Harmonizome 3.0

From HPO Gene-Disease Associations

genes associated with the down-sloping shoulders phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Down-Sloping Shoulders in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term shoulders in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From HPO Gene-Disease Associations

genes associated with the stiff shoulders phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormal facility in opposing the shoulders phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Internally Rotated Shoulders in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormal Facility In Opposing The Shoulders in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From Biocarta Pathways

proteins participating in the phosphorylation of mek1 by cdk5/p35 down regulates the map kinase pathway pathway from the Biocarta Pathways dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Transient Myeloproliferative Disorder of Down Syndrome from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukemia, Megakaryoblastic, of Down Syndrome from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Down Syndrome from the curated CTD Gene-Disease Associations dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease down syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; hirschsprung disease; nondisjunction, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; down syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; nondisjunction, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; trisomy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; leukemia, myeloid; myeloid leukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; hepatitis b; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; leukemia, myeloid, acute in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease dementia; down syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; down syndrome; olfaction disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital; hypertension, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alzheimer's disease; down syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; fetal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; down syndrome; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease celiac disease; down syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term down in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Down Syndrome_CNS - Brain - Cerebellum (MMHCC)_GSE1611 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Down Syndrome_Brain_GSE5390 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Down Syndrome_Fetus_GSE10758 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the NET1_KD_GDS4196_436_human_AGS - gastric adenocarcinoma cells - (63 shRNA Knock-Down) gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the NET1_KD_GDS4196_437_human_AGS - gastric adenocarcinoma cells - (65 shRNA Knock-Down) gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

From GO Biological Process Annotations 2015

genes participating in the energy coupled proton transport, down electrochemical gradient biological process from the curated GO Biological Process Annotations 2015 dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Down Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Down-regulated-in-metastasis protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair-down neuron morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the absent hair-down neurons phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the leukemia, megakaryoblastic, with or without down syndrome, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the down syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the leukemia, transient, of down syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

From Reactome Pathways 2014

proteins participating in the Nef Mediated CD8 Down-regulation pathway from the Reactome Pathways dataset.

From Reactome Pathways 2014

proteins participating in the Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters pathway from the Reactome Pathways dataset.

From Reactome Pathways 2014

proteins participating in the Nef Mediated CD4 Down-regulation pathway from the Reactome Pathways dataset.

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease Down syndrome from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Down Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Down Syndrome Critical Region in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Myeloid Leukemia Associated With Down Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Myeloproliferative Disorder Of Down Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Myeloid Proliferations Associated With Down Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent hair-down neurons phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the down-turned corners of mouth phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From Reactome Pathways 2024

proteins participating in the FBXL7 down-regulates AURKA during mitotic entry and in early mitosis pathway from the Reactome Pathways 2024 dataset.

From Reactome Pathways 2024

proteins participating in the Nef Mediated CD4 Down-regulation pathway from the Reactome Pathways 2024 dataset.

From Reactome Pathways 2024

proteins participating in the Nef Mediated CD8 Down-regulation pathway from the Reactome Pathways 2024 dataset.

From Reactome Pathways 2024

proteins participating in the Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters pathway from the Reactome Pathways 2024 dataset.

From Reactome Pathways 2024

proteins participating in the PTK6 Down-Regulation pathway from the Reactome Pathways 2024 dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Down syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Down syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Myeloid leukemia associated with Down Syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Down syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute megakaryoblastic leukemia in down syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDR phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC9633745-mmc3.xlsx-Table_S2-Down-regulated_in_MSC-2_MSC transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC9974104-jci-133-159940-s017.xlsx-GT3-INCP-GATA3_Co-down-Gene_ID_GATA3 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC9974104-jci-133-159940-s017.xlsx-GT3-INCP-GATA3_Co-down-Symbol_GATA3 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC9530161-41419_2022_5296_MOESM2_ESM.xlsx-Tab9_KDM5C-KD-down-DKD-rescued-Table_9_Down-regluted_genes_in_KDM5C-KD_and_rescued_genes_in_DKD_AR transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC8755441-mmc3.xlsx-IRF1-Down-Symbol_IRF1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC8755441-mmc3.xlsx-IRF7-down-Symbol_IRF7 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC8040704-jcav12p2673s2.xlsx-Down-regulated_genes_in_EBF1-Unnamed_0_EBF1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC8040704-jcav12p2673s2.xlsx-Down-regulated_genes_in_EBF1-Unnamed_5_EBF1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC6344081-elife-40364-supp8.xlsx-PLZF-Si-diff-expressed-gen-Down-Symbol_ZBTB16 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC4653014-oncotarget-06-20404-s004.xls-Down-regulated_in_AFAP1-AS1_KD-Unnamed_1_AR transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC3029394-pone.0016617.s001.xls-Down-regulated-Table_S1_Genes_down-regulated_by_SOX2_over-expression_0_5-fold_SOX2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC5798892-41421_2017_3_MOESM8_ESM.xlsx-down-regulated-Supplementary_Table_S3_Up-_and_downregulated_genes_in_ATF6-_-_hMSCs_compared_to_ATF6_hMSCs_late_passage_ATF6 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC5259899-13287_2016_455_MOESM2_ESM.xlsx-Down-regulated-Supplementary_Table_S2_Down-reguated_genes_expression_in_MESP1_negative_cells_MESP1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC4909989-ncomms11840-s2.xlsx-down-regulate-TEAD4-FL_YAP_TEAD4 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC4909989-ncomms11840-s2.xlsx-down-regulate-TEAD4-S_YAP_TEAD4 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC11799530-12276_2024_1380_MOESM1_ESM.xlsx-COMMON_KD-UP_and_OE-DOWN-86_common_elements_in_kd-up_and_oe-down_AR transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12621392-12864_2025_12212_MOESM2_ESM.xlsx-GSF-F_48h_2-down-regulated_PDX1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12621392-12864_2025_12212_MOESM2_ESM.xlsx-GSF-F_72h_2-down-regulated_PDX1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12621392-12864_2025_12212_MOESM2_ESM.xlsx-GSF-S_48h_2-down-regulated_PDX1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12621392-12864_2025_12212_MOESM2_ESM.xlsx-GSF-S_72h_2-down-regulated_PDX1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.