| Name |
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CCLE Cell Line Gene Mutation Profiles DatasetFrom Cancer Cell Line Encyclopedia Gene-level mutation profiles for cancer cell lines |
COSMIC Cell Line Gene Mutation Profiles DatasetFrom Catalogue of Somatic Mutations In Cancer Gene mutations in cancer cell lines from low-throughput or high-throughput studies |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles DatasetFrom Klijn et al., Nat. Biotechnol., 2015 SNP gene mutations in cancer cell lines identified by microarray |
CFTR Genecystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017] |
TW GeneTwirler mouse mutation, human homolog of |
ABCC1 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012] |
ABCC8 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 8 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020] |
ABCC9 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 9 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] |
ABCC4 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 4 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] |
ABCC5 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 5 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
ABCC6 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 6 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008] |
ABCC2 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 2 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008] |
ABCC3 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] |
ABCC12 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 12 This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008] |
ABCC13 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene This gene is a member of the superfamily of genes encoding ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This family member is part of the MRP subfamily, which is involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding a functional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] |
ABCC10 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 10 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010] |
ABCC11 GeneATP-binding cassette, sub-family C (CFTR/MRP), member 11 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] |
LOC111674475 GeneCFTR intron 11 enhancer This region represents a DNase I hypersensitive site, DHS11, that corresponds to an intronic intestinal enhancer of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This enhancer can cooperate with other regulatory elements at the CFTR locus, including the DHS1, DHS10a,b and DHS+15.6kb elements, and it physically interacts with the CFTR promoter and other regulatory elements in a larger topologically associating domain (TAD). Activity of this enhancer is positively regulated by binding of HNF1 homeobox, caudal-type homeobox, and forkhead box transcription factors. Functionally significant polymorphisms have been identified within this enhancer. [provided by RefSeq, Nov 2018] |
cftr mutation spectrum Gene SetFrom 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. |
Congenital bilateral aplasia of vas deferens from CFTR mutation Gene SetFrom 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. |
cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene SetFrom 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. |
C-CFTR-NHERF(PDZ1 domain)-ezrin complex Gene Setproteins in the C-CFTR-NHERF(PDZ1 domain)-ezrin complex protein complex from the CORUM Protein Complexes dataset. |
(C-CFTR)2-NHERF-ezrin complex Gene Setproteins in the (C-CFTR)2-NHERF-ezrin complex protein complex from the CORUM Protein Complexes dataset. |
C-CFTR-NHERF(PDZ2 domain)-ezrin complex Gene Setproteins in the C-CFTR-NHERF(PDZ2 domain)-ezrin complex protein complex from the CORUM Protein Complexes dataset. |
CFTR-NHERF-beta(2)AR signaling complex Gene Setproteins in the CFTR-NHERF-beta(2)AR signaling complex protein complex from the CORUM Protein Complexes dataset. |
cftr Gene SetFrom 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. |
golgi to plasma membrane cftr protein transport Gene SetFrom 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. |
regulation of golgi to plasma membrane cftr protein transport Gene SetFrom 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. |
negative regulation of golgi to plasma membrane cftr protein transport Gene SetFrom 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. |
cytoplasmic sequestering of cftr protein Gene SetFrom 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. |
CFTRinh-172 Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the CFTRinh-172 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
CFTR regulator domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the CFTR regulator domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
CFTR Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for CFTR from the Pathway Commons Protein-Protein Interactions dataset. |
CFTR Gene SetFrom 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. |
Human - Motor Cortex - Cluster - FEZF2+ CFTR+ Layer 5-6 glutamatergic neuron Gene SetFrom 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. |
Defective CFTR causes cystic fibrosis Gene Setproteins participating in the Defective CFTR causes cystic fibrosis pathway from the Reactome Pathways 2024 dataset. |
RHO GTPases regulate CFTR trafficking Gene Setproteins participating in the RHO GTPases regulate CFTR trafficking pathway from the Reactome Pathways 2024 dataset. |
Brain_CT2_Exc L5-6 FEZF2 CFTR Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Brain_CT2_Exc L5-6 FEZF2 CFTR cell type from the HuBMAP ASCT+B dataset. |
Brain_CT2_Exc L5-6 FEZF2 CFTR Gene SetFrom 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. |
g130v mutation Gene SetFrom 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. |
high frequency of factor v leiden mutation. Gene SetFrom 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. |
cys39arg mutation Gene SetFrom 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. |
apolipoprotein e mutation [apolipoprotein e (delta149 leu)] Gene SetFrom 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. |
germline brca1 mutation Gene SetFrom 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. |
heteroallelic ceruloplasmin gene mutation Gene SetFrom 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. |
LHX1_NULL MUTATION - Ablation_GDS1748_748_mouse_Embryonic kidneys (from day E14.5) Gene SetFrom 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. |
LHX1_NULL MUTATION - Ablation_GDS1748_749_mouse_Embryonic kidneys (from day E18.5) Gene SetFrom 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. |
somatic diversification of immune receptors via somatic mutation Gene SetFrom 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. |
Ovarian cancer in BRCA1 mutation carriers Gene SetFrom 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. |
Breast Cancer in BRCA1 mutation carriers Gene SetFrom 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. |
Breast cancer in BRCA2 mutation carriers Gene SetFrom 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. |
somatic mutation Gene SetFrom 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. |
autosomal dominant somatic cell mutation Gene SetFrom 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. |
mutation-missense Gene SetFrom 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. |
Ldlr Mutation Gene SetFrom 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. |
Factor V Leiden Mutation Gene SetFrom 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. |
Low Density Lipoprotein Receptor Mutation Gene SetFrom 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. |
Prothrombin G20210A Mutation Gene SetFrom 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. |
Mitochondrial Dna Mutation Gene SetFrom 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. |
Desmoid Tumor Caused By Somatic Mutation Gene SetFrom 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. |
Methylenetetrahydrofolate Reductase Gene Mutation Gene SetFrom 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. |
Male Infertility With Teratozoospermia Due To Single Gene Mutation Gene SetFrom 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. |
Polg Mutation Gene SetFrom 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. |
Diffuse Midline Glioma, Point Mutation K27M In Histone H3 Gene SetFrom 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. |
Heterozygous Factor V Leiden Mutation Gene SetFrom 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. |
Homozygous Factor V Leiden Mutation Gene SetFrom 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. |
Factor Ii Mutation Gene SetFrom 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. |
Heterozygous Prothrombin G20210A Mutation Gene SetFrom 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. |
Mutation-Negative Lynch Syndrome Gene SetFrom 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. |
Low Density Lipoprotein Receptor Adaptor Protein 1 Mutation Gene SetFrom 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. |
Biallelic Rpe65 Mutation Associated Retinal Dystrophy Gene SetFrom 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. |
Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene SetFrom 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. |
Somatic Mutation Gene SetFrom 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. |
Prothrombin Gene Mutation Gene SetFrom 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. |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene SetFrom 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. |
Caused By Mutation In The Tbc1 Domain Family, Member 24 Gene (Tbc1D24, 613577.0004) Gene SetFrom 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. |
Caused By Mutation In The Transportin 3 Gene (Tnpo3, 610032.0001) Gene SetFrom 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. |
Caused By Mutation In The Zinc Finger- And Btb Domain-Containing Protein-42 (Zbtb42, 613915.0001) Gene SetFrom 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. |
Effects of MFN2 mutation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Effects of MFN2 mutation pathway from the WikiPathways Pathways 2024 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom 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. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom 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. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom 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. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom 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. |
Acute myeloid leukemia with biallelic mutation of CEBPA Gene SetFrom 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. |
Lissencephaly due to TUBA1A mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to TUBA1A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Alagille syndrome due to a JAG1 point mutation Gene SetFrom 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. |
Lissencephaly due to LIS1 mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to LIS1 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lissencephaly due to doublecortin gene mutation Gene SetFrom 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. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom 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. |
Primary familial polycythemia due to EPO receptor mutation Gene SetFrom 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. |
Desmoid tumor caused by somatic mutation Gene SetFrom 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. |
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Gene SetFrom 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. |
Caused by mutation in the TBC1 domain family Gene SetFrom 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. |
Glycogen storage disease due to SLC37A4 mutation Gene SetFrom 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. |
Alagille syndrome due to a NOTCH2 point mutation Gene SetFrom 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. |
Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 Gene SetFrom 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. |
Neurofibromatosis due to NF1 mutation or intragenic deletion Gene SetFrom 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. |
DeSanto-Shinawi syndrome due to WAC point mutation Gene SetFrom 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. |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene SetFrom 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. |
Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene SetFrom 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. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom 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. |
Caused by mutation in the tafazzin gene Gene SetFrom 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. |
SIN3A-related intellectual disability syndrome due to a point mutation Gene SetFrom 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. |
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Gene SetFrom 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. |
POLE Exonuclease Domain Mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the POLE Exonuclease Domain Mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Kleefstra syndrome due to a point mutation Gene SetFrom 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. |
Hao-Fountain syndrome due to USP7 mutation Gene SetFrom 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. |
Adult diffuse glioma (IDH mutation) Gene SetFrom 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. |
Adult diffuse glioma (IDH mutation, 1p/19q non-codeleted) Gene SetFrom 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. |
Adult diffuse glioma (TERT mutation only) Gene SetFrom 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. |
EGFR mutation-positive lung adenocarcinoma Gene SetFrom 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. |
Frontotemporal dementia with GRN mutation (age at onset) Gene SetFrom 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. |
Frontotemporal dementia with GRN mutation Gene SetFrom 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. |
Parkinson's disease in GBA mutation carriers Gene SetFrom 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. |
Breast cancer in BRCA2 mutation carriers Gene SetFrom 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. |
Hereditary hemochromatosis-related traits (HFE mutation homozygotes) Gene SetFrom 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. |
BRCA1 mutation in breast cancer Gene SetFrom 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. |
Amyotrophic lateral sclerosis (C9orf72 mutation interaction) Gene SetFrom 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. |
Amyotrophic lateral sclerosis in C9orf72 mutation negative individuals Gene SetFrom 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. |
Amyotrophic lateral sclerosis in C9orf72 mutation positive individuals Gene SetFrom 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. |
Breast Cancer in BRCA1 mutation carriers Gene SetFrom 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. |
PMC7305081-10120_2020_1045_MOESM1_ESM.xlsx-Tab2-Mutation-MAF_MAF Gene SetFrom 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. |
Otopalatodigital spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otopalatodigital spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NOG-Related-Symphalangism Spectrum Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NOG-Related-Symphalangism Spectrum Disorder from the curated CTD Gene-Disease Associations dataset. |
Fetal Alcohol Spectrum Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fetal Alcohol Spectrum Disorders from the curated CTD Gene-Disease Associations dataset. |
autism spectrum disorder Gene SetFrom 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. |
autism spectrum disorder Gene SetFrom 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. |
fetal alcohol spectrum disorder Gene SetFrom 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. |
gjb2 mutations--phenotypic spectrum and frequencies of gjb2 mutations Gene SetFrom 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. |
autism spectrum disorder Gene SetFrom 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. |
autistic spectrum disorder Gene SetFrom 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. |
spectrum Gene SetFrom 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. |
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) Gene SetFrom 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. |
autism spectrum disorder Gene SetFrom 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. |
ASD autism spectrum Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease ASD autism spectrum from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Zellweger Spectrum Disorder Gene SetFrom 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. |
Zellweger Spectrum Gene SetFrom 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. |
Adnp-Related Multiple Congenital Anomalies, Intellectual Disability, Autism Spectrum Disorder Gene SetFrom 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. |
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum Gene SetFrom 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. |
Auditory Neuropathy Spectrum Disorder Gene SetFrom 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. |
Pik3Ca Related Overgrowth Spectrum Gene SetFrom 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. |
Otopalatodigital Spectrum Disorder Gene SetFrom 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. |
Synaptic signaling associated with autism spectrum disorder Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Synaptic signaling associated with autism spectrum disorder pathway from the WikiPathways Pathways 2024 dataset. |
Autism spectrum disorder Gene SetFrom 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. |
Otopalatodigital syndrome spectrum disorder Gene SetFrom 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. |
Autism spectrum disorder Gene SetFrom 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. |
Fetal alcohol spectrum disorder Gene SetFrom 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. |
Autism spectrum disorder Gene SetFrom 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. |
Otopalatodigital syndrome spectrum disorder Gene SetFrom 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. |
Autism spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autism spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
WFS1-Related Spectrum Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the WFS1-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TP63-Related Spectrum Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TP63-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Zellweger spectrum disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Zellweger spectrum disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
POLG-Related Spectrum Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the POLG-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PIK3CA-Related Overgrowth Spectrum Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PIK3CA-Related Overgrowth Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multicentric osteolysis nodulosis arthropathy spectrum Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multicentric osteolysis nodulosis arthropathy spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
FLNB-Related Spectrum Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the FLNB-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
WFS1-spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the WFS1-spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial Autism Spectrum Disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial Autism Spectrum Disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Auditory neuropathy spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Auditory neuropathy spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autism spectrum disorder - epilepsy - arthrogryposis syndrome Gene SetFrom 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. |
MAPT-Related Spectrum Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MAPT-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autism spectrum disorder due to AUTS2 deficiency Gene SetFrom 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. |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Gene SetFrom 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. |
Cockayne spectrum Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cockayne spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood myocerebrohepatopathy spectrum Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood myocerebrohepatopathy spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
GNAO1-related developmental delay-seizures-movement disorder spectrum Gene SetFrom 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. |
Oromandibular-limb hypogenesis spectrum Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Oromandibular-limb hypogenesis spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Branchiootorenal Spectrum Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Branchiootorenal Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia Neuropathy Spectrum Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia Neuropathy Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
KAT6B-Related Spectrum Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the KAT6B-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
KIF7-related ciliopathy spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the KIF7-related ciliopathy spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ITPR1-associated cerebellar ataxia spectrum disorder Gene SetFrom 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. |
RECQL4-related spectrum disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the RECQL4-related spectrum disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
POLG2-related spectrum disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the POLG2-related spectrum disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
NRXN2-related Austism Spectrum Disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the NRXN2-related Austism Spectrum Disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Holoprosencephaly spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Holoprosencephaly spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
NRXN2-related autism spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the NRXN2-related autism spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autism spectrum disorder Gene SetFrom 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. |
Autism spectrum disorders (social interaction) Gene SetFrom 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. |
Autism spectrum disorder or schizophrenia Gene SetFrom 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. |
Autism spectrum disorder-related traits Gene SetFrom 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. |
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) Gene SetFrom 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. |
Restricted and repetitive behaviours in autism spectrum disorder Gene SetFrom 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. |
Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) Gene SetFrom 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. |
Obsessive-compulsive disorder or autism spectrum disorder Gene SetFrom 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. |
PMC10269832-spectrum.04292-22-s0001.pdf-6-XBP1_XBP1 Gene SetFrom 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. |
PMC11237666-spectrum.03516-23-s0004.xlsx-Early_Resp_FOXJ1_high_Ciliated-Unnamed_6_FOXJ1 Gene SetFrom 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. |
PMC11237666-spectrum.03516-23-s0004.xlsx-FOXJ1_high_Ciliated_Cells-Unnamed_6_FOXJ1 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-6-FOXN4_FOXN4 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-6-ZIC1_ZIC1 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-7-SOX5_SOX5 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-13-NPAS3_NPAS3 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-13-ZNF595_ZNF595 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-13-ZNF331_ZNF331 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-15-NFE2L2_NFE2L2 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-34-TAL1_TAL1 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-44-KLF4_KLF4 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-48-ZNF226_ZNF226 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-49-ZNF540_ZNF540 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-50-ZNF77_ZNF77 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-55-HOXA5_HOXA5 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-56-IRF7_IRF7 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-57-CIC_CIC Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-57-USF2_USF2 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-59-ZNF101_ZNF101 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-69-NFIC_NFIC Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-69-SNAPC4_SNAPC4 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-76-CENPB_CENPB Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-79-MAZ_MAZ Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-80-ZNF28_ZNF28 Gene SetFrom 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. |
PMC12211054-spectrum.00100-25-s0002.pdf-81-ZNF678_ZNF678 Gene SetFrom 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. |