-01A-11R-A34R-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null SOX11-22085726-ESNS-MOUSE ChEA Transcription Factor Targets 2022 1.0 null BRD-K06318195 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.21529 mediodorsal nucleus of thalamus_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.852128 hand polydactyly HPO Gene-Disease Associations 1.0 null PMC8196557__F6 PFOCR Pathway Figure Associations 2024 1.0 null Kidney renal clear cell carcinoma_KIRC_TCGA-DV-A4VX-01A-11R-A266-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K10048365 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.67308 COPI-coated vesicle membrane COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.978 abnormal number of teeth HPO Gene-Disease Associations 1.0 null CTCF_A549_hg19_10 ENCODE Transcription Factor Binding Site Profiles 1.0 null abnormal morphology of bones of the lower limbs HPO Gene-Disease Associations 1.0 null CREB1_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Cytoplasmic region COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.386 Brain - Cortex GTEx Tissue Gene Expression Profiles 2023 1.0 2.24881 animal TISSUES Experimental Tissue Protein Expression Evidence Scores 1.0 1.53602 Seratrodast DeepCoverMOA Drug Mechanisms of Action -1.0 -0.29 AD-28-GJ71_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.247143 H3K4me1_Brain Substantia Nigra Roadmap Epigenomics Histone Modification Site Profiles 1.0 null PML ENCODE Transcription Factor Targets 1.0 null flucytosine-6690 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null abnormality of the head HPO Gene-Disease Associations 1.0 null Lung adenocarcinoma_LUAD_TCGA-91-6835-11A-01R-1858-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null sitosterol-7332 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null rib bifurcation MGI Mouse Phenotype Associations 2023 1.0 null blindness DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.255241 CTCF_fibroblast of pedal digit skin_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Weyers acrofacial dysostosis DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.127 physical disorder DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.610448 KDM5A_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null toe syndactyly HPO Gene-Disease Associations 1.0 null UBTF ENCODE Transcription Factor Targets 1.0 null BRD-K14359942 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -4.14311 AD-51-SS86_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.221921 H3K4me3_olfactory bulb_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-QEG5-0006-SM-2I5FZ GTEx Tissue Sample Gene Expression Profiles -1.0 -1.13195 Kidney renal clear cell carcinoma_KIRC_TCGA-BP-4988-01A-01R-1334-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-QCQG-0006-SM-2S1OW GTEx Tissue Sample Gene Expression Profiles -1.0 -1.15621 BRD-K53617314 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.79112 Implantation fossa TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.053 bonemarrow_5a HPA Tissue Sample Gene Expression Profiles -1.0 -1.11929 BRD-A14424697 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.09343 dc96 TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.264 DD-74-PJ26_0.01uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.235585 Kidney renal clear cell carcinoma_KIRC_TCGA-CZ-5986-01A-11R-1672-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null H3K4me3_fibroblast of lung_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null trichostatin A-5441 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null BRCA1_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K02393180 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.30601 PMC6196654__F1 PFOCR Pathway Figure Associations 2023 1.0 null copper sulfate-459 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null chordate embryonic development GO Biological Process Annotations 2015 1.0 null EF-74-KW12_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.327035 USF1_SK-N-SH_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Pronephric duct TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.093 GTEX-XAJ8-1126-SM-47JYA GTEx Tissue Sample Gene Expression Profiles 1.0 0.978113 PMC3889689-elife01439s001.xls-RFX2_rnaseq_chip_DirectDE_final-ENSG_ID_RFX2 Rummagene Transcription Factor Associations 2026 1.0 null spleen HPA Tissue Protein Expression Profiles -1.0 -0.772898 CRCGN013_HEPG2_24H:N14 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.30345 abnormal maxilla morphology MPO Gene-Phenotype Associations 1.0 null NCI-H889 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 3.24385 H2AFZ_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Infertility, Female CTD Gene-Disease Associations 1.0 1.52642 STAC2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00683394 GSE182185_0_v_1_pstk_human RummaGEO Gene Perturbation Signatures -1.0 null quipazine-1789 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null lingual gyrus, right, striate Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.22339 Bladder Urothelial Carcinoma_BLCA_TCGA-FD-A3SJ-01A-12R-A22U-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K44402256 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.83815 GSE210101,GSE210114_2_v_9_urod_human RummaGEO Gene Perturbation Signatures 1.0 null NFYA_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null DJM-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null BRD-K18621941 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.09446 protein localization to cell periphery GO Biological Process Annotations 2025 1.0 null Cell body COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.739 HIV-1_LAI_12Hour-UV_treatment_None_GSE56484 GEO Signatures of Differentially Expressed Genes for Viral Infections -1.0 -1.78451 abnormality of the respiratory system HPO Gene-Disease Associations 1.0 null POU2F2 ENCODE Transcription Factor Targets 1.0 null H3K79me2_osteoblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-WL46-0011-R11A-SM-3MJFT GTEx Tissue Sample Gene Expression Profiles 1.0 0.856998 GTEX-S4P3-0226-SM-3K2BD GTEx Tissue Sample Gene Expression Profiles 1.0 1.07172 GTEX-Q2AI-0006-SM-2I3FG GTEx Tissue Sample Gene Expression Profiles -1.0 -1.53493 KDM4A ENCODE Transcription Factor Targets 1.0 null GTEX-OIZG-0005-SM-2HMJC GTEx Tissue Sample Gene Expression Profiles -1.0 -1.26189 Photoreceptor cell cilium COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 4.0 generalized abnormality of skin HPO Gene-Disease Associations 1.0 null central nucleus of inferior colliculus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.10435 PMC6904118-NIHMS1544763-supplement-5.xlsx-MYB_Individual-MYB_sgRNA-7_MYB Rummagene Transcription Factor Associations 2026 1.0 null BRCA1_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE198165,GSE198166_0_v_3_zfp266_mouse RummaGEO Gene Perturbation Signatures -1.0 null Pericentriolar material COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.89 GSE71674,GSE71676_0_v_2_cbfa2t2_mouse RummaGEO Gene Perturbation Signatures 1.0 null core part of DTg Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.30852 CTCF_GM12870_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H2AFZ_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null urinary bladder HPA Tissue Protein Expression Profiles -1.0 -0.772898 Perturb_169_KO_Cebpd_SRP316336 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -20.0 Respiratory system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.03 CTCF_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null embryonic limb morphogenesis GO Biological Process Annotations 2015 1.0 null GSE216273,GSE216292_14_v_2_palbociclib_human RummaGEO Drug Perturbation Signatures 1.0 null Asphyxiating thoracic dystrophy 5 ClinVar Gene-Phenotype Associations 1.0 null GTEX-Q734-0526-SM-2I3EH GTEx Tissue Sample Gene Expression Profiles 1.0 0.903216 Congenital heart disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.635 BRD-K25974714 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.22364 LXF-289 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.865148 head TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.051629 SN12C COSMIC Cell Line Gene Mutation Profiles 1.0 null H3K4me2_A549_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null FU-OV-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null BRD-K30071505 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.07089 PB-09-OE00_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.416692 BRD-K29120026 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.26624 GTEX-SSA3-0005-SM-32QOT GTEx Tissue Sample Gene Expression Profiles -1.0 -1.1666 abnormality of the immune system HPO Gene-Disease Associations 1.0 null PAIP1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.00146 inner CP in midlateral extrastriate cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.88536 CBX3 ENCODE Transcription Factor Targets 1.0 null YY1_K562_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null RCM-1 COSMIC Cell Line Gene Mutation Profiles 1.0 null deviation of the 5th finger HPO Gene-Disease Associations 1.0 null HOXC12 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.19364 intracellular part COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 H3K4me2_osteoblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_keratinocyte_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null non-motile cilium GO Cellular Component Annotations 2023 1.0 null LY-294002-1074 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null POLR2A_HeLa-S3_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null Perturb_7547_KO_CNOT1_SRP282906 PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 -4.26161 r9 part of the inferior olive Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.80222 GTEX-QMR6-0011-R11A-SM-32PKK GTEx Tissue Sample Gene Expression Profiles 1.0 1.06022 GTEX-VJWN-0005-SM-3GIKF GTEx Tissue Sample Gene Expression Profiles -1.0 -1.21001 Atrophic Macular Change DisGeNET Gene-Phenotype Associations 1.0 null H3K4me3_cardiac mesoderm_hg19_8 ENCODE Histone Modification Site Profiles 1.0 null GSE81796_0_v_1_enzalutamide_human RummaGEO Drug Perturbation Signatures 1.0 null Chromosomal disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.05 SNU-1040 COSMIC Cell Line Gene Mutation Profiles 1.0 null GSE215351,GSE215794_1_v_3_kdm8_mouse RummaGEO Gene Perturbation Signatures 1.0 null GTEX-R55F-1226-SM-2TF59 GTEx Tissue Sample Gene Expression Profiles 1.0 1.3696 CRCGN015_MCF10A.TP53.M_24H:C22 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 6.0366 H9 COSMIC Cell Line Gene Mutation Profiles 1.0 null USF1_HCT116_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null brain TISSUES Curated Tissue Protein Expression Evidence Scores 1.0 null CRCGN015_MCF10A.WT.HP_24H:K08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 7.85837 FOSL2_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Intellectual disability DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.627 Mitotic spindle pole COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.969 hsa-miR-4699-3p TargetScan Predicted Conserved microRNA Targets 1.0 0.32519 H3K4me2_mammary epithelial cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null VZ in caudal hippocampal proper Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.7259 Kidney renal clear cell carcinoma_KIRC_TCGA-B0-5094-01A-01R-1420-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null alpha-estradiol-990 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BHLHE40_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K27ac_A549_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_G1E_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_epithelial cell of proximal tubule_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null BRD-K67868012_PI-103_HA1E_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Kidney renal papillary cell carcinoma_KIRP_TCGA-UZ-A9PN-01A-11R-A38C-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null DHRS9 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00399226 Posterior hypothalamic nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.13497 ATF3 ENCODE Transcription Factor Targets 1.0 null Cleft lip DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.68 BRD-K81418486_vorinostat_SKM1_6.0_h_11.1_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null OXA1L CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.32198 CTCF_SK-N-SH_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-OIZH-0005-SM-2HMJN GTEx Tissue Sample Gene Expression Profiles -1.0 -1.84094 Eversion Of Lower Lip DisGeNET Gene-Phenotype Associations 1.0 null GSE182680,GSE182683_5_v_8_dexamethasone_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K96280720 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.39797 H3K4me1_kidney_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null abnormal mouth morphology MPO Gene-Phenotype Associations 1.0 null ABCG2 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00522586 H3K27ac_myotube_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null WD40 repeat InterPro Predicted Protein Domain Annotations 1.0 null Flagellate TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.613 Choroideremia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.009 CRCGN015_MCF10A.TP53.M_24H:K08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 7.05175 19010862-TableS1 GeneSigDB Published Gene Signatures 1.0 null H3K27ac_Mobilized CD34 Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GSE158431_2_v_6_pioglitazone_mouse RummaGEO Drug Perturbation Signatures 1.0 null Locally Recurrent Malignant Neoplasm DisGeNET Gene-Disease Associations 1.0 null CAL27 CCLE Cell Line Gene CNV Profiles 1.0 2.0017 dentate gyrus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.6998 streptozocin-5836 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BACH1 ENCODE Transcription Factor Targets 1.0 null GTEX-OIZH-1626-SM-2HMKI GTEx Tissue Sample Gene Expression Profiles -1.0 -0.967199 KARPAS-45 COSMIC Cell Line Gene Mutation Profiles 1.0 null GSE164483_2_v_0_venetoclax_mouse RummaGEO Drug Perturbation Signatures -1.0 null Urogenital ridge TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.788 ZC3H11A_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2A_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BC-25-VR48_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.288635 SNU-182 COSMIC Cell Line Gene Mutation Profiles 1.0 null CLPP_KO_GDS4791_375_mouse_liver GEO Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 null dehydrocholic acid-2023 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormal bone ossification MPO Gene-Phenotype Associations 1.0 null BRD-K45941986 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.21843 primary motor cortex (area M1, area 4)_37 yrs_M_12303 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.836753 GTEX-X4LF-0006-SM-3NMCO GTEx Tissue Sample Gene Expression Profiles -1.0 -0.90402 GSE192513,GSE192515_1_v_0_atg16l1_mouse RummaGEO Gene Perturbation Signatures -1.0 null RERFLCAD1 CCLE Cell Line Gene CNV Profiles 1.0 1.75601 H3K9ac_K562_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null ELF1_SK-N-SH_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-T5JC-0011-R11A-SM-32PMB GTEx Tissue Sample Gene Expression Profiles 1.0 1.57137 GTEX-T2IS-3126-SM-32QPK GTEx Tissue Sample Gene Expression Profiles 1.0 1.92939 Ciliary vesicle COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.796 GTEX-U3ZG-0006-SM-47JWX GTEx Tissue Sample Gene Expression Profiles -1.0 -1.91823 GSE142210_3_v_6_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null Overnutrition DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.179 MYC-19915707-AK7-human ChEA Transcription Factor Binding Site Profiles 1.0 null ES3 GDSC Cell Line Gene Expression Profiles 1.0 1.62516 short phalanx of finger HPO Gene-Disease Associations 1.0 null syndromes GeneRIF Biological Term Annotations 1.0 null GTEX-S95S-1426-SM-2XCDM GTEx Tissue Sample Gene Expression Profiles -1.0 -0.949492 abnormal interparietal bone morphology MPO Gene-Phenotype Associations 1.0 null H3K27ac_heart_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null primary visual cortex (striate cortex, area V1/17)_8 yrs_M_12981 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.21103 A-Vietnam-1203_CIP048_RG4-2004(H5N1)PB2-627E_2day-MOI-10^4_None_GSE43301 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 1.61683 embryo development ending in birth or egg hatching GO Biological Process Annotations 2015 1.0 null trichostatin A-5981 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null TEAD4 ENCODE Transcription Factor Targets 1.0 null GSE171401_1_v_2_adnp_mouse RummaGEO Gene Perturbation Signatures -1.0 null PMC12068594-pgen.1011693.s007.xlsx-MCR_vs_MCB-gene_id_NR3C2 Rummagene Transcription Factor Associations 2026 1.0 null ATF1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null MAX_MCF-7_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_Brain Substantia Nigra Roadmap Epigenomics Histone Modification Site Profiles 1.0 null trichostatin A-2777 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null torasemide-3517 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null H3K4me3_myotube_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GSE193282_2_v_0_cd44_mouse RummaGEO Gene Perturbation Signatures -1.0 null POLR2A_MCF 10A_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_HL-60_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Meckel syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.145 U2AF1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.33761 CTCF_GM19238_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null NCI-H522 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.835936 dorsolateral prefrontal cortex_37 yrs_M_12303 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.76072 GSE158431_5_v_7_pioglitazone_mouse RummaGEO Drug Perturbation Signatures -1.0 null H3K4me3_cardiac muscle cell_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null NRF1_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K67566344_KU-0063794_HA1E_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null UBA2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.27947 non-membrane-bounded organelle COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.054248 CRCGN008_HEPG2_24H:A04 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.0059 GTEX-POYW-0826-SM-2XCEM GTEx Tissue Sample Gene Expression Profiles 1.0 1.83747 Hypertrophy CTD Gene-Disease Associations 1.0 1.55304 H3K4me1_A549_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null CTCF_endothelial cell of umbilical vein_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null bethanechol-3537 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null abnormal cranium morphology MPO Gene-Phenotype Associations 1.0 null BL2687 (ZBTB7A) NURSA Protein Complexes 1.0 null BRD-K30292003 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.12351 digestive system development GO Biological Process Annotations 2015 1.0 null H3K4me3_endothelial cell of umbilical vein_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null ZBTB33_HepG2_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K81758631 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.51199 BRD-K59522787 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.9967 GSE142232,GSE142234_0_v_3_gcgr_mouse RummaGEO Gene Perturbation Signatures 1.0 null GSE210101,GSE210114_6_v_9_urod_human RummaGEO Gene Perturbation Signatures 1.0 null NCIH358 CCLE Cell Line Gene CNV Profiles 1.0 1.44688 H3K4me1_CD4+ CD25- CD45RO+ Memory Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Perturb_16476_KD_Ripk4_SRP173803 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations 1.0 1.54517 Photoreceptor connecting cilium COMPARTMENTS Curated Protein Localization Evidence Scores 2025 1.0 4.0 H3K4me3_mammary epithelial cell_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null germ layer TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.066666 CPS1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.01609 SLC25A28 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.04573 CTCF_WI38_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null pentolonium-4699 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null SIN3A_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K31250130 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.51317 FE-82-WB22_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.285103 SIN3A_SK-N-SH_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null PMC11447041-41598_2024_74391_MOESM4_ESM.xlsx-B_ATF4-def_Tg_2_vs_DMSO_2-Unnamed_1_ATF4 Rummagene Transcription Factor Associations 2026 1.0 null BRD-K43620258_3,5-dichloro-2-hydroxy-N-(2-methoxy-5-phenylphenyl)benzenesulfonamide_PC3_24.0_h_80.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null POLR2AphosphoS5_HCT116_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE149010_0_v_4_dars2_mouse RummaGEO Gene Perturbation Signatures 1.0 null MAFF ENCODE Transcription Factor Targets 1.0 null amygdaloid complex_4 yrs_M_12298 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.53763 CCNT2 ENCODE Transcription Factor Targets 1.0 null GTEX-S7PM-0526-SM-3NM92 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.09247 Pseudoretinitis pigmentosa DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.042 IRF4_01_262 KnockTF Gene Expression Profiles with Transcription Factor Perturbations -1.0 -0.61421 arl6 TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 2.393 abnormality of the anterior segment of the eye HPO Gene-Disease Associations 1.0 null Retinal disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.083 pituitary GTEx Tissue Gene Expression Profiles 1.0 1.51872 CCRT CEM BioGPS Cell Line Gene Expression Profiles -1.0 -2.82182 ZBTB33 ENCODE Transcription Factor Targets 1.0 null nephronophthisis 13 OMIM Gene-Disease Associations 1.0 null GTEX-TSE9-0326-SM-3DB82 GTEx Tissue Sample Gene Expression Profiles 1.0 1.14209 Motor nucleus of trigeminal Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.00325 TCCPAN2 CCLE Cell Line Gene Expression Profiles -1.0 -1.95318 UBTF_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Brain Lower Grade Glioma_LGG_TCGA-HT-7473-01A-11R-2027-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K24659381 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.43008 H3K4me1_testis_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null GTEX-QESD-0006-SM-2I5G6 GTEx Tissue Sample Gene Expression Profiles -1.0 -1.61178 GSE209598_0_v_3_tgfbr2_mouse RummaGEO Gene Perturbation Signatures 1.0 null PMC8872993-41380_2021_1274_MOESM4_ESM.xlsx-Table_S6-Supplementary_Table_S6_Differentially-Expressed_Genes_after_T-3_KD_in_hiPSC-derived_Astrocytes_AR Rummagene Transcription Factor Associations 2026 1.0 null cone-rod dystrophy DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.709572 BRD-K93374700 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.3715 hippocampus (hippocampal formation)_13 pcw_F_12834 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.913374 H3K79me2_keratinocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K78082598 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.26959 GTEX-S3XE-1926-SM-3K2B3 GTEx Tissue Sample Gene Expression Profiles 1.0 0.97646 GSE207582_4_v_3_testosterone_mouse RummaGEO Drug Perturbation Signatures -1.0 null CRCGN016_MCF10A.WT.HP_24H:P23 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.88838 hippocampus (hippocampal formation)_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.33033 NCI-H358 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.843171 SAP30 ENCODE Transcription Factor Targets 1.0 null BRD-K34808207 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.87278 CRCGN008_HEPG2_24H:K08 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 3.4605 NCI-H1781 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.60687 metanephrine-5334 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null CDAN1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 3.53608 regulated GeneRIF Biological Term Annotations 1.0 null TestisIntersitial BioGPS Human Cell Type and Tissue Gene Expression Profiles 1.0 1.75304 indometacin-7409 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE193258,GSE193259_2_v_4_osimertinib_human RummaGEO Drug Perturbation Signatures 1.0 null GSE226249_0_v_4_pirfenidone_human RummaGEO Drug Perturbation Signatures -1.0 null GSE135030_11_v_5_fludarabine_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me1_K562_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null BRD-K78902613 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.41566 GTEX-WHSB-1626-SM-3LK6J GTEx Tissue Sample Gene Expression Profiles 1.0 0.966601 SEC63 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.45988 BRD-K30312557 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.44681 organelle assembly GO Biological Process Annotations 2023 1.0 null Choanomastigote TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.906 USF1_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-X4XX-0926-SM-46MV7 GTEx Tissue Sample Gene Expression Profiles 1.0 1.74801 Hydrolethalus syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.838 GSE118077_7_v_2_sprr5_human RummaGEO Gene Perturbation Signatures -1.0 null LA-42-ER00_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.25311 icSARS-Cov_Day2_None_GSE50000 GEO Signatures of Differentially Expressed Genes for Viral Infections 1.0 2.42444 BRD-K41009039 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.53638 Toe TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.078 GSE198165,GSE198166_8_v_2_zfp266_mouse RummaGEO Gene Perturbation Signatures 1.0 null Pheochromocytoma and Paraganglioma_PCPG_TCGA-W2-A7HB-01A-11R-A35L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null MTA3 ENCODE Transcription Factor Targets 1.0 null OCT4-19829295-ESCS-HUMAN ChEA Transcription Factor Targets 2022 1.0 null ATF2_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Pancreas BioGPS Human Cell Type and Tissue Gene Expression Profiles -1.0 -1.0319 biological_process GO Biological Process Annotations 2015 1.0 null KANK3 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00570082 YMB-1-E COSMIC Cell Line Gene Mutation Profiles 1.0 null RAD21_MCF-7_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null VZ in midlateral extrastriate cortex (area 19) Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.29897 GSE57871_1_v_9_vorinostat_human RummaGEO Drug Perturbation Signatures 1.0 null USF1_SK-N-SH_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null CTCF_GM06990_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null HNF1B JASPAR Predicted Human Transcription Factor Targets 2025 1.0 32.0258 hsa-miR-4429 TargetScan Predicted Nonconserved microRNA Targets 1.0 1.2992 dorsal peduncular cortex, periventricular part Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.19363 POLR2A_GM19193_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K4me3_Colonic Mucosa Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Perturb_16585_KO_Bmal1_SRP217335 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -3.20105 H3K4me1_G1E_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null abnormality of the ear HPO Gene-Disease Associations 1.0 null nervous system disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null vascular disease GWASdb SNP-Disease Associations 1.0 0.079578 CHD7 ENCODE Transcription Factor Targets 1.0 null BRD-K81418486_vorinostat_MCF7_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Hemorrhage CTD Gene-Disease Associations 1.0 1.23712 H3K4me2_endothelial cell of umbilical vein_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null NFYB_GM12878_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null skeletalmuscle_e HPA Tissue Sample Gene Expression Profiles -1.0 -1.96097 abnormality of the face HPO Gene-Disease Associations 1.0 null GSE137177_2_v_0_folic acid_mouse RummaGEO Drug Perturbation Signatures 1.0 null Magnocellular reticular nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.58653 SW1271 COSMIC Cell Line Gene Mutation Profiles 1.0 null MS751 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.27447 KA-75-LP02_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.285176 Medial amygdalar nucleus, posterodorsal part, sublayer b Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.24333 BRD-K02708799_GSK-1059615_LNCAP_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GSE111247_11_v_4_temozolomide_human RummaGEO Drug Perturbation Signatures -1.0 null BE-79-QU25_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.210106 SAT2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.20004 mantle zone of r2Tr Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.1037 BRD-K69408624 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.33572 membrane organization GO Biological Process Annotations 2015 1.0 null Septin ring COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.603 abnormal dermomyotome development MPO Gene-Phenotype Associations 1.0 null BICR78 DepMap CRISPR Gene Dependency 1.0 3.19499 primary motor cortex (area M1, area 4)_1 yrs_F_12830 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.5726 caudal presubiculum (postsubiculum) Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.61324 BRD-K79561909 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.04929 BRD-K87386611 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.67352 intracellular COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.242076 GSE90710_1_v_0_med13_mouse RummaGEO Gene Perturbation Signatures 1.0 null H3K79me2_astrocyte_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GSE218727_2_v_1_zkscan3_human RummaGEO Gene Perturbation Signatures 1.0 null GSE217405_0_v_1_egfr_mouse RummaGEO Gene Perturbation Signatures 1.0 null periventricular stratum of r6Co Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.45918 HNF4A-19822575-HepG2-human ChEA Transcription Factor Binding Site Profiles 1.0 null E2F4 ENCODE Transcription Factor Targets 1.0 null tiletamine-7311 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null PAX5 ENCODE Transcription Factor Targets 1.0 null Pheochromocytoma and Paraganglioma_PCPG_TCGA-QR-A708-01A-11R-A35K-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PDS5A LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00463376 BRD-K63119190 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.83395 mIMCD-3 cell TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.009 MXI1 ENCODE Transcription Factor Targets 1.0 null somite TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.619814 CTCF_bronchial epithelial cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-XUJ4-1326-SM-4BOQ9 GTEx Tissue Sample Gene Expression Profiles 1.0 1.47532 Hypertension CTD Gene-Disease Associations 1.0 1.34459 H3K9ac_H9 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null HUPT4 DepMap CRISPR Gene Dependency 1.0 8.64297 USF1_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null YY1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Abnormality Of Retinal Pigmentation DisGeNET Gene-Phenotype Associations 1.0 null abnormal somite development MGI Mouse Phenotype Associations 2023 1.0 null GSE205550,GSE205552_2_v_1_doxorubicin_mouse RummaGEO Drug Perturbation Signatures -1.0 null regulation of cellular process GO Biological Process Annotations 2015 1.0 null Perturb_700_KO_INTS6_SRP299234 PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations -1.0 -12.0875 EZH2_H1-hESC_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null NRF1_SK-N-SH_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K27ac_CD4 Naive Primary Cells Roadmap Epigenomics Histone Modification Site Profiles 1.0 null GTEX-NFK9-0006-SM-3GACS GTEx Tissue Sample Gene Expression Profiles -1.0 -2.14468 POLR2A_erythroblast_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K07928699 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.98954 USF1_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-S4Q7-0006-SM-3K2AT GTEx Tissue Sample Gene Expression Profiles -1.0 -1.14515 GTEX-WH7G-0005-SM-3NMBX GTEx Tissue Sample Gene Expression Profiles -1.0 -2.8376 GTEX-R55E-2726-SM-48FCX GTEx Tissue Sample Gene Expression Profiles 1.0 1.32369 GTEX-R55F-0226-SM-48FCI GTEx Tissue Sample Gene Expression Profiles 1.0 0.841305 GSE126463_6_v_2_pomalidomide_human RummaGEO Drug Perturbation Signatures -1.0 null abnormality of cranial sutures HPO Gene-Disease Associations 1.0 null MXI1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K26994486 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.15156 CCKBR CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.00521 area postrema Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.6516 H3K4me3_fibroblast of dermis_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null GSE115542_2_v_4_digoxin_human RummaGEO Drug Perturbation Signatures 1.0 null IMP4 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.03341 emboliform nucleus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.51726 GTEX-WRHU-1226-SM-4E3IJ GTEx Tissue Sample Gene Expression Profiles -1.0 -0.952134 BRD-K82638914 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.13352 Bladder Urothelial Carcinoma_BLCA_TCGA-LT-A5Z6-01A-11R-A28M-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Abnormality Of The Liver DisGeNET Gene-Phenotype Associations 1.0 null H3K27ac_endothelial cell of umbilical vein_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null striatum_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 0.862111 whole body TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.052113 layer 6 of PrS Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.52029 Plastid outer membrane COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.855 abnormal craniofacial morphology MPO Gene-Phenotype Associations 1.0 null A549 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null BRD-K28351377 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.18911 OPM-2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.902767 MCF7_AR-42_10µM_24h Sci-Plex Drug Perturbation Signatures 1.0 0.00754945 BRD-K19411393 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.24752 H3K4me1_G1E_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null KP1N DepMap CRISPR Gene Dependency 1.0 3.7721 GSE221020,GSE221023_2_v_0_pten_mouse RummaGEO Gene Perturbation Signatures 1.0 null GSE178714_1_v_4_smad2_human RummaGEO Gene Perturbation Signatures 1.0 null BRD-A08759443 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 4.09865 Postaxial Foot Polydactyly DisGeNET Gene-Disease Associations 1.0 null GSE169356_0_v_5_ivermectin_human RummaGEO Drug Perturbation Signatures 1.0 null ventrolateral prefrontal cortex_21 yrs_F_13057 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.38311 BRD-K67868012_PI-103_HA1E_24_h_0.37_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CTCF_mammary epithelial cell_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K99331577 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.55918 OS-RC-2 COSMIC Cell Line Gene Mutation Profiles 1.0 null CHD1_H1-hESC_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null ionomycin-871 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null intraciliary transport particle a COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 HCT-8 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null ZNF143_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null superficial stratum of PO2 Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.30367 MYC_MCF-7_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null clindamycin-1373 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null HDAC1 ENCODE Transcription Factor Targets 1.0 null Inferior olivary complex Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.83381 organelle part COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 H3K4me3_G1E-ER4_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null BRD-K64329997 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.39905 primary motor cortex (area M1, area 4)_4 mos_M_12890 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -1.4626 HCC70 GDSC Cell Line Gene Expression Profiles -1.0 -1.55694 GTEX-REY6-0826-SM-2TF4S GTEx Tissue Sample Gene Expression Profiles -1.0 -0.906411 GSE234340_1_v_2_muc2_mouse RummaGEO Gene Perturbation Signatures -1.0 null amygdaloid complex_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.40128 GTEX-WXYG-0005-SM-3NB3M GTEx Tissue Sample Gene Expression Profiles -1.0 -1.23665 Brachydactyly DisGeNET Gene-Disease Associations 1.0 null Wes TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.142 CTCF_skin fibroblast_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null ventrolateral prefrontal cortex_11 yrs_F_12289 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq -1.0 -0.927539 Edema CTD Gene-Disease Associations 1.0 1.173 G-361 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -0.865148 SPI1 ChEA Transcription Factor Targets 1.0 null inferolateral temporal cortex (area TEv, area 20)_21 yrs_F_13057 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -0.971612 posterior (caudal) superior temporal cortex (area 22c)_17 pcw_F_12880 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 0.859191 NCIH889 CCLE Cell Line Gene Expression Profiles 1.0 2.39508 GSE186440,GSE186443_0_v_5_daxx_human RummaGEO Gene Perturbation Signatures 1.0 null TAF1_K562_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null Meckel syndrome 1 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.643 eye TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.066983 dentate nucleus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -1.58588 Gravid adult TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.739 L-540 COSMIC Cell Line Gene Mutation Profiles 1.0 null abnormality of the nephron HPO Gene-Disease Associations 1.0 null GTEX-VJYA-0426-SM-3GIJK GTEx Tissue Sample Gene Expression Profiles 1.0 0.923401 CTCF_epithelial cell of esophagus_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null H3K27me3_NT2-D1_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null hsa-miR-148a TargetScan Predicted Nonconserved microRNA Targets 1.0 0.809003 NFYB JASPAR Predicted Human Transcription Factor Targets 2025 1.0 24.9331 abnormal limb bone morphology MPO Gene-Phenotype Associations 1.0 null Sperm head COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.449 craniofacial phenotype MPO Gene-Phenotype Associations 1.0 null retropontine reticular area Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.57136 embryonic structure TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 0.052404 primary somatosensory cortex (area S1, areas 3,1,2)_36 yrs_M_12302 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 1.52042 Cell Transformation, Neoplastic CTD Gene-Disease Associations 1.0 1.51582 COX14 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.36416 broad finger HPO Gene-Disease Associations 1.0 null Sarcoma_SARC_TCGA-DX-A6YZ-01A-12R-A355-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null 7455_RPL27_P1P2 Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures 1.0 1.72224 CTCF_GM12801_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null POLR2A_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null PMC4387713-supp_gad.255984.114_Table_S5.xlsx-S5E-Down_H3K27me3_DPY30_KD-Unnamed_12_AR Rummagene Transcription Factor Associations 2026 1.0 null BRD-K63068307_ZSTK-474_HA1E_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null valproic acid-5206 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null trichostatin A-1014 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null FOXO3 ChEA Transcription Factor Targets 1.0 null Prostate adenocarcinoma_PRAD_TCGA-YL-A8SJ-01B-11R-A37L-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Rhomboid nucleus Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.19092 mediodorsal nucleus of thalamus_4 mos_M_12296 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.67083 MIA3 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.15481 Nystagmus DisGeNET Gene-Phenotype Associations 1.0 null H3K27ac_IMR90 Roadmap Epigenomics Histone Modification Site Profiles 1.0 null Chronic Kidney Disease DisGeNET Gene-Disease Associations 1.0 null MDA-MB-453 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.936478 POLR2A_GM12878_hg19_4 ENCODE Transcription Factor Binding Site Profiles 1.0 null Sarcoma_SARC_TCGA-SI-AA8C-01A-11R-A38C-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Disease of metabolism DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.3 Chondrodysplasia DisGeNET Gene-Disease Associations 1.0 null Developmental disorder of mental health DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.495 aplasia/hypoplasia of toe HPO Gene-Disease Associations 1.0 null thymus BioGPS Mouse Cell Type and Tissue Gene Expression Profiles -1.0 -1.08149 TFAP2C ChEA Transcription Factor Targets 1.0 null GTF2F1_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE193402_0_v_1_imatinib_human RummaGEO Drug Perturbation Signatures 1.0 null Human Herpesvirus 8 Infection DisGeNET Gene-Disease Associations 1.0 null GATA3 JASPAR Predicted Transcription Factor Targets 1.0 null Cystic kidney disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.334 Asphyxiating thoracic dystrophy 3 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.395 colchicine-644 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null H3K4me2_fibroblast of dermis_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null Retinitis pigmentosa DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 2.251 GTEX-N7MS-2625-SM-3LK77 GTEx Tissue Sample Gene Expression Profiles 1.0 1.0057 GTEX-PX3G-0326-SM-2I3EO GTEx Tissue Sample Gene Expression Profiles -1.0 -0.870239 abdominal wall defect HPO Gene-Disease Associations 1.0 null cell projection GO Cellular Component Annotations 2015 1.0 null VZ in dorsomedial extrastriate cortex (V2) Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.29216 WD40/YVTN repeat-like-containing domain InterPro Predicted Protein Domain Annotations 1.0 null phenotypes GeneRIF Biological Term Annotations 1.0 null Pronephric tubule TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.915 medial habenular nucleus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 1.83075 kidney disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null BRD-K84974041 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.40291 GSE116810_5_v_0_selinexor_human RummaGEO Drug Perturbation Signatures -1.0 null Dextrocardia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.174 GTEX-WYVS-0326-SM-3NM9V GTEx Tissue Sample Gene Expression Profiles 1.0 1.00144 TRIM28_HEK293_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null MAX_HepG2_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null nucleus of Darkschewitsch, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -0.975348 NUGC-4 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.08627 lateral subdivision of BNST Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.12495 inferior olive, principal nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -0.917399 Kidney renal papillary cell carcinoma_KIRP_TCGA-PJ-A5Z8-01A-11R-A28H-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null feeding difficulties in infancy HPO Gene-Disease Associations 1.0 null CTCF_cardiac muscle cell_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null WDR5-24793694-LNCAP-HUMAN ChEA Transcription Factor Targets 2022 1.0 null NCI-H2198 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles 1.0 0.958298 IRF4 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 45.7704 TAF1_ECC-1_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null recurrent lower respiratory tract infections HPO Gene-Disease Associations 1.0 null orbital frontal cortex_30 yrs_F_12290 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -1.23781 Disease of anatomical entity DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.938 BRD-K28319429 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.25675 MELJUSO_SKIN CCLE Cell Line Proteomics 1.0 5.51876 MYC_K562_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE239844_6_v_9_crizotinib_human RummaGEO Drug Perturbation Signatures 1.0 null H3K4me3_foreskin fibroblast_hg19_3 ENCODE Histone Modification Site Profiles 1.0 null BRD-K38046923 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.68586 KMS34 CCLE Cell Line Gene CNV Profiles -1.0 -1.32563 sodium phenylbutyrate-434 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null GSE123502,GSE123504_1_v_0_chd4_mouse RummaGEO Gene Perturbation Signatures 1.0 null FF-86-NH56_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.37024 PI4KA LINCS L1000 CMAP CRISPR Knockout Consensus Signatures -1.0 -0.00528717 496100523_HIP_possible Alzheimer's disease_no TBI_90-94_M Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles -1.0 -3.19638 parietal bone hypoplasia MPO Gene-Phenotype Associations 1.0 null TADA1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.8895 Kidney renal clear cell carcinoma_KIRC_TCGA-B0-4813-01A-01R-1277-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CTCF_A549_hg19_9 ENCODE Transcription Factor Binding Site Profiles 1.0 null Cone dystrophy ClinVar Gene-Phenotype Associations 2025 1.0 null HS852T DepMap CRISPR Gene Dependency 1.0 4.49772 BRD-K74305673_IMD 0354_HA1E_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Glucose Intolerance CTD Gene-Disease Associations 1.0 1.31837 cause GeneRIF Biological Term Annotations 1.0 null lateral mammillary nucleus, left Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.84005 TAF1_PFSK-1_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K00337317_NU-7441_HT29_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null WRNIP1 ENCODE Transcription Factor Targets 1.0 null primary cilium GO Cellular Component Annotations 2015 1.0 null ZBTB33_GM12878_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null CHD2_HeLa-S3_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null FOXA1_T47D_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-QV31-0726-SM-3GAEG GTEx Tissue Sample Gene Expression Profiles 1.0 0.913267 abnormality of the upper limb HPO Gene-Disease Associations 1.0 null BRD-K30372674 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.3119 POLR2AphosphoS2_myocyte_mm9_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null hernia of the abdominal wall HPO Gene-Disease Associations 1.0 null BRD-K75703503 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.45449 periventricular stratum of RtC Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.0674 Crouzon syndrome DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.194 Anemia CTD Gene-Disease Associations 1.0 1.31208 GSE142210_11_v_5_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null non-membrane-bounded organelle GO Cellular Component Annotations 2015 1.0 null MDAMB436 Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles 1.0 0.644477 Pheochromocytoma and Paraganglioma_PCPG_TCGA-P8-A6RY-01A-12R-A35K-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null Drug-Related Side Effects and Adverse Reactions CTD Gene-Disease Associations 1.0 1.27347 SNU-387 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.14682 trichostatin A-3979 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null C170 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles 1.0 null BRD-K09499853_KU 0060648 trihydrochloride_PC3_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null trichostatin A-7550 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null 16478745-SuppTable1-short GeneSigDB Published Gene Signatures 1.0 null vorinostat-6980 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null CTCF_GM12869_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Hallux TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.077 Cortical amygdalar area, anterior part, layer 1 Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.51269 Central linear nucleus raphe Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.06073 GSE222047_0_v_1_imidazole_human RummaGEO Drug Perturbation Signatures 1.0 null disease of anatomical entity GWASdb SNP-Disease Associations 1.0 0.027056 cc96 TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.004 GTEX-WHSB-1826-SM-3TW8M GTEx Tissue Sample Gene Expression Profiles -1.0 -0.850907 GA-88-CF36_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.262645 USF1_HCT116_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Manchette COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.459 15-delta prostaglandin J2-6990 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K34595616 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.21761 CTCF_GM12868_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K33734659 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.87068 Bladder Urothelial Carcinoma_BLCA_TCGA-ZF-A9RC-01A-11R-A38B-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-TSE9-0005-SM-4DXUF GTEx Tissue Sample Gene Expression Profiles -1.0 -1.83531 occipital pole, left, inferior aspect Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.968874 plasma membrane bounded cell projection assembly GO Biological Process Annotations 2025 1.0 null developmental process GO Biological Process Annotations 2015 1.0 null BRD-K26734305 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.13251 protein complex COMPARTMENTS Text-mining Protein Localization Evidence Scores 1.0 0.279612 GSE156115_2_v_1_igf2_mouse RummaGEO Gene Perturbation Signatures -1.0 null superior olivary complex, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles -1.0 -0.918976 dexibuprofen-5311 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormality of skin morphology HPO Gene-Disease Associations 1.0 null PMC11743796-41420_2025_2295_MOESM5_ESM.xlsx-aged_LPS_BV-2_vs_human_downreg-mouse_IRF6 Rummagene Transcription Factor Associations 2026 1.0 null VZ in inferolateral temporal cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.85582 diflunisal-4794 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null cell surface receptor signaling pathway GO Biological Process Annotations 2015 1.0 null Genetic disease DISEASES Curated Gene-Disease Association Evidence Scores 2025 1.0 4.0 SNU-C1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.04407 PMC7899648-elife-61630-supp2.xlsx-Blad1-Subset_of_TFE3_targets_upregulated_in_FLCNNEG_RPTEC_cluster_3_boxed_yellow_in_Figure_3A_TFE3 Rummagene Transcription Factor Associations 2026 1.0 null trichostatin A-4954 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null HDAC2_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Heart septal defect DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.315 ZMIZ1_K562_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Bardet-Biedl syndrome ClinVar Gene-Phenotype Associations 2025 1.0 null MAX_SK-N-SH_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null Acrosomal vesicle COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.198 abnormal pectoral girdle bone morphology MPO Gene-Phenotype Associations 1.0 null GSE226249_2_v_6_pirfenidone_human RummaGEO Drug Perturbation Signatures 1.0 null abnormal neurocranium morphology MPO Gene-Phenotype Associations 1.0 null BRD-K33217094 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.50167 BRD-K04409515 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.11842 CTCF_HCT116_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null hsa-miR-152 TargetScan Predicted Nonconserved microRNA Targets 1.0 0.809003 paraventricular nuclei, right of thalamus, right Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 2.31919 GTEX-WVLH-3126-SM-3MJGA GTEx Tissue Sample Gene Expression Profiles 1.0 0.951991 Stargardt disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.434 H3K4me3_cardiac mesoderm_hg19_4 ENCODE Histone Modification Site Profiles 1.0 null Longissimus lumborum TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 0.931 respiratory insufficiency HPO Gene-Disease Associations 1.0 null CTCF_A549_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null foot polydactyly HPO Gene-Disease Associations 1.0 null Urinary system disease DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.99 BRD-A59683007 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.00601 trichostatin A-6879 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null trichostatin A-7324 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null H3K27ac_fibroblast of lung_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null intracellular organelle part GO Cellular Component Annotations 2015 1.0 null GTEX-REY6-0526-SM-2TF5M GTEx Tissue Sample Gene Expression Profiles 1.0 1.66423 GSE86507,GSE86509_7_v_8_hoxb7_mouse RummaGEO Gene Perturbation Signatures -1.0 null CTCF_GM12868_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null hernia HPO Gene-Disease Associations 1.0 null H3K4me3_foreskin fibroblast_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null VZ in subcallosal region Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.24934 GTEX-T5JC-2526-SM-4DM6G GTEx Tissue Sample Gene Expression Profiles 1.0 1.49782 GSE161846,GSE161849_1_v_5_smarca4_human RummaGEO Gene Perturbation Signatures -1.0 null trichostatin A-4768 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null STING1 LINCS L1000 CMAP CRISPR Knockout Consensus Signatures 1.0 0.00631284 BRD-K58277621 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.03472 BRD-K94294671_A-1065_ASC_24.0_h_10.0_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null intracellular transport GO Biological Process Annotations 2015 1.0 null GTEX-T5JW-1826-SM-3GAE1 GTEx Tissue Sample Gene Expression Profiles -1.0 -0.88482 cell projection part COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 H3K4me2_skeletal muscle myoblast_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K58219783 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.04292 cuneus, right, striate Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles 1.0 0.836492 H3K4me1_brain_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null Hepatic Fibrosis, Congenital DisGeNET Gene-Disease Associations 1.0 null H3K4me1_erythroblast_mm9_3 ENCODE Histone Modification Site Profiles 1.0 null GSE142210_4_v_8_panobinostat_human RummaGEO Drug Perturbation Signatures 1.0 null BRD-K46056750_AZD-7762_HME1_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Axial spondylometaphyseal dysplasia DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.522 AC-30-XU83_1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.230157 CTCF_astrocyte of the cerebellum_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null disease of cellular proliferation DISEASES Text-mining Gene-Disease Association Evidence Scores 1.0 0.039261 SG in frontal polar cortex Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 0.981604 PRKAR2B Pathway Commons Protein-Protein Interactions 1.0 null GTEX-QLQW-1326-SM-2S1QS GTEx Tissue Sample Gene Expression Profiles -1.0 -0.910386 Head and Neck squamous cell carcinoma_HNSC_TCGA-H7-A6C5-11A-11R-A30B-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null BRD-K07160586 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.09451 VZ in caudal midinferior temporal cortex (area TF) Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.66204 DG-75 COSMIC Cell Line Gene Mutation Profiles 1.0 null GSE195559_2_v_7_notch1_human RummaGEO Gene Perturbation Signatures 1.0 null MDST8 COSMIC Cell Line Gene Mutation Profiles 1.0 null hypothalamic amygdala Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.56593 SR Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.298 caffeic acid-5352 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null abnormality of molar morphology HPO Gene-Disease Associations 1.0 null VAX2 JASPAR Predicted Human Transcription Factor Targets 2025 1.0 12.9499 ZNF384 ENCODE Transcription Factor Targets 1.0 null ZBTB33_SK-N-SH_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE147366_1_v_0_med13_human RummaGEO Gene Perturbation Signatures -1.0 null POLR2A_MCF 10A_hg19_2 ENCODE Transcription Factor Binding Site Profiles 1.0 null GTEX-V1D1-2426-SM-3GAER GTEx Tissue Sample Gene Expression Profiles -1.0 -0.897836 hippocampus (hippocampal formation)_37 pcw_M_263195015 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq 1.0 2.24864 GC-04-UF36_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.201886 Radial spoke COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 1.985 Cilium Assembly Reactome Pathways 2024 1.0 null GSE242083,GSE242098_2_v_1_med1_human RummaGEO Gene Perturbation Signatures 1.0 null H3K79me2_A549_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-IR-A3LF-01A-21R-A22U-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null GTEX-T2IS-2026-SM-4DM6W GTEx Tissue Sample Gene Expression Profiles 1.0 0.884493 TSC1_Deficiency_GDS4572_346_mouse_Naive CD4 T cells GEO Signatures of Differentially Expressed Genes for Gene Perturbations 1.0 null UBE2D2 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.34422 rostral ventral respiratory cell group Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.01999 Pelvis TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.233 CTCF_K562_hg19_3 ENCODE Transcription Factor Binding Site Profiles 1.0 null organelle COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.663342 myotome development GO Biological Process Annotations 2015 1.0 null Renal agenesis DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.114 ZEB1 ENCODE Transcription Factor Targets 1.0 null phenelzine-2357 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null BRD-K29163534 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.50593 prostate gland epithelium TISSUES Text-mining Tissue Protein Expression Evidence Scores 1.0 1.08501 FOXA2_A549_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K15768601 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.32355 Anterior cingulate area, dorsal part, layer 5 Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.0319 MDA MB435 BioGPS Cell Line Gene Expression Profiles -1.0 -0.83806 aztreonam-5535 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Outer nuclear layer TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 1.0 1.053 spinal (inferior) vestibular nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles -1.0 -1.44932 Perturb_16106_KO_Bap1_SRP360900 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -20.0 GTEX-OOBJ-0426-SM-3NB1S GTEx Tissue Sample Gene Expression Profiles 1.0 1.28814 BRD-K21196859 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures 1.0 3.2388 GSE180321_0_v_1_imperatorin_human RummaGEO Drug Perturbation Signatures 1.0 null N-acetyl-L-leucine-4622 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null H3K4me3_liver_mm9_1 ENCODE Histone Modification Site Profiles 1.0 null EC-62-OE64_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles 1.0 0.21659 ciliary part COMPARTMENTS Curated Protein Localization Evidence Scores 1.0 0.007381 hip dysplasia HPO Gene-Disease Associations 1.0 null Main olfactory bulb, granule layer Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.4568 Congenital myasthenic syndrome 22 DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 1.0 1.129 CHCHD1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.63411 BRD-K21025364_NVP-TAE226_HA1E_24_h_10_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null VZ in hypothalamic portion Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 2.0126 SKMEL1 CCLE Cell Line Gene CNV Profiles 1.0 2.59946 H3K4me3_WERI-Rb-1_hg19_1 ENCODE Histone Modification Site Profiles 1.0 null BRD-K31342827_GF-109203X_HA1E_24.0_h_12.12_um LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null posterior cortical nucleus Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles 1.0 1.64327 OVCAR433 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.881483 H3K4me3_heart_mm9_2 ENCODE Histone Modification Site Profiles 1.0 null H3K4me3_HL-60_hg19_2 ENCODE Histone Modification Site Profiles 1.0 null Centriolar subdistal appendage COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 0.812 skeletal GeneRIF Biological Term Annotations 1.0 null BRD-K31210612 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.17431 Multiple Myeloma DisGeNET Gene-Disease Associations 1.0 null vinpocetine-1557 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null HT GDSC Cell Line Gene Expression Profiles 1.0 1.50064 PMC10243915-uxad037_suppl_supplementary_table_s1a.pdf-551-HBP1_HBP1 Rummagene Transcription Factor Associations 2026 1.0 null cytoskeleton-dependent intracellular transport GO Biological Process Annotations 2015 1.0 null Cervical squamous cell carcinoma and endocervical adenocarcinoma_CESC_TCGA-PN-A8MA-01A-11R-A36F-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null PMC4989457-13073_2016_339_MOESM3_ESM.xls-MITF_Q1_vs_Q4-hugo_id_MITF Rummagene Transcription Factor Associations 2026 1.0 null autosomal genetic disease DISEASES Curated Gene-Disease Association Evidence Scores 1.0 null GTEX-Q734-0006-SM-2I3FJ GTEx Tissue Sample Gene Expression Profiles -1.0 -1.24929 NCI-H1693 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles -1.0 -1.80359 abnormality of dentin HPO Gene-Disease Associations 1.0 null CTCF_fibroblast of upper leg skin_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null NB-80-IM48_10uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.29389 membrane-bounded organelle LOCATE Predicted Protein Localization Annotations 1.0 null superficial stratum of VPrP Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles 1.0 1.0209 ritodrine-2635 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null rib bifurcation MPO Gene-Phenotype Associations 1.0 null PMC7498599-41467_2020_18508_MOESM11_ESM.xlsx-8cell_ZSCAN4-Unnamed_1_ZSCAN4 Rummagene Transcription Factor Associations 2026 1.0 null CRCGN017_MCF10A.TP53.M_24H:K20 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.61239 mediodorsal nucleus of thalamus_21 pcw_F_12365 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray 1.0 1.40863 sulindac-168 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null GTEX-RN64-0326-SM-2TC5J GTEx Tissue Sample Gene Expression Profiles -1.0 -1.00963 primary somatosensory cortex (area S1, areas 3,1,2)_4 yrs_M_12298 Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray -1.0 -0.947184 trichostatin A-1659 CMAP Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Perturb_1788_KO_Irf8_SRP265303 PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations -1.0 -20.0 NB17 COSMIC Cell Line Gene Mutation Profiles 1.0 null PMC3012117-pone.0015793.s008.xls-Sheet1-Table_S3_The_list_of_TFE3_regulated_genes_with_MiTF_TFE_binding_sequence_in_their_promoters_TFE3 Rummagene Transcription Factor Associations 2026 1.0 null Cell projection COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 1.0 2.49 H2AFZ_fibroblast of lung_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null cinchophen LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.67092 SOX12 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas 1.0 2.65173 Pheochromocytoma and Paraganglioma_PCPG_TCGA-QT-A7U0-01A-11R-A35K-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null ELF1_MCF-7_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null GSE89767_7_v_5_cebpa_mouse RummaGEO Gene Perturbation Signatures 1.0 null RFX5_HepG2_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null RH30 CCLE Cell Line Gene CNV Profiles 1.0 2.06559 STAT3_MCF 10A_hg19_1 ENCODE Transcription Factor Binding Site Profiles 1.0 null BRD-K44042747 LINCS L1000 CMAP Chemical Perturbation Consensus Signatures -1.0 -3.93083 abnormal digestive system morphology MPO Gene-Phenotype Associations 1.0 null abnormal upper lip morphology MPO Gene-Phenotype Associations 1.0 null GSE224294_3_v_2_ngly1_human RummaGEO Gene Perturbation Signatures -1.0 null 2,6-dimethylpiperidine-4363 CMAP Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Hmga1 JASPAR Predicted Mouse Transcription Factor Targets 2025 1.0 30.4248 CRCGN008_HEPG2_24H:K07 Carcinogenome Chemical Perturbation Carcinogenicity Signatures 1.0 2.41895 BA-84-WN26_0.1uM NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles -1.0 -0.223647 GTEX-X4XX-0005-SM-3NMCS GTEx Tissue Sample Gene Expression Profiles -1.0 -1.40555 r7 part of rostral ventromedial reticular area Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles -1.0 -1.42948 Skin Cutaneous Melanoma_SKCM_TCGA-FS-A4F0-06A-11R-A24X-07 TCGA Signatures of Differentially Expressed Genes for Tumors 1.0 null CTNNBL1 CM4AI KOLF21J CRISPRi Gene Perturbation Atlas -1.0 -2.27151