Name

germline brca1 mutation Gene Set

From GAD Gene-Disease Associations

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

Ovarian cancer in BRCA1 mutation carriers Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

Breast Cancer in BRCA1 mutation carriers Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

BRCA1 mutation in breast cancer Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Breast Cancer in BRCA1 mutation carriers Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

female germline ring canal Gene Set

From 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 Set

From 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 Set

From 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 mutations Gene Set

From 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.

germline Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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.

g130v mutation Gene Set

From GAD Gene-Disease Associations

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

high frequency of factor v leiden mutation. Gene Set

From GAD Gene-Disease Associations

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

cys39arg mutation Gene Set

From GAD Gene-Disease Associations

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

apolipoprotein e mutation [apolipoprotein e (delta149 leu)] Gene Set

From GAD Gene-Disease Associations

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

cftr mutation spectrum Gene Set

From GAD Gene-Disease Associations

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

heteroallelic ceruloplasmin gene mutation Gene Set

From GAD Gene-Disease Associations

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

LHX1_NULL MUTATION - Ablation_GDS1748_748_mouse_Embryonic kidneys (from day E14.5) Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

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

LHX1_NULL MUTATION - Ablation_GDS1748_749_mouse_Embryonic kidneys (from day E18.5) Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

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

somatic diversification of immune receptors via somatic mutation Gene Set

From GO Biological Process Annotations 2015

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

Breast cancer in BRCA2 mutation carriers Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

somatic mutation Gene Set

From HPO Gene-Disease Associations

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

autosomal dominant somatic cell mutation Gene Set

From HPO Gene-Disease Associations

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

mutation-missense Gene Set

From Phosphosite Textmining Biological Term Annotations

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

Ldlr Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Factor V Leiden Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Low Density Lipoprotein Receptor Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Prothrombin G20210A Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Mitochondrial Dna Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Desmoid Tumor Caused By Somatic Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Methylenetetrahydrofolate Reductase Gene Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Male Infertility With Teratozoospermia Due To Single Gene Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Polg Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Diffuse Midline Glioma, Point Mutation K27M In Histone H3 Gene Set

From DisGeNET Gene-Disease Associations

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

Heterozygous Factor V Leiden Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Homozygous Factor V Leiden Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Factor Ii Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Heterozygous Prothrombin G20210A Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Mutation-Negative Lynch Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Low Density Lipoprotein Receptor Adaptor Protein 1 Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Biallelic Rpe65 Mutation Associated Retinal Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

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

Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene Set

From DisGeNET Gene-Disease Associations

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

Somatic Mutation Gene Set

From DisGeNET Gene-Phenotype Associations

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

Prothrombin Gene Mutation Gene Set

From DisGeNET Gene-Phenotype Associations

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

Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene Set

From DisGeNET Gene-Phenotype Associations

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

Caused By Mutation In The Tbc1 Domain Family, Member 24 Gene (Tbc1D24, 613577.0004) Gene Set

From DisGeNET Gene-Phenotype Associations

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

Caused By Mutation In The Transportin 3 Gene (Tnpo3, 610032.0001) Gene Set

From DisGeNET Gene-Phenotype Associations

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

Caused By Mutation In The Zinc Finger- And Btb Domain-Containing Protein-42 (Zbtb42, 613915.0001) Gene Set

From DisGeNET Gene-Phenotype Associations

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

Effects of MFN2 mutation Gene Set

From WikiPathways Pathways 2024

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

Severe congenital encephalopathy due to MECP2 mutation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Congenital muscular dystrophy due to LMNA mutation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital muscular dystrophy due to LMNA mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Congenital muscular dystrophy due to LMNA mutation Gene Set

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

genes co-occuring with the disease Congenital muscular dystrophy due to LMNA mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital encephalopathy due to MECP2 mutation Gene Set

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

genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Acute myeloid leukemia with biallelic mutation of CEBPA Gene Set

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

genes co-occuring with the disease Acute myeloid leukemia with biallelic mutation of CEBPA in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Lissencephaly due to TUBA1A mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to TUBA1A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital bilateral aplasia of vas deferens from CFTR mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Alagille syndrome due to a JAG1 point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Lissencephaly due to LIS1 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Lissencephaly due to doublecortin gene mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Congenital muscular dystrophy due to LMNA mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Primary familial polycythemia due to EPO receptor mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Desmoid tumor caused by somatic mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Caused by mutation in the TBC1 domain family Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Glycogen storage disease due to SLC37A4 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Alagille syndrome due to a NOTCH2 point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Neurofibromatosis due to NF1 mutation or intragenic deletion Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

DeSanto-Shinawi syndrome due to WAC point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Caused by mutation in the tafazzin gene Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

SIN3A-related intellectual disability syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

POLE Exonuclease Domain Mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Kleefstra syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Hao-Fountain syndrome due to USP7 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Adult diffuse glioma (IDH mutation) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Adult diffuse glioma (IDH mutation, 1p/19q non-codeleted) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Adult diffuse glioma (TERT mutation only) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

EGFR mutation-positive lung adenocarcinoma Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Frontotemporal dementia with GRN mutation (age at onset) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Frontotemporal dementia with GRN mutation Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Parkinson's disease in GBA mutation carriers Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Breast cancer in BRCA2 mutation carriers Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Hereditary hemochromatosis-related traits (HFE mutation homozygotes) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Amyotrophic lateral sclerosis (C9orf72 mutation interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Amyotrophic lateral sclerosis in C9orf72 mutation negative individuals Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Amyotrophic lateral sclerosis in C9orf72 mutation positive individuals Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

PMC7305081-10120_2020_1045_MOESM1_ESM.xlsx-Tab2-Mutation-MAF_MAF Gene Set

From Rummagene Transcription Factor Associations 2026

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

brca1 dependent ub ligase activity Gene Set

From Biocarta Pathways

proteins participating in the brca1 dependent ub ligase activity pathway from the Biocarta Pathways dataset.

role of brca1 brca2 and atr in cancer susceptibility Gene Set

From Biocarta Pathways

proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset.

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

brca1-bard1 complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the brca1-bard1 complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

brca1-a complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the brca1-a complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

brca1-bard1 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the brca1-bard1 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

brca1-b complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the brca1-b complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

brca1-c complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the brca1-c complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

brca1-a complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the brca1-a complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

BRCA1-BARD1-BACH1-DNA damage complex II Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-BACH1-DNA damage complex II protein complex from the CORUM Protein Complexes dataset.

BRCA1-BACH1 complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-BACH1 complex protein complex from the CORUM Protein Complexes dataset.

BRCA1 A complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1 A complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-core RNA polymerase II complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-core RNA polymerase II complex protein complex from the CORUM Protein Complexes dataset.

LMO4-BRCA1-CTIP-LDB1 complex Gene Set

From CORUM Protein Complexes

proteins in the LMO4-BRCA1-CTIP-LDB1 complex protein complex from the CORUM Protein Complexes dataset.

BRCA1 C complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1 C complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-BARD1-BRCA2-DNA damage complex III Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-BRCA2-DNA damage complex III protein complex from the CORUM Protein Complexes dataset.

BRCA1-CTIP-ZBRK1 repressor complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-CTIP-ZBRK1 repressor complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-VCP complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-VCP complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-RAD50-MRE11-NBS1 complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-RAD50-MRE11-NBS1 complex protein complex from the CORUM Protein Complexes dataset.

RAD50-BRCA1 complex Gene Set

From CORUM Protein Complexes

proteins in the RAD50-BRCA1 complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-IRIS-pre-replication complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-IRIS-pre-replication complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-CtIP-CtBP complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-CtIP-CtBP complex protein complex from the CORUM Protein Complexes dataset.

BARD1-BRCA1-CSTF complex Gene Set

From CORUM Protein Complexes

proteins in the BARD1-BRCA1-CSTF complex protein complex from the CORUM Protein Complexes dataset.

BASC (Ab 80) complex (BRCA1-associated genome surveillance complex) Gene Set

From CORUM Protein Complexes

proteins in the BASC (Ab 80) complex (BRCA1-associated genome surveillance complex) protein complex from the CORUM Protein Complexes dataset.

BRCA1 B complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1 B complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-BARD1-BACH1-DNA damage complex I Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-BACH1-DNA damage complex I protein complex from the CORUM Protein Complexes dataset.

SWI-SNF chromatin remodeling-related-BRCA1 complex Gene Set

From CORUM Protein Complexes

proteins in the SWI-SNF chromatin remodeling-related-BRCA1 complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-LMO4-CTIP complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-LMO4-CTIP complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-HDAC1-HDAC2 complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-HDAC1-HDAC2 complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-RNA polymerase II complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-RNA polymerase II complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-BARD1-POLR2A complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-POLR2A complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-SMAD3 complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-SMAD3 complex protein complex from the CORUM Protein Complexes dataset.

BASC (Ab C-20) complex (BRCA1-associated genome surveillance complex) Gene Set

From CORUM Protein Complexes

proteins in the BASC (Ab C-20) complex (BRCA1-associated genome surveillance complex) protein complex from the CORUM Protein Complexes dataset.

BASC (Ab 81) complex (BRCA1-associated genome surveillance complex) Gene Set

From CORUM Protein Complexes

proteins in the BASC (Ab 81) complex (BRCA1-associated genome surveillance complex) protein complex from the CORUM Protein Complexes dataset.

BRCA1-cABL complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-cABL complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-RAD51 complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-RAD51 complex protein complex from the CORUM Protein Complexes dataset.

BARD1-BRCA1-CSTF64 complex Gene Set

From CORUM Protein Complexes

proteins in the BARD1-BRCA1-CSTF64 complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-BARD1-UbcH5c complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-UbcH5c complex protein complex from the CORUM Protein Complexes dataset.

BASC complex (BRCA1-associated genome surveillance complex) Gene Set

From CORUM Protein Complexes

proteins in the BASC complex (BRCA1-associated genome surveillance complex) protein complex from the CORUM Protein Complexes dataset.

BRCA1-BARD1-UbcH7c complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-UbcH7c complex protein complex from the CORUM Protein Complexes dataset.

BRCA1 Gene Set

From ENCODE Transcription Factor Targets

target genes of the BRCA1 transcription factor in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.

genotyping of frequent brca1/2 snps Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genotyping of frequent brca1/2 snps in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brca1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term brca1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

brca1-bard1 complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the brca1-bard1 complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

brca1-a complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the brca1-a complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

BRCA1 Gene Set

From Hub Proteins Protein-Protein Interactions

interacting proteins for hub protein BRCA1 from the curated Hub Proteins Protein-Protein Interactions dataset.

BRCA1-associated 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the BRCA1-associated 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Breast cancer type 1 susceptibility protein (BRCA1) Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Breast cancer type 1 susceptibility protein (BRCA1) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

BRCA1, serine-rich domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the BRCA1, serine-rich domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

FAM175 family, BRCA1-A complex, Abraxas subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAM175 family, BRCA1-A complex, Abraxas subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cofactor of BRCA1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cofactor of BRCA1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

BRISC and BRCA1-A complex member 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the BRISC and BRCA1-A complex member 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

BRCA1 Gene Set

From JASPAR Predicted Transcription Factor Targets

target genes of the BRCA1 transcription factor predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.

BRCA1 Gene Set

From MSigDB Cancer Gene Co-expression Modules

co-expressed genes for BRCA1 from the MSigDB Cancer Gene Co-expression Modules dataset.

SC-6954 (BRCA1) Gene Set

From NURSA Protein Complexes

proteins in the SC-6954 (BRCA1) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset.

AB80 (BRCA1) Gene Set

From NURSA Protein Complexes

proteins in the AB80 (BRCA1) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset.

AB81 (BRCA1) Gene Set

From NURSA Protein Complexes

proteins in the AB81 (BRCA1) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset.

BRCA1 Gene Set

From NURSA Protein-Protein Interactions

interacting proteins for BRCA1 from the NURSA Protein-Protein Interactions dataset.

BRCA1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for BRCA1 from the Pathway Commons Protein-Protein Interactions dataset.

brca1 Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term brca1 in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Brca1 Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Brca1 Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hereditary Breast/Ovarian Cancer - Brca1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hereditary Breast/Ovarian Cancer - Brca1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

BRCA1-BARD1 complex Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the BRCA1-BARD1 complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

BRCA1 Gene Set

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the BRCA1 gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

Defective DNA double strand break response due to BRCA1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective DNA double strand break response due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to BRCA1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

BRCA1-BARD1 complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the BRCA1-BARD1 complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

UWB1.289+BRCA1 cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue UWB1.289+BRCA1 cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

BRCA1-A complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the BRCA1-A complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

BRCA1-BARD1 complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the BRCA1-BARD1 complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

BRCA1-C complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the BRCA1-C complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

BRCA1-B complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the BRCA1-B complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

BRCA1-A complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the BRCA1-A complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

BRCA1-BARD1 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the BRCA1-BARD1 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

BRCA1-C complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the BRCA1-C complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

BRCA1-B complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the BRCA1-B complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

BRCA1-Rad51 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the BRCA1-Rad51 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

BRCA1-related cancer predisposition Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the BRCA1-related cancer predisposition phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

BRCA1/2-negative high-risk breast cancer Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the BRCA1/2-negative high-risk breast cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

BRCA1 Gene Set

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the BRCA1 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.