| Name |
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germline mutations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease germline mutations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gjb2 mutations--phenotypic spectrum and frequencies of gjb2 mutations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gjb2 mutations--phenotypic spectrum and frequencies of gjb2 mutations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
mutations in the atm gene Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mutations in the atm gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bigh3 gene mutations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bigh3 gene mutations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
somatic p53 mutations in hepatocellular carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease somatic p53 mutations in hepatocellular carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations Gene Setproteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations pathway from the Reactome Pathways 2024 dataset. |
Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Gene Setproteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations pathway from the Reactome Pathways 2024 dataset. |
Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD Gene Setproteins participating in the Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD pathway from the Reactome Pathways 2024 dataset. |
Loss-of-function mutations in DBT cause MSUD2 Gene Setproteins participating in the Loss-of-function mutations in DBT cause MSUD2 pathway from the Reactome Pathways 2024 dataset. |
Loss-of-function mutations in DLD cause MSUD3/DLDD Gene Setproteins participating in the Loss-of-function mutations in DLD cause MSUD3/DLDD pathway from the Reactome Pathways 2024 dataset. |
Familial hyperthyroidism due to mutations in TSH receptor Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial hyperthyroidism due to mutations in TSH receptor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypothyroidism due to TSH receptor mutations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypothyroidism due to TSH receptor mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rubinstein-Taybi syndrome due to CREBBP mutations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rubinstein-Taybi syndrome due to CREBBP mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pancytopenia due to IKZF1 mutations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pancytopenia due to IKZF1 mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pulmonary arterial hypertension (without BMPR2 mutations) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pulmonary arterial hypertension (without BMPR2 mutations) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
female germline ring canal Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the female germline ring canal cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
female germline ring canal inner rim Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the female germline ring canal inner rim cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
germline ring canal Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the germline ring canal cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
germline brca1 mutation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease germline brca1 mutation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
germline Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term germline in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
somatic diversification of immune receptors via germline recombination within a single locus Gene SetFrom GO Biological Process Annotations 2015 genes participating in the somatic diversification of immune receptors via germline recombination within a single locus biological process from the curated GO Biological Process Annotations 2015 dataset. |
germline cell cycle switching, mitotic to meiotic cell cycle Gene SetFrom GO Biological Process Annotations 2015 genes participating in the germline cell cycle switching, mitotic to meiotic cell cycle biological process from the curated GO Biological Process Annotations 2015 dataset. |
germline stem cell asymmetric division Gene SetFrom GO Biological Process Annotations 2015 genes participating in the germline stem cell asymmetric division biological process from the curated GO Biological Process Annotations 2015 dataset. |
germline cell cycle switching, mitotic to meiotic cell cycle Gene SetFrom GO Biological Process Annotations 2023 genes participating in the germline cell cycle switching, mitotic to meiotic cell cycle biological process from the curated GO Biological Process Annotations 2023 dataset. |
germline stem cell asymmetric division Gene SetFrom GO Biological Process Annotations 2023 genes participating in the germline stem cell asymmetric division biological process from the curated GO Biological Process Annotations 2023 dataset. |
Germline stem cell_Ovarian cortex_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Germline stem cell_Ovarian cortex_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
germline cell cycle switching, mitotic to meiotic cell cycle Gene SetFrom GO Biological Process Annotations 2025 genes participating in the germline cell cycle switching, mitotic to meiotic cell cycle biological process from the curated GO Biological Process Annotations 2025 dataset. |
germline stem cell asymmetric division Gene SetFrom GO Biological Process Annotations 2025 genes participating in the germline stem cell asymmetric division biological process from the curated GO Biological Process Annotations 2025 dataset. |
Male germline ring canal Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Male germline ring canal cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Germline ring canal Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Germline ring canal cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Female germline ring canal Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Female germline ring canal cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Inherited polyposis and early onset colorectal cancer - germline testing Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inherited polyposis and early onset colorectal cancer - germline testing phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
