selective t-cell defect

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Results for "selective t-cell defect": 4 genes, 434 gene sets

Name
NALCN Gene sodium leak channel, non selective This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]
SMUG1 Gene single-strand-selective* monofunctional uracil-DNA glycosylase 1* This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]
STHAG5 Gene tooth agenesis, selective, 5
SMUG1P1 Gene single-strand-selective* monofunctional uracil-DNA glycosylase 1 pseudogene 1*
selective t-cell defect Gene Set From OMIM Gene-Disease Associations genes associated with the selective t-cell defect phenotype from the curated OMIM Gene-Disease Associations dataset.
rho-selective guanine exchange factor akap13 mediates stress fiber formation Gene Set From Biocarta Pathways proteins participating in the rho-selective guanine exchange factor akap13 mediates stress fiber formation pathway from the Biocarta Pathways dataset.
Congenital sensory neuropathy with selective loss of small myelinated fibers Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital sensory neuropathy with selective loss of small myelinated fibers phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tooth agenesis, selective, 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tooth agenesis, selective, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tooth agenesis, selective, X-linked, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tooth agenesis, selective, X-linked, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tooth agenesis, selective, 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tooth agenesis, selective, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tooth agenesis, selective, 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tooth agenesis, selective, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thyroid hormone resistance, selective pituitary Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thyroid hormone resistance, selective pituitary phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
n-methyl-d-aspartate selective glutamate receptor complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the n-methyl-d-aspartate selective glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
kainate selective glutamate receptor complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the kainate selective glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
n-methyl-d-aspartate selective glutamate receptor complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the n-methyl-d-aspartate selective glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
Selective Estrogen Receptor Modulators Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Selective Estrogen Receptor Modulators from the curated CTD Gene-Chemical Interactions dataset.
Tooth Agenesis, Selective, X-Linked, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tooth Agenesis, Selective, X-Linked, 1 from the curated CTD Gene-Disease Associations dataset.
Tooth Agenesis, Selective, 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tooth Agenesis, Selective, 5 from the curated CTD Gene-Disease Associations dataset.
Tooth Agenesis, Selective, 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tooth Agenesis, Selective, 6 from the curated CTD Gene-Disease Associations dataset.
Tooth Agenesis, Selective, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tooth Agenesis, Selective, 3 from the curated CTD Gene-Disease Associations dataset.
Tooth Agenesis, Selective, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tooth Agenesis, Selective, 2 from the curated CTD Gene-Disease Associations dataset.
Thyroid Hormone Resistance, Selective Pituitary Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Thyroid Hormone Resistance, Selective Pituitary from the curated CTD Gene-Disease Associations dataset.
selective igg deficiency disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease selective igg deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
selective iga deficiency disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease selective iga deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
selective immunoglobulin deficiency disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease selective immunoglobulin deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
selective Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term selective in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of n-methyl-d-aspartate selective glutamate receptor activity Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of n-methyl-d-aspartate selective glutamate receptor activity biological process from the curated GO Biological Process Annotations 2015 dataset.
alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering Gene Set From GO Biological Process Annotations 2015 genes participating in the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of kainate selective glutamate receptor activity Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of kainate selective glutamate receptor activity biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity biological process from the curated GO Biological Process Annotations 2015 dataset.
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene Set From GO Cellular Component Annotations 2015 proteins localized to the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
n-methyl-d-aspartate selective glutamate receptor complex Gene Set From GO Cellular Component Annotations 2015 proteins localized to the n-methyl-d-aspartate selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
kainate selective glutamate receptor complex Gene Set From GO Cellular Component Annotations 2015 proteins localized to the kainate selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
kainate selective glutamate receptor activity Gene Set From GO Molecular Function Annotations 2015 genes performing the kainate selective glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Gene Set From GO Molecular Function Annotations 2015 genes performing the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
acetylcholine-activated cation-selective channel activity Gene Set From GO Molecular Function Annotations 2015 genes performing the acetylcholine-activated cation-selective channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
single-strand selective uracil dna n-glycosylase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the single-strand selective uracil dna n-glycosylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
n-methyl-d-aspartate selective glutamate receptor activity Gene Set From GO Molecular Function Annotations 2015 genes performing the n-methyl-d-aspartate selective glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
serotonin-activated cation-selective channel activity Gene Set From GO Molecular Function Annotations 2015 genes performing the serotonin-activated cation-selective channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
selective ige deficiency disease Gene Set From GWASdb SNP-Disease Associations genes associated with the disease selective ige deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
selective igg deficiency disease Gene Set From GWASdb SNP-Disease Associations genes associated with the disease selective igg deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
selective iga deficiency disease Gene Set From GWASdb SNP-Disease Associations genes associated with the disease selective iga deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
selective immunoglobulin deficiency disease Gene Set From GWASdb SNP-Disease Associations genes associated with the disease selective immunoglobulin deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
selective tooth agenesis Gene Set From GWASdb SNP-Phenotype Associations genes associated with the selective tooth agenesis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
selective tooth agenesis Gene Set From HPO Gene-Disease Associations genes associated with the selective tooth agenesis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Voltage-dependent anion-selective channel protein 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent anion-selective channel protein 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent anion-selective channel protein 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent anion-selective channel protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent anion-selective channel protein 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent anion-selective channel protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Sodium leak channel non-selective protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sodium leak channel non-selective protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
tooth agenesis, selective, 5 Gene Set From OMIM Gene-Disease Associations genes associated with the tooth agenesis, selective, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
tooth agenesis, selective, 4 Gene Set From OMIM Gene-Disease Associations genes associated with the tooth agenesis, selective, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
tooth agenesis, selective, 6 Gene Set From OMIM Gene-Disease Associations genes associated with the tooth agenesis, selective, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
tooth agenesis, selective, 3 Gene Set From OMIM Gene-Disease Associations genes associated with the tooth agenesis, selective, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
tooth agenesis, selective, x-linked 1 Gene Set From OMIM Gene-Disease Associations genes associated with the tooth agenesis, selective, x-linked 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
tooth agenesis, selective, 1, with or without orofacial cleft Gene Set From OMIM Gene-Disease Associations genes associated with the tooth agenesis, selective, 1, with or without orofacial cleft phenotype from the curated OMIM Gene-Disease Associations dataset.
thyroid hormone resistance, selective pituitary Gene Set From OMIM Gene-Disease Associations genes associated with the thyroid hormone resistance, selective pituitary phenotype from the curated OMIM Gene-Disease Associations dataset.
igg2 deficiency, selective Gene Set From OMIM Gene-Disease Associations genes associated with the igg2 deficiency, selective phenotype from the curated OMIM Gene-Disease Associations dataset.
Selective Immunoglobulin A Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Selective Immunoglobulin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Selective Tooth Agenesis Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Selective Tooth Agenesis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Selective Mutism Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Selective Mutism in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Selective Mutism Specific To Childhood And Adolescence Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Selective Mutism Specific To Childhood And Adolescence in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
selective autophagy Gene Set From GO Biological Process Annotations 2023 genes participating in the selective autophagy biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of kainate selective glutamate receptor activity Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of kainate selective glutamate receptor activity biological process from the curated GO Biological Process Annotations 2023 dataset.
serotonin-activated cation-selective channel complex Gene Set From GO Cellular Component Annotations 2023 proteins localized to the serotonin-activated cation-selective channel complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.
NMDA selective glutamate receptor complex Gene Set From GO Cellular Component Annotations 2023 proteins localized to the NMDA selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.
kainate selective glutamate receptor complex Gene Set From GO Cellular Component Annotations 2023 proteins localized to the kainate selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.
serotonin-gated monoatomic cation-selective channel activity Gene Set From GO Molecular Function Annotations 2023 genes performing the serotonin-gated monoatomic cation-selective channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
acetylcholine-gated monoatomic cation-selective channel activity Gene Set From GO Molecular Function Annotations 2023 genes performing the acetylcholine-gated monoatomic cation-selective channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
kainate selective glutamate receptor activity Gene Set From GO Molecular Function Annotations 2023 genes performing the kainate selective glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
single-strand selective uracil DNA N-glycosylase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the single-strand selective uracil DNA N-glycosylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
stretch-activated, monoatomic cation-selective, calcium channel activity Gene Set From GO Molecular Function Annotations 2023 genes performing the stretch-activated, monoatomic cation-selective, calcium channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
Interneuron-selective cell_Brain_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Interneuron-selective cell_Brain_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Selective autophagy Gene Set From Reactome Pathways 2024 proteins participating in the Selective autophagy pathway from the Reactome Pathways 2024 dataset.
serotonin-gated cation-selective signaling pathway Gene Set From GO Biological Process Annotations 2025 genes participating in the serotonin-gated cation-selective signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
NMDA selective glutamate receptor signaling pathway Gene Set From GO Biological Process Annotations 2025 genes participating in the NMDA selective glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
AMPA selective glutamate receptor signaling pathway Gene Set From GO Biological Process Annotations 2025 genes participating in the AMPA selective glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
serotonin-activated cation-selective channel complex Gene Set From GO Cellular Component Annotations 2025 proteins localized to the serotonin-activated cation-selective channel complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.
NMDA selective glutamate receptor complex Gene Set From GO Cellular Component Annotations 2025 proteins localized to the NMDA selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.
kainate selective glutamate receptor complex Gene Set From GO Cellular Component Annotations 2025 proteins localized to the kainate selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.
acetylcholine-gated monoatomic cation-selective channel activity Gene Set From GO Molecular Function Annotations 2025 genes performing the acetylcholine-gated monoatomic cation-selective channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
kainate selective glutamate receptor activity Gene Set From GO Molecular Function Annotations 2025 genes performing the kainate selective glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
single-strand selective uracil DNA N-glycosylase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the single-strand selective uracil DNA N-glycosylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
stretch-activated, monoatomic cation-selective, calcium channel activity Gene Set From GO Molecular Function Annotations 2025 genes performing the stretch-activated, monoatomic cation-selective, calcium channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
Selective IgA deficiency disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Selective IgA deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Selective immunoglobulin deficiency disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Selective immunoglobulin deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Selective IgG deficiency disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Selective IgG deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Selective IgE deficiency disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Selective IgE deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Selective pituitary thyroid hormone resistance Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Selective pituitary thyroid hormone resistance in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
NMDA selective glutamate receptor complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the NMDA selective glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
retromer, cargo-selective complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the retromer, cargo-selective complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
serotonin-activated cation-selective channel complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the serotonin-activated cation-selective channel complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Kainate selective glutamate receptor complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Kainate selective glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
serotonin-activated cation-selective channel complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the serotonin-activated cation-selective channel complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
retromer, cargo-selective complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the retromer, cargo-selective complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Kainate selective glutamate receptor complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Kainate selective glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
NMDA selective glutamate receptor complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the NMDA selective glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Selective pituitary resistance to thyroid hormone Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Selective pituitary resistance to thyroid hormone phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Selective tooth agenesis Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Selective tooth agenesis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Response to selective serotonin reuptake inhibitors in depression Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to selective serotonin reuptake inhibitors in depression phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Response to selective serotonin reuptake inhibitors and depression Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to selective serotonin reuptake inhibitors and depression phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Non-response to selective serotonin reuptake inhibitors and depression Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-response to selective serotonin reuptake inhibitors and depression phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Intra-individual response time variability (selective attention) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Intra-individual response time variability (selective attention) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Selective IgA deficiency Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Selective IgA deficiency phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
SELECTIVE ESTROGEN RECEPTOR COVALENT ANTAGONIST H3B-6545 Gene Set From DGIdb Drug Targets 2026 interacting proteins for the SELECTIVE ESTROGEN RECEPTOR COVALENT ANTAGONIST H3B-6545 drug from theDGIdb Drug Targets 2026 dataset.
SELECTIVE ESTROGEN RECEPTOR DEGRADER AZD9496 Gene Set From DGIdb Drug Targets 2026 interacting proteins for the SELECTIVE ESTROGEN RECEPTOR DEGRADER AZD9496 drug from theDGIdb Drug Targets 2026 dataset.
SELECTIVE ESTROGEN RECEPTOR MODULATOR CC-8490 Gene Set From DGIdb Drug Targets 2026 interacting proteins for the SELECTIVE ESTROGEN RECEPTOR MODULATOR CC-8490 drug from theDGIdb Drug Targets 2026 dataset.
SELECTIVE ESTROGEN RECEPTOR MODULATOR TAS-108 Gene Set From DGIdb Drug Targets 2026 interacting proteins for the SELECTIVE ESTROGEN RECEPTOR MODULATOR TAS-108 drug from theDGIdb Drug Targets 2026 dataset.
SELECTIVE ESTROGEN RECEPTOR MODULATOR Gene Set From DGIdb Drug Targets 2026 interacting proteins for the SELECTIVE ESTROGEN RECEPTOR MODULATOR drug from theDGIdb Drug Targets 2026 dataset.
SELECTIVE CYTOKINE INHIBITORY DRUG CC-1088 Gene Set From DGIdb Drug Targets 2026 interacting proteins for the SELECTIVE CYTOKINE INHIBITORY DRUG CC-1088 drug from theDGIdb Drug Targets 2026 dataset.
MUTANT-SELECTIVE PI3K-ALPHA H1047R INHIBITOR LOXO-783 Gene Set From DGIdb Drug Targets 2026 interacting proteins for the MUTANT-SELECTIVE PI3K-ALPHA H1047R INHIBITOR LOXO-783 drug from theDGIdb Drug Targets 2026 dataset.
MUTANT-SELECTIVE PI3K-ALPHA H1047R INHIBITOR OKI-219 Gene Set From DGIdb Drug Targets 2026 interacting proteins for the MUTANT-SELECTIVE PI3K-ALPHA H1047R INHIBITOR OKI-219 drug from theDGIdb Drug Targets 2026 dataset.
Dandy-Walker like malformation with atrioventricular septal defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dandy-Walker like malformation with atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Protan defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Protan defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardiac conduction defect, nonspecific Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardiac conduction defect, nonspecific phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial septal defect 7 with or without atrioventricular conduction defects Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Phosphate transport defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neutral 1 amino acid transport defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neutral 1 amino acid transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ventricular septal defect 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ventricular septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ventricular septal defect 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ventricular septal defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial septal defect 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Laron-type isolated somatotropin defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Laron-type isolated somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neural tube defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neural tube defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bile acid synthesis defect, congenital, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bile acid synthesis defect, congenital, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glucose-6-phosphate transport defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glucose-6-phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Iodotyrosine deiodination defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Iodotyrosine deiodination defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia due to thrombomodulin defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal carnitine transport defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal carnitine transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrioventricular septal defect 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrioventricular septal defect 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency due to defect in cd3-zeta Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Erythrocyte lactate transporter defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Erythrocyte lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial septal defect 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial septal defect 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial septal defect 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital defect of folate absorption Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oocyte maturation defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Iodotyrosyl coupling defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Iodotyrosyl coupling defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset.
Sacral defect and anterior sacral meningocele Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset.
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.
Cardiac Conduction Defect Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiac Conduction Defect from the curated CTD Gene-Disease Associations dataset.
Atrial septal defect 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial septal defect 2 from the curated CTD Gene-Disease Associations dataset.
ATRIOVENTRICULAR SEPTAL DEFECT 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ATRIOVENTRICULAR SEPTAL DEFECT 3 from the curated CTD Gene-Disease Associations dataset.
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome from the curated CTD Gene-Disease Associations dataset.
Bile acid synthesis defect, congenital, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset.
Bile acid synthesis defect, congenital, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset.
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.
Atrial Septal Defect 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 4 from the curated CTD Gene-Disease Associations dataset.
Atrioventricular Canal Defect Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrioventricular Canal Defect from the curated CTD Gene-Disease Associations dataset.
Bile acid synthesis defect, congenital, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset.
Neural tube defect, folate-sensitive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neural tube defect, folate-sensitive from the curated CTD Gene-Disease Associations dataset.
Atrial Septal Defect 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 6 from the curated CTD Gene-Disease Associations dataset.
Immunodeficiency due to Defect in CD3-Zeta Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.
Atrial Septal Defect 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 5 from the curated CTD Gene-Disease Associations dataset.
Atrial Septal Defect 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 1 from the curated CTD Gene-Disease Associations dataset.
Erythrocyte Lactate Transporter Defect Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Erythrocyte Lactate Transporter Defect from the curated CTD Gene-Disease Associations dataset.
Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset.
atrial heart septal defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease atrial heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
heart septal defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
heart septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ventricular septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
alcohol-related birth defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alcohol-related birth defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
atrioventricular septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease atrioventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
congenital bile acid synthesis defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
atrial heart septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease atrial heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
qualitative platelet defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease qualitative platelet defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
human spermatogenic defect Gene Set From GAD Gene-Disease Associations genes associated with the disease human spermatogenic defect in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
defect Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term defect in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
conotruncal defect Gene Set From GWASdb SNP-Phenotype Associations genes associated with the conotruncal defect phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
thyroid hormone receptor defect Gene Set From HPO Gene-Disease Associations genes associated with the thyroid hormone receptor defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
ventricular septal defect Gene Set From HPO Gene-Disease Associations genes associated with the ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
midline defect of mandible Gene Set From HPO Gene-Disease Associations genes associated with the midline defect of mandible phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
vertebral segmentation defect Gene Set From HPO Gene-Disease Associations genes associated with the vertebral segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
electron transfer flavoprotein-ubiquinone oxidoreductase defect Gene Set From HPO Gene-Disease Associations genes associated with the electron transfer flavoprotein-ubiquinone oxidoreductase defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
secundum atrial septal defect Gene Set From HPO Gene-Disease Associations genes associated with the secundum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
dynein arm defect of respiratory motile cilia Gene Set From HPO Gene-Disease Associations genes associated with the dynein arm defect of respiratory motile cilia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
inlet ventricular septal defect Gene Set From HPO Gene-Disease Associations genes associated with the inlet ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
thyroid defect in oxidation and organification of iodide Gene Set From HPO Gene-Disease Associations genes associated with the thyroid defect in oxidation and organification of iodide phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
adrenocorticotropin (acth) receptor (acthr) defect Gene Set From HPO Gene-Disease Associations genes associated with the adrenocorticotropin (acth) receptor (acthr) defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
sacral segmentation defect Gene Set From HPO Gene-Disease Associations genes associated with the sacral segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abdominal wall defect Gene Set From HPO Gene-Disease Associations genes associated with the abdominal wall defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
visual field defect Gene Set From HPO Gene-Disease Associations genes associated with the visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
atrioventricular canal defect with right ventricle aorta and pulmonary atresia Gene Set From HPO Gene-Disease Associations genes associated with the atrioventricular canal defect with right ventricle aorta and pulmonary atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
muscular ventricular septal defect Gene Set From HPO Gene-Disease Associations genes associated with the muscular ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
defect in the atrial septum Gene Set From HPO Gene-Disease Associations genes associated with the defect in the atrial septum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
congenital septal defect Gene Set From HPO Gene-Disease Associations genes associated with the congenital septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
skull defect Gene Set From HPO Gene-Disease Associations genes associated with the skull defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
generalized hypotonia due to defect at the neuromuscular junction Gene Set From HPO Gene-Disease Associations genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
cervical segmentation defect Gene Set From HPO Gene-Disease Associations genes associated with the cervical segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
atrioventricular canal defect Gene Set From HPO Gene-Disease Associations genes associated with the atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
perimembranous ventricular septal defect Gene Set From HPO Gene-Disease Associations genes associated with the perimembranous ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
midline defect of the nose Gene Set From HPO Gene-Disease Associations genes associated with the midline defect of the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
complete atrioventricular canal defect Gene Set From HPO Gene-Disease Associations genes associated with the complete atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
large central visual field defect Gene Set From HPO Gene-Disease Associations genes associated with the large central visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
conotruncal defect Gene Set From HPO Gene-Disease Associations genes associated with the conotruncal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
primum atrial septal defect Gene Set From HPO Gene-Disease Associations genes associated with the primum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Mannose-P-dolichol utilization defect 1 protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mannose-P-dolichol utilization defect 1 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
atrial septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
perimembraneous ventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
partial atrioventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
inlet ventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
double outlet right ventricle with atrioventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the double outlet right ventricle with atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
iodide oxidation defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the iodide oxidation defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
aorticopulmonary septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the aorticopulmonary septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
double outlet right ventricle, ventricular defect committed to aorta Gene Set From MPO Gene-Phenotype Associations gene mutations causing the double outlet right ventricle, ventricular defect committed to aorta phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
muscular ventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ostium primum atrial septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
complete atrioventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ostium secundum atrial septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ostium secundum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
atrioventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
thrombophilia due to thrombomodulin defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.
bleeding disorder due to p2rx1 defect Gene Set From OMIM Gene-Disease Associations genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.
schizophrenia, neurophysiologic defect in Gene Set From OMIM Gene-Disease Associations genes associated with the schizophrenia, neurophysiologic defect in phenotype from the curated OMIM Gene-Disease Associations dataset.
{atrioventricular septal defect, susceptibility to, 1} Gene Set From OMIM Gene-Disease Associations genes associated with the {atrioventricular septal defect, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.
?isolated growth hormone deficiency due to defect in ghrf Gene Set From OMIM Gene-Disease Associations genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.
erythrocyte lactate transporter defect Gene Set From OMIM Gene-Disease Associations genes associated with the erythrocyte lactate transporter defect phenotype from the curated OMIM Gene-Disease Associations dataset.
ventricular septal defect 2 Gene Set From OMIM Gene-Disease Associations genes associated with the ventricular septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
ventricular septal defect 3 Gene Set From OMIM Gene-Disease Associations genes associated with the ventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set From OMIM Gene-Disease Associations genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 6 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 5 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 4 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 3 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 2 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 1 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 9 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 9 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 8 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 8 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
bile acid synthesis defect, congenital, 1 Gene Set From OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
bile acid synthesis defect, congenital, 3 Gene Set From OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
bile acid synthesis defect, congenital, 2 Gene Set From OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
bile acid synthesis defect, congenital, 4 Gene Set From OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
ventricular septal defect 1 Gene Set From OMIM Gene-Disease Associations genes associated with the ventricular septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
cardiac conduction defect, nonspecific Gene Set From OMIM Gene-Disease Associations genes associated with the cardiac conduction defect, nonspecific phenotype from the curated OMIM Gene-Disease Associations dataset.
rickets due to defect in vitamin d 25-hydroxylation Gene Set From OMIM Gene-Disease Associations genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset.
{atrioventricular septal defect, susceptibility to, 2} Gene Set From OMIM Gene-Disease Associations genes associated with the {atrioventricular septal defect, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.
oocyte maturation defect Gene Set From OMIM Gene-Disease Associations genes associated with the oocyte maturation defect phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria due to transcobalamin receptor defect Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.
atrioventricular septal defect 3 Gene Set From OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrioventricular septal defect 4 Gene Set From OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrioventricular septal defect 5 Gene Set From OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia, x-linked, due to factor ix defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 7, with or without av conduction defects Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency due to defect in mapbp-interacting protein Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.
goiter, familial, due to ttf-1 defect Gene Set From OMIM Gene-Disease Associations genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to thrombin defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.
{cardiac conduction defect, susceptibility to} Gene Set From OMIM Gene-Disease Associations genes associated with the {cardiac conduction defect, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.
Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.
Histidinuria Renal Tubular Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Histidinuria Renal Tubular Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Bile Acid Synthesis Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Bile Acid Synthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Renal Carnitine Transport Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Renal Carnitine Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Atrioventricular Canal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Atrioventricular Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Atrioventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Aortopulmonary Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Aortopulmonary Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Atrial Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Atrial Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ostium Secundum Atrial Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ostium Secundum Atrial Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Alcohol Related Birth Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Alcohol Related Birth Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glucose-6-Phosphate Transport Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Glucose-6-Phosphate Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ventilatory Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Calvarial Skull Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Calvarial Skull Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Single Ventricle Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Single Ventricle Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Defect Of Skull And Scalp Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Defect Of Skull And Scalp in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Coronary Sinus Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Coronary Sinus Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Muscular Ventricular Septum Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Muscular Ventricular Septum Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Perimembranous Ventricular Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Perimembranous Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Triple Gene Defect Alpha Thalassemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Triple Gene Defect Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Defect Of Vertebral Segmentation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Defect Of Vertebral Segmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glycosylphosphatidylinositol Biosynthesis Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Glycosylphosphatidylinositol Biosynthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardiac Conduction Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Conduction Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Patent Or Persistent Ostium Secundum Defect (Type Ii) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Patent Or Persistent Ostium Secundum Defect (Type Ii) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Patent Or Persistent Sinus Venosus Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Patent Or Persistent Sinus Venosus Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Antibody Deficiency Due To Defect In Cd19 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Conotruncal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Conotruncal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ventricular Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Obstructive Ventilatory Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Obstructive Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Partial Defect Of Atrioventricular Canal Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Partial Defect Of Atrioventricular Canal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Synthetic Defect Of Bile Acids Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Synthetic Defect Of Bile Acids in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Bile Acid Synthesis Defect Type 3 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Bile Acid Synthesis Defect Type 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Transitional Atrioventricular Canal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Transitional Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hereditary Bundle Branch System Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Bundle Branch System Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Midline Defect Of The Nose Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Midline Defect Of The Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Thyroid Hormone Plasma Membrane Transport Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Thyroid Hormone Plasma Membrane Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Defect Of Articular Cartilage Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Defect Of Articular Cartilage in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Thoracoabdominal Wall Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Thoracoabdominal Wall Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Pulmonary Atresia With Ventricular Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pulmonary Atresia With Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Membranous Ventricular Septum Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Membranous Ventricular Septum Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Defect Of The Pericardium Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Defect Of The Pericardium in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Insulin Receptor, Defect In Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Insulin Receptor, Defect In in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Iodide Transport Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Iodide Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Neural Tube Defect, Folate-Sensitive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Neural Tube Defect, Folate-Sensitive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Double Outlet Right Ventricle With Doubly Committed Ventricular Septal Defect And Pulmonary Stenosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Double Outlet Right Ventricle With Doubly Committed Ventricular Septal Defect And Pulmonary Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adenosylcobalamin Synthesis Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Adenosylcobalamin Synthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Oocyte Maturation Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Oocyte Maturation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Sacral Defect And Anterior Sacral Meningocele Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Sacral Defect And Anterior Sacral Meningocele in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Renal Tubular Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Renal Tubular Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenitally Corrected Transposition Of The Great Arteries With Ventricular Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenitally Corrected Transposition Of The Great Arteries With Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardiac Valvular Defect, Developmental Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Valvular Defect, Developmental in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ulnar-Fibular Ray Defect And Brachydactyly Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ulnar-Fibular Ray Defect And Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardiac Conduction Defect, Nonprogressive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Conduction Defect, Nonprogressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Corneal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Corneal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Fibrinolytic Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Fibrinolytic Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Erythrocyte Lactate Transporter Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Erythrocyte Lactate Transporter Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mondini Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mondini Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Heart Defect, Tongue Hamartoma And Polysyndactyly Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Heart Defect, Tongue Hamartoma And Polysyndactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mucociliary Clearance Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mucociliary Clearance Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adrenocorticotropin Receptor Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Adrenocorticotropin Receptor Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Color Vision Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Color Vision Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Maturation Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Maturation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Restrictive Ventilatory Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Restrictive Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Heart Defect (In Some Patients) Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Heart Defect (In Some Patients) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cardiac Conduction Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cardiac Conduction Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Retinal Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Retinal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Glaucomatous Visual Field Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Glaucomatous Visual Field Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Dynein Arm Defect Of Respiratory Motile Cilia Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dynein Arm Defect Of Respiratory Motile Cilia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Iris Transillumination Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Iris Transillumination Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Iodide Organification Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Iodide Organification Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cervical Segmentation Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cervical Segmentation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Lacrimal Duct Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lacrimal Duct Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Large Central Visual Field Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Large Central Visual Field Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Unbalanced Atrioventricular Canal Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Unbalanced Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Afferent Pupillary Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Afferent Pupillary Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Ventral Septal Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ventral Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Thyroid Defect In Oxidation And Organification Of Iodide Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Thyroid Defect In Oxidation And Organification Of Iodide in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Activating Thyroid-Stimulating Hormone Receptor Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Activating Thyroid-Stimulating Hormone Receptor Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
perimembraneous ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
double outlet right ventricle with atrioventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the double outlet right ventricle with atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
atrial septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
atrioventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ostium secundum atrial septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ostium secundum atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
complete atrioventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
muscular ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ostium primum atrial septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
inlet ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
aorticopulmonary septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the aorticopulmonary septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
iodide oxidation defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the iodide oxidation defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
partial atrioventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
double outlet right ventricle, ventricular defect committed to aorta Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the double outlet right ventricle, ventricular defect committed to aorta phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
double outlet right ventricle, noncommitted ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the double outlet right ventricle, noncommitted ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
subarterial ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the subarterial ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
repair of mitotic kinetochore microtubule attachment defect Gene Set From GO Biological Process Annotations 2025 genes participating in the repair of mitotic kinetochore microtubule attachment defect biological process from the curated GO Biological Process Annotations 2025 dataset.
Atrial heart septal defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Atrial heart septal defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Heart septal defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Heart septal defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Neural tube defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Neural tube defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital bile acid synthesis defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect 2 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital bile acid synthesis defect 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Neural tube defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neural tube defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Heart septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ventricular septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrioventricular septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrioventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 9 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 4 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Glycosylphosphatidylinositol biosynthesis defect 16 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Glycosylphosphatidylinositol biosynthesis defect 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 6 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to thrombin defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Qualitative platelet defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Qualitative platelet defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Joubert syndrome with orofaciodigital defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Joubert syndrome with orofaciodigital defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
X-linked thrombophilia due to factor IX defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 8 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental cardiac valvular defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental cardiac valvular defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypotrichosis-lymphedema-telangiectasia-renal defect syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to thrombomodulin defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombomodulin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nerve fibre bundle defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nerve fibre bundle defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thyroglobulin synthesis defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thyroglobulin synthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Iodotyrosine deiodination defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Iodotyrosine deiodination defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital defect of folate absorption Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neutral 1 amino acid transport defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neutral 1 amino acid transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital bile acid synthesis defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital bile acid synthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Atrioventricular septal defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to thrombin defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Iris transillumination defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Iris transillumination defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Atrial septal defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Atrial septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Renal carnitine transport defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Renal carnitine transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ventricular septal defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glucose-6-phosphate transport defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glucose-6-phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Phosphate transport defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Peroxisome biogenesis disorder due to PEX1 defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Peroxisome biogenesis disorder due to PEX1 defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Laron- somatotropin defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Laron- somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Color vision defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Color vision defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Protan defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Protan defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Iodotyrosyl coupling defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Iodotyrosyl coupling defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
MPV17-related mitochondrial DNA maintenance defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the MPV17-related mitochondrial DNA maintenance defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neural tube defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neural tube defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Gastrointestinal defect and immunodeficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Gastrointestinal defect and immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Familial atrioventricular septal defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Single Ventricle Defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Single Ventricle Defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Heart defect - tongue hamartoma - polysyndactyly syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Heart defect - tongue hamartoma - polysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Metabolic myopathy due to lactate transporter defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia due to transcobalamin receptor defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Sacral defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Sacral defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Bile acid conjugation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Bile acid conjugation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ulnar/fibula ray defect-brachydactyly syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ulnar/fibula ray defect-brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to defect in CD3-gamma Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thyroid Hormonogenesis Defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thyroid Hormonogenesis Defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Oocyte maturation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycosylphosphatidylinositol biosynthesis defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycosylphosphatidylinositol biosynthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Inherited oocyte maturation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Inherited oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Atrioventricular septal defect and common atrioventricular junction Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Atrioventricular septal defect and common atrioventricular junction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Progressive retinal dystrophy due to retinol transport defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Cardiac valvular defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Cardiac valvular defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Juvenile arthritis due to defect in LA Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Female infertility due to zona pellucida defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Left ventricular obstructive tract defect (inherited effect) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Left ventricular obstructive tract defect (inherited effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Left ventricular obstructive tract defect (maternal effect) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Left ventricular obstructive tract defect (maternal effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Harmonizome 3.0

NALCN Gene

SMUG1 Gene

STHAG5 Gene

SMUG1P1 Gene

selective t-cell defect Gene Set

rho-selective guanine exchange factor akap13 mediates stress fiber formation Gene Set

Congenital sensory neuropathy with selective loss of small myelinated fibers Gene Set

Tooth agenesis, selective, 4 Gene Set

Tooth agenesis, selective, X-linked, 1 Gene Set

Tooth agenesis, selective, 6 Gene Set

Tooth agenesis, selective, 3 Gene Set

Thyroid hormone resistance, selective pituitary Gene Set

alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene Set

n-methyl-d-aspartate selective glutamate receptor complex Gene Set

kainate selective glutamate receptor complex Gene Set

alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene Set

n-methyl-d-aspartate selective glutamate receptor complex Gene Set

Selective Estrogen Receptor Modulators Gene Set

Tooth Agenesis, Selective, X-Linked, 1 Gene Set

Tooth Agenesis, Selective, 5 Gene Set

Tooth Agenesis, Selective, 6 Gene Set

Tooth Agenesis, Selective, 3 Gene Set

Tooth Agenesis, Selective, 2 Gene Set

Thyroid Hormone Resistance, Selective Pituitary Gene Set

selective igg deficiency disease Gene Set

selective iga deficiency disease Gene Set

selective immunoglobulin deficiency disease Gene Set

selective Gene Set

regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Gene Set

regulation of n-methyl-d-aspartate selective glutamate receptor activity Gene Set

alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering Gene Set

regulation of kainate selective glutamate receptor activity Gene Set

positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Gene Set

alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene Set

n-methyl-d-aspartate selective glutamate receptor complex Gene Set

kainate selective glutamate receptor complex Gene Set

kainate selective glutamate receptor activity Gene Set

alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Gene Set

acetylcholine-activated cation-selective channel activity Gene Set

single-strand selective uracil dna n-glycosylase activity Gene Set

n-methyl-d-aspartate selective glutamate receptor activity Gene Set

serotonin-activated cation-selective channel activity Gene Set

selective ige deficiency disease Gene Set

selective igg deficiency disease Gene Set

selective iga deficiency disease Gene Set

selective immunoglobulin deficiency disease Gene Set

selective tooth agenesis Gene Set

selective tooth agenesis Gene Set

Voltage-dependent anion-selective channel protein 3 Gene Set

Voltage-dependent anion-selective channel protein 2 Gene Set

Voltage-dependent anion-selective channel protein 1 Gene Set

Sodium leak channel non-selective protein Gene Set

tooth agenesis, selective, 5 Gene Set

tooth agenesis, selective, 4 Gene Set

tooth agenesis, selective, 6 Gene Set

tooth agenesis, selective, 3 Gene Set

tooth agenesis, selective, x-linked 1 Gene Set

tooth agenesis, selective, 1, with or without orofacial cleft Gene Set

thyroid hormone resistance, selective pituitary Gene Set

igg2 deficiency, selective Gene Set

Selective Immunoglobulin A Deficiency Gene Set

Selective Tooth Agenesis Gene Set

Selective Mutism Gene Set

Selective Mutism Specific To Childhood And Adolescence Gene Set

selective autophagy Gene Set

regulation of kainate selective glutamate receptor activity Gene Set

serotonin-activated cation-selective channel complex Gene Set

NMDA selective glutamate receptor complex Gene Set

kainate selective glutamate receptor complex Gene Set

serotonin-gated monoatomic cation-selective channel activity Gene Set

acetylcholine-gated monoatomic cation-selective channel activity Gene Set

kainate selective glutamate receptor activity Gene Set

single-strand selective uracil DNA N-glycosylase activity Gene Set

stretch-activated, monoatomic cation-selective, calcium channel activity Gene Set

Interneuron-selective cell_Brain_Mouse Gene Set

Selective autophagy Gene Set

serotonin-gated cation-selective signaling pathway Gene Set

NMDA selective glutamate receptor signaling pathway Gene Set

AMPA selective glutamate receptor signaling pathway Gene Set