Name

CCLE Cell Line Gene Mutation Profiles Dataset

From Cancer Cell Line Encyclopedia

Gene-level mutation profiles for cancer cell lines

COSMIC Cell Line Gene Mutation Profiles Dataset

From Catalogue of Somatic Mutations In Cancer

Gene mutations in cancer cell lines from low-throughput or high-throughput studies

Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles Dataset

From Klijn et al., Nat. Biotechnol., 2015

SNP gene mutations in cancer cell lines identified by microarray

MFN2 Gene

mitofusin 2

This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

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.

mfn2 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term mfn2 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

MFN2 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for MFN2 from the Pathway Commons Protein-Protein Interactions dataset.

MFN2 Gene Set

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the MFN2 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set

From Biocarta Pathways

proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.

effects of calcineurin in keratinocyte differentiation Gene Set

From Biocarta Pathways

proteins participating in the effects of calcineurin in keratinocyte differentiation pathway from the Biocarta Pathways dataset.

Prenatal Exposure Delayed Effects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Prenatal Exposure Delayed Effects from the curated CTD Gene-Disease Associations dataset.

Drug-Related Side Effects and Adverse Reactions Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Drug-Related Side Effects and Adverse Reactions from the curated CTD Gene-Disease Associations dataset.

asthma; prenatal exposure delayed effects; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; prenatal exposure delayed effects; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

estramustine phospate side-effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease estramustine phospate side-effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pregnancy complications; prenatal exposure delayed effects; serotonin syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pregnancy complications; prenatal exposure delayed effects; serotonin syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sulfasalazine, adverse effects of Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sulfasalazine, adverse effects of in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

loperamide disposition and central nervous system effects. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease loperamide disposition and central nervous system effects. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prenatal exposure delayed effects; respiratory tract diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease prenatal exposure delayed effects; respiratory tract diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrophy; prenatal exposure delayed effects; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrophy; prenatal exposure delayed effects; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

inflammation; prenatal exposure delayed effects; recurrence; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease inflammation; prenatal exposure delayed effects; recurrence; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

extrapyramidal side effects Gene Set

From GAD Gene-Disease Associations

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

severe acute radiotherapy side effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, drug-induced; epilepsy; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, drug-induced; epilepsy; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

side-effects of clozapine Gene Set

From GAD Gene-Disease Associations

genes associated with the disease side-effects of clozapine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lead poisoning; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lead poisoning; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dermatitis, atopic; eczema allergic; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dermatitis, atopic; eczema allergic; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft palate; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft palate; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hiv infections; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hiv infections; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pregnancy complications; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pregnancy complications; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diet effects Gene Set

From GAD Gene-Disease Associations

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

memory disorders; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease memory disorders; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, lymphocytic, acute, l1; precursor cell lymphoblastic leukemia-lymphoma; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, lymphocytic, acute, l1; precursor cell lymphoblastic leukemia-lymphoma; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcohol effects Gene Set

From GAD Gene-Disease Associations

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

birth weight; cerebral palsy; intracranial thrombosis; obstetric labor complications; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; cerebral palsy; intracranial thrombosis; obstetric labor complications; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcohol-induced disorders; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcohol-induced disorders; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antidepressant adverse effects Gene Set

From GAD Gene-Disease Associations

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

citalopram/adverse effects* Gene Set

From GAD Gene-Disease Associations

genes associated with the disease citalopram/adverse effects* in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

smoking genotoxic effects Gene Set

From GAD Gene-Disease Associations

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

asthma; prenatal exposure delayed effects; respiratory hypersensitivity; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; prenatal exposure delayed effects; respiratory hypersensitivity; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prenatal exposure delayed effects; starvation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease prenatal exposure delayed effects; starvation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lymphocytic leukemia; precursor cell lymphoblastic leukemia-lymphoma; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lymphocytic leukemia; precursor cell lymphoblastic leukemia-lymphoma; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

response to antipsychotic therapy (extrapyramidal side effects) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease response to antipsychotic therapy (extrapyramidal side effects) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal growth retardation; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal growth retardation; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal diseases; nutrition disorders; osteoporosis; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal diseases; nutrition disorders; osteoporosis; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

effects Gene Set

From GeneRIF Biological Term Annotations

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

Response to antipsychotic therapy (extrapyramidal side effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Response to antipsychotic therapy (extrapyramidal side effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Thiazide-induced adverse metabolic effects in hypertensive patients Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Thiazide-induced adverse metabolic effects in hypertensive patients phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Prenatal Exposure Delayed Effects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Prenatal Exposure Delayed Effects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

radiation-effects Gene Set

From Phosphosite Textmining Biological Term Annotations

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

Effects of Botulinum toxin Gene Set

From PID Pathways

proteins participating in the Effects of Botulinum toxin pathway from the PID Pathways dataset.

Effects of PIP2 hydrolysis Gene Set

From Reactome Pathways 2014

proteins participating in the Effects of PIP2 hydrolysis pathway from the Reactome Pathways dataset.

cGMP effects Gene Set

From Reactome Pathways 2014

proteins participating in the cGMP effects pathway from the Reactome Pathways dataset.

Insulin effects increased synthesis of Xylulose-5-Phosphate Gene Set

From Reactome Pathways 2014

proteins participating in the Insulin effects increased synthesis of Xylulose-5-Phosphate pathway from the Reactome Pathways dataset.

NS1 Mediated Effects on Host Pathways Gene Set

From Reactome Pathways 2014

proteins participating in the NS1 Mediated Effects on Host Pathways pathway from the Reactome Pathways dataset.

Effects of Nitric Oxide(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Effects of Nitric Oxide(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

Adverse Effects, Not Elsewhere Classified Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adverse Effects, Not Elsewhere Classified in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Prenatal Exposure Delayed Effects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Prenatal Exposure Delayed Effects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Effects Of Heat Gene Set

From DisGeNET Gene-Phenotype Associations

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

Effects of nitric oxide Gene Set

From WikiPathways Pathways 2024

proteins participating in the Effects of nitric oxide pathway from the WikiPathways Pathways 2024 dataset.

Alzheimer 39 s disease and miRNA effects Gene Set

From WikiPathways Pathways 2024

proteins participating in the Alzheimer 39 s disease and miRNA effects pathway from the WikiPathways Pathways 2024 dataset.

Overview of nanoparticle effects Gene Set

From WikiPathways Pathways 2024

proteins participating in the Overview of nanoparticle effects pathway from the WikiPathways Pathways 2024 dataset.

EV release from cardiac cells and their functional effects Gene Set

From WikiPathways Pathways 2024

proteins participating in the EV release from cardiac cells and their functional effects pathway from the WikiPathways Pathways 2024 dataset.

Melatonin metabolism and effects Gene Set

From WikiPathways Pathways 2024

proteins participating in the Melatonin metabolism and effects pathway from the WikiPathways Pathways 2024 dataset.

Ethanol effects on histone modifications Gene Set

From WikiPathways Pathways 2024

proteins participating in the Ethanol effects on histone modifications pathway from the WikiPathways Pathways 2024 dataset.

Thyroid hormones production and peripheral downstream signaling effects Gene Set

From WikiPathways Pathways 2024

proteins participating in the Thyroid hormones production and peripheral downstream signaling effects pathway from the WikiPathways Pathways 2024 dataset.

Antiviral and anti inflammatory effects of Nrf2 on SARS CoV 2 pathway Gene Set

From WikiPathways Pathways 2024

proteins participating in the Antiviral and anti inflammatory effects of Nrf2 on SARS CoV 2 pathway pathway from the WikiPathways Pathways 2024 dataset.

Abnormal calcium handling and its effects on muscle contraction in DMD Gene Set

From WikiPathways Pathways 2024

proteins participating in the Abnormal calcium handling and its effects on muscle contraction in DMD pathway from the WikiPathways Pathways 2024 dataset.

Effects of PIP2 hydrolysis Gene Set

From Reactome Pathways 2024

proteins participating in the Effects of PIP2 hydrolysis pathway from the Reactome Pathways 2024 dataset.

Insulin effects increased synthesis of Xylulose-5-Phosphate Gene Set

From Reactome Pathways 2024

proteins participating in the Insulin effects increased synthesis of Xylulose-5-Phosphate pathway from the Reactome Pathways 2024 dataset.

NS1 Mediated Effects on Host Pathways Gene Set

From Reactome Pathways 2024

proteins participating in the NS1 Mediated Effects on Host Pathways pathway from the Reactome Pathways 2024 dataset.

SARS-CoV-1-mediated effects on programmed cell death Gene Set

From Reactome Pathways 2024

proteins participating in the SARS-CoV-1-mediated effects on programmed cell death pathway from the Reactome Pathways 2024 dataset.

cGMP effects Gene Set

From Reactome Pathways 2024

proteins participating in the cGMP effects pathway from the Reactome Pathways 2024 dataset.

Spherical equivalent (joint analysis main effects and education interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Spherical equivalent (joint analysis main effects and education interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Response to antipsychotic therapy (extrapyramidal side effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Response to antipsychotic therapy (extrapyramidal side effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thiazide-induced adverse metabolic effects in hypertensive patients Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thiazide-induced adverse metabolic effects in hypertensive patients phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Conotruncal heart defects (maternal effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Conotruncal heart defects (maternal effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Conotruncal heart defects (inherited effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Conotruncal heart defects (inherited effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (joint analysis main effects and physical activity interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (joint analysis main effects and physical activity interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (joint analysis main effects and smoking interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (joint analysis main effects and smoking interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Food allergy (maternal genetic effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Food allergy (maternal genetic effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Peanut allergy (maternal genetic effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Peanut allergy (maternal genetic effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Milk allergy (maternal genetic effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Milk allergy (maternal genetic effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Egg allergy (maternal genetic effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Egg allergy (maternal genetic effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Response to ketamine in bipolar disorder or major depression (antidepressant effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Response to ketamine in bipolar disorder or major depression (antidepressant effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Response to ketamine in bipolar disorder or major depression (dissociation effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Response to ketamine in bipolar disorder or major depression (dissociation effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.