Harmonizome 3.0

From GAD Gene-Disease Associations

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

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital bilateral aplasia of vas deferens from CFTR mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From Biocarta Pathways

proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset.

From CORUM Protein Complexes

proteins in the C-CFTR-NHERF(PDZ1 domain)-ezrin complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the (C-CFTR)2-NHERF-ezrin complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the C-CFTR-NHERF(PDZ2 domain)-ezrin complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the CFTR-NHERF-beta(2)AR signaling complex protein complex from the CORUM Protein Complexes dataset.

From GeneRIF Biological Term Annotations

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

From GO Biological Process Annotations 2015

genes participating in the golgi to plasma membrane cftr protein transport biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the regulation of golgi to plasma membrane cftr protein transport biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the negative regulation of golgi to plasma membrane cftr protein transport biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the cytoplasmic sequestering of cftr protein biological process from the curated GO Biological Process Annotations 2015 dataset.

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the CFTR_inh-172 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CFTR regulator domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for CFTR from the Pathway Commons Protein-Protein Interactions dataset.

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the CFTR gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Motor Cortex - Cluster - FEZF2+ CFTR+ Layer 5-6 glutamatergic neuron cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From Reactome Pathways 2024

proteins participating in the Defective CFTR causes cystic fibrosis pathway from the Reactome Pathways 2024 dataset.

From Reactome Pathways 2024

proteins participating in the RHO GTPases regulate CFTR trafficking pathway from the Reactome Pathways 2024 dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Brain_CT2_Exc L5-6 FEZF2 CFTR cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Brain_CT2_Exc L5-6 FEZF2 CFTR cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

From GAD Gene-Disease Associations

genes associated with the disease g130v mutation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease high frequency of factor v leiden mutation. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cys39arg mutation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease apolipoprotein e mutation [apolipoprotein e (delta149 leu)] in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease germline brca1 mutation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease heteroallelic ceruloplasmin gene mutation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the LHX1_NULL MUTATION - Ablation_GDS1748_748_mouse_Embryonic kidneys (from day E14.5) 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 LHX1_NULL MUTATION - Ablation_GDS1748_749_mouse_Embryonic kidneys (from day E18.5) gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

From GO Biological Process Annotations 2015

genes participating in the somatic diversification of immune receptors via somatic mutation biological process from the curated GO Biological Process Annotations 2015 dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Ovarian cancer in BRCA1 mutation carriers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Breast Cancer in BRCA1 mutation carriers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Breast cancer in BRCA2 mutation carriers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From HPO Gene-Disease Associations

genes associated with the somatic mutation 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 autosomal dominant somatic cell mutation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term mutation-missense in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Factor V Leiden Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Low Density Lipoprotein Receptor Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Prothrombin G20210A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoid Tumor Caused By Somatic Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Male Infertility With Teratozoospermia Due To Single Gene Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Diffuse Midline Glioma, Point Mutation K27M In Histone H3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Heterozygous Factor V Leiden Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Homozygous Factor V Leiden Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Heterozygous Prothrombin G20210A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Mutation-Negative Lynch 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 Low Density Lipoprotein Receptor Adaptor Protein 1 Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Biallelic Rpe65 Mutation Associated Retinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

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

From DisGeNET Gene-Phenotype Associations

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

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Caused By Mutation In The Tbc1 Domain Family, Member 24 Gene (Tbc1D24, 613577.0004) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Caused By Mutation In The Transportin 3 Gene (Tnpo3, 610032.0001) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Caused By Mutation In The Zinc Finger- And Btb Domain-Containing Protein-42 (Zbtb42, 613915.0001) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From WikiPathways Pathways 2024

proteins participating in the Effects of MFN2 mutation pathway from the WikiPathways Pathways 2024 dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital muscular dystrophy due to LMNA mutation 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 Congenital muscular dystrophy due to LMNA mutation 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 Severe congenital encephalopathy due to MECP2 mutation 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 Acute myeloid leukemia with biallelic mutation of CEBPA 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 Lissencephaly due to TUBA1A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Alagille syndrome due to a JAG1 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to LIS1 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to doublecortin gene mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary familial polycythemia due to EPO receptor mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Desmoid tumor caused by somatic mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Caused by mutation in the TBC1 domain family phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to SLC37A4 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Alagille syndrome due to a NOTCH2 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neurofibromatosis due to NF1 mutation or intragenic deletion phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the DeSanto-Shinawi syndrome due to WAC point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Beckwith-Wiedemann syndrome due to CDKN1C mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Caused by mutation in the tafazzin gene phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SIN3A-related intellectual disability syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the POLE Exonuclease Domain Mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Kleefstra syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hao-Fountain syndrome due to USP7 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Adult diffuse glioma (IDH mutation) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Adult diffuse glioma (IDH mutation, 1p/19q non-codeleted) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Adult diffuse glioma (TERT mutation only) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the EGFR mutation-positive lung adenocarcinoma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Frontotemporal dementia with GRN mutation (age at onset) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Frontotemporal dementia with GRN mutation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Parkinson's disease in GBA mutation carriers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Breast cancer in BRCA2 mutation carriers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hereditary hemochromatosis-related traits (HFE mutation homozygotes) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the BRCA1 mutation in breast cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Amyotrophic lateral sclerosis (C9orf72 mutation interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Amyotrophic lateral sclerosis in C9orf72 mutation negative individuals phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Amyotrophic lateral sclerosis in C9orf72 mutation positive individuals phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Breast Cancer in BRCA1 mutation carriers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC7305081-10120_2020_1045_MOESM1_ESM.xlsx-Tab2-Mutation-MAF_MAF transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Otopalatodigital spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease NOG-Related-Symphalangism Spectrum Disorder from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fetal Alcohol Spectrum Disorders from the curated CTD Gene-Disease Associations dataset.

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease autism spectrum disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease fetal alcohol spectrum disorder 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 gjb2 mutations--phenotypic spectrum and frequencies of gjb2 mutations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease autistic spectrum disorder 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 spectrum in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From GWASdb SNP-Disease Associations

genes associated with the disease autism spectrum disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease ASD autism spectrum from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Adnp-Related Multiple Congenital Anomalies, Intellectual Disability, Autism Spectrum Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Auditory Neuropathy Spectrum Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Pik3Ca Related Overgrowth Spectrum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

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

From WikiPathways Pathways 2024

proteins participating in the Synaptic signaling associated with autism spectrum disorder pathway from the WikiPathways Pathways 2024 dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Autism spectrum disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Autism spectrum disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

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

genes co-occuring with the disease Fetal alcohol spectrum disorder 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 Autism spectrum disorder 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 Otopalatodigital syndrome spectrum disorder 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 Autism spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the WFS1-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the TP63-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Zellweger spectrum disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the POLG-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PIK3CA-Related Overgrowth Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Multicentric osteolysis nodulosis arthropathy spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the FLNB-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the WFS1-spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial Autism Spectrum Disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Auditory neuropathy spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autism spectrum disorder - epilepsy - arthrogryposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the MAPT-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cockayne spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Childhood myocerebrohepatopathy spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the GNAO1-related developmental delay-seizures-movement disorder spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Oromandibular-limb hypogenesis spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Branchiootorenal Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ataxia Neuropathy Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the KAT6B-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the KIF7-related ciliopathy spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the ITPR1-associated cerebellar ataxia spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the RECQL4-related spectrum disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the POLG2-related spectrum disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the NRXN2-related Austism Spectrum Disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Holoprosencephaly spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the NRXN2-related autism spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Autism spectrum disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Autism spectrum disorders (social interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Autism spectrum disorder or schizophrenia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Autism spectrum disorder-related traits phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Restricted and repetitive behaviours in autism spectrum disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Obsessive-compulsive disorder or autism spectrum disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC10269832-spectrum.04292-22-s0001.pdf-6-XBP1_XBP1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC11237666-spectrum.03516-23-s0004.xlsx-Early_Resp_FOXJ1_high_Ciliated-Unnamed_6_FOXJ1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC11237666-spectrum.03516-23-s0004.xlsx-FOXJ1_high_Ciliated_Cells-Unnamed_6_FOXJ1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-6-FOXN4_FOXN4 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-6-ZIC1_ZIC1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-7-SOX5_SOX5 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-13-NPAS3_NPAS3 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-13-ZNF595_ZNF595 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-13-ZNF331_ZNF331 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-15-NFE2L2_NFE2L2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-34-TAL1_TAL1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-44-KLF4_KLF4 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-48-ZNF226_ZNF226 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-49-ZNF540_ZNF540 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-50-ZNF77_ZNF77 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-55-HOXA5_HOXA5 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-56-IRF7_IRF7 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-57-CIC_CIC transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-57-USF2_USF2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-59-ZNF101_ZNF101 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-69-NFIC_NFIC transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-69-SNAPC4_SNAPC4 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-76-CENPB_CENPB transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-79-MAZ_MAZ transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-80-ZNF28_ZNF28 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC12211054-spectrum.00100-25-s0002.pdf-81-ZNF678_ZNF678 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.