| Name |
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CTD Gene-Disease Associations DatasetFrom Comparative Toxicogenomics Database Disease-gene interactions from manually curated literature |
DISEASES Curated Gene-Disease Association Evidence Scores Dataset (Archived)From DISEASES Disease gene evidence scores by manual literature curation |
DISEASES Experimental Gene-Disease Association Evidence Scores Dataset (Archived)From DISEASES Disease gene evidence scores by integrating experimental data (GWAS) |
DISEASES Text-mining Gene-Disease Association Evidence Scores Dataset (Archived)From DISEASES Gene-disease co-occurrence scores from text-mining biomedical abstracts |
GAD Gene-Disease Associations DatasetFrom Genetic Association Database Gene-disease associations curated from genetic association studies |
GAD High Level Gene-Disease Associations DatasetFrom Genetic Association Database Gene-disease associations curated from genetic association studies |
GWASdb SNP-Disease Associations DatasetFrom GWASdb SNP-disease association p-values curated from published GWAS |
HPO Gene-Disease Associations DatasetPhenotype-causing gene mutations of human phenotypes from disease knowledgebases |
OMIM Gene-Disease Associations DatasetFrom Online Mendelian Inheritance in Man Disease- or phenotype-causing gene mutations for heritable human diseases or phenotypes curated from biomedical publications |
PhosphoSitePlus Phosphosite-Disease Associations DatasetFrom PhosphoSitePlus Disease-phosphosite associations curated from literature |
DisGeNET Gene-Disease Associations DatasetFrom DisGeNET Gene-disease associations sourced from curated repositories, GWAS catalogues, animal models and the scientific literature |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 DatasetFrom DISEASES Disease gene evidence scores by manual literature curation |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 DatasetFrom DISEASES Disease gene evidence scores by integrating experimental data (GWAS) |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 DatasetFrom DISEASES Gene-disease co-occurrence scores from text-mining biomedical abstracts |
HLCS Geneholocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011] |
MMAA Genemethylmalonic aciduria (cobalamin deficiency) cblA type The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008] |
MMAB Genemethylmalonic aciduria (cobalamin deficiency) cblB type This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011] |
SHFLD3 GeneSplit-hand/foot malformation with long bone deficiency 3 |
GCCD2 GeneGlucocorticoid deficiency 2 |
GCCD3 Geneglucocorticoid deficiency 3 |
IGAD1 Geneimmunoglobulin A (IgA) deficiency susceptibility 1 |
MMACHC Genemethylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] |
SHFLD2 GeneSplit-hand/foot malformation with long deficiency 2 |
MMADHC Genemethylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] |
AGMX2 Geneagammaglobulinemia, X-linked 2 (with growth hormone deficiency) |
RRDX GeneRadial ray deficiency |
MCFD2P1 Genemultiple coagulation factor deficiency 2 pseudogene 1 |
SHFL1 GeneSplit-hand/foot malformation with long bone deficiency 1 |
LOC100216356 Genemethylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria pseudogene |
LOC100216355 Genemethylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria pseudogene |
CANDN1 Genecandidiasis, nail 1 (with ICAM1 deficiency) |
MCFD2 Genemultiple coagulation factor deficiency 2 This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016] |
NKCD GeneNatural killer cell deficiency, familial isolated |
Biotin Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biotin Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
addison disease; addison's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; graves disease; graves' disease; hashimoto disease; polyendocrinopathies, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; addison's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; graves disease; graves' disease; hashimoto disease; polyendocrinopathies, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Biotin Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biotin Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biotin-Dependent Carboxylase Deficiency, Unspecified Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biotin-Dependent Carboxylase Deficiency, Unspecified in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biotin deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Biotin deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Basal ganglia disease, biotin-responsive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Basal ganglia disease, biotin-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Basal ganglia disease, biotin-responsive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Basal ganglia disease, biotin-responsive from the curated CTD Gene-Disease Associations dataset. |
biotin-responsive basal ganglia disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease biotin-responsive basal ganglia disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
biotin-responsive basal ganglia disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease biotin-responsive basal ganglia disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
Basal Ganglia Disease, Biotin-Responsive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Basal Ganglia Disease, Biotin-Responsive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
biotin-responsive basal ganglia disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease biotin-responsive basal ganglia disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
biotin-responsive basal ganglia disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease biotin-responsive basal ganglia disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Biotin-responsive basal ganglia disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Biotin-responsive basal ganglia disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biotin-6689 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the biotin-6689 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
biotin-3289 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the biotin-3289 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
biotin-2428 Gene SetFrom CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the biotin-2428 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. |
Biotin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Biotin from the curated CTD Gene-Chemical Interactions dataset. |
Biotin Gene Setinteracting proteins for the Biotin drug from the curated DrugBank Drug Targets dataset. |
biotin Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term biotin in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
response to biotin Gene SetFrom GO Biological Process Annotations 2015 genes participating in the response to biotin biological process from the curated GO Biological Process Annotations 2015 dataset. |
biotin metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the biotin metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
biotin transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the biotin transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
biotin-[propionyl-coa-carboxylase (atp-hydrolyzing)] ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin-[propionyl-coa-carboxylase (atp-hydrolyzing)] ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin-[methylcrotonoyl-coa-carboxylase] ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin-[methylcrotonoyl-coa-carboxylase] ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin-[acetyl-coa-carboxylase] ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin-[acetyl-coa-carboxylase] ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin-protein ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin-protein ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin carboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin carboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin-[methylmalonyl-coa-carboxytransferase] ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin-[methylmalonyl-coa-carboxytransferase] ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biotin binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biotin binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
Biotin Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Biotin metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Biotin amide Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Biotin amide metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Biotin carboxylation domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin carboxylation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin/lipoate A/B protein ligase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin/lipoate A/B protein ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin--acetyl-CoA-carboxylase ligase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin--acetyl-CoA-carboxylase ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin carboxylase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin carboxylase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin-binding site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin protein ligase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin protein ligase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biotin/lipoyl attachment Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biotin/lipoyl attachment protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
biotin metabolism Gene SetFrom KEGG Pathways proteins participating in the biotin metabolism pathway from the KEGG Pathways dataset. |
thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) Gene SetFrom OMIM Gene-Disease Associations genes associated with the thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) phenotype from the curated OMIM Gene-Disease Associations dataset. |
Biotin transport and metabolism Gene Setproteins participating in the Biotin transport and metabolism pathway from the Reactome Pathways dataset. |
Defects in biotin (Btn) metabolism Gene Setproteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways dataset. |
Biotin-Responsive Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biotin-Responsive Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biotin-[Acetyl-Coa-Carboxylase] Ligase Activity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Biotin-[Acetyl-Coa-Carboxylase] Ligase Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
biotin metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the biotin metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
response to biotin Gene SetFrom GO Biological Process Annotations 2023 genes participating in the response to biotin biological process from the curated GO Biological Process Annotations 2023 dataset. |
biotin transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the biotin transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
biotin import across plasma membrane Gene SetFrom GO Biological Process Annotations 2023 genes participating in the biotin import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset. |
biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
biotin transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biotin transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
biotin carboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biotin carboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
biotin-[acetyl-CoA-carboxylase] ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biotin-[acetyl-CoA-carboxylase] ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
Biotin Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for Biotin metabolite from the MW Gene Metabolite Associations dataset. |
Biotin metabolism including IMDs Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Biotin metabolism including IMDs pathway from the WikiPathways Pathways 2024 dataset. |
Biotin transport and metabolism Gene Setproteins participating in the Biotin transport and metabolism pathway from the Reactome Pathways 2024 dataset. |
Defects in biotin (Btn) metabolism Gene Setproteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways 2024 dataset. |
biotin metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the biotin metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
response to biotin Gene SetFrom GO Biological Process Annotations 2025 genes participating in the response to biotin biological process from the curated GO Biological Process Annotations 2025 dataset. |
biotin transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the biotin transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
biotin import across plasma membrane Gene SetFrom GO Biological Process Annotations 2025 genes participating in the biotin import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset. |
biotin transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the biotin transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
biotin carboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the biotin carboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Biotin carboxylase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Biotin carboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Biotin metabolism Gene SetFrom KEGG Pathways 2026 proteins participating in the Biotin metabolism pathway from the KEGG Pathways 2026 dataset. |
BIOTIN Gene Setinteracting proteins for the BIOTIN drug from theDGIdb Drug Targets 2026 dataset. |
[125I]N-BIOTIN-[AHX0, BPA3]U-II (HUMAN) Gene Setinteracting proteins for the [125I]N-BIOTIN-[AHX0, BPA3]U-II (HUMAN) drug from theDGIdb Drug Targets 2026 dataset. |
ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cardiovascular diseases; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cardiovascular diseases; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; coronary disease; coronary heart disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus; hypertension; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus; hypertension; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; granuloma; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; granuloma; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves' disease; hashimoto disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves' disease; hashimoto disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; crohn disease; crohn's disease; diabetes mellitus; disease; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; crohn disease; crohn's disease; diabetes mellitus; disease; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; parkinson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison disease; graves disease; hashimoto disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; graves disease; hashimoto disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; disease susceptibility Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; disease susceptibility in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; multiple system atrophy; nervous system diseases; parkinson disease; polyradiculoneuropathy, chronic inflammatory demyelinating; tauopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; multiple system atrophy; nervous system diseases; parkinson disease; polyradiculoneuropathy, chronic inflammatory demyelinating; tauopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison disease; autoimmune diseases; graves disease; hashimoto disease; thyroid diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; autoimmune diseases; graves disease; hashimoto disease; thyroid diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cardiovascular diseases; chronic disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cardiovascular diseases; chronic disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
parkinsons disease; alzheimers disease; ataxia; huntingtons disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease parkinsons disease; alzheimers disease; ataxia; huntingtons disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; colorectal neoplasms; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; colorectal neoplasms; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; disease susceptibility; substance-related disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; disease susceptibility; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases; thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; dementia; dementia, vascular; lewy body disease; pick disease of the brain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; dementia; dementia, vascular; lewy body disease; pick disease of the brain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves' disease; hashimoto disease; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves' disease; hashimoto disease; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia; dementia, vascular; lewy body disease; neurodegenerative diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia; dementia, vascular; lewy body disease; neurodegenerative diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; ataxia; diabetes mellitus, type 2; disease; obesity; parkinson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; ataxia; diabetes mellitus, type 2; disease; obesity; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; graves disease; graves' disease; hashimoto disease; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; graves disease; graves' disease; hashimoto disease; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colitis; crohn disease; crohn's disease; disease models, animal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colitis; crohn disease; crohn's disease; disease models, animal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammation; inflammatory bowel disease, nos; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammation; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; graft vs host disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; graft vs host disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Kidney disease (end stage renal disease vs non-end stage renal disease) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Kidney disease (end stage renal disease vs non-end stage renal disease) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neuraminidase deficiency with beta-galactosidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset. |
eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choline deficiency; dna damage; folic acid deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choline deficiency; dna damage; folic acid deficiency 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 SetFrom 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. |
anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
protein c deficiency; protein s deficiency; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Setproteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset. |
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Setproteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset. |
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Setproteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset. |
Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Setproteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset. |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gaucher disease, atypical, due to saposin C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor II deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor IX deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor XI deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor VIII deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carbamoyl-Phosphate Synthase I Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Congenital thrombotic disease, due to Protein C deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset. |
Ornithine Carbamoyltransferase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase Complex Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Krabbe Disease, Atypical, due to Saposin A Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset. |
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset. |
Multiple Sulfatase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multiple Sulfatase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Carboxylase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Carboxylase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
systemic primary carnitine deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
cytochrome-c oxidase deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cytochrome-c oxidase deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
nutritional deficiency disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease nutritional deficiency disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
choline deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease choline deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
coenzyme q10 deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease coenzyme q10 deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
carbamoyl phosphate synthetase i deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease carbamoyl phosphate synthetase i deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
selective igg deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease selective igg deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
nutritional deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease nutritional deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
systemic primary carnitine deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease systemic primary carnitine deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
selective iga deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease selective iga deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
selective immunoglobulin deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease selective immunoglobulin deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
vitamin k deficiency hemorrhagic disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease vitamin k deficiency hemorrhagic disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ahg deficiency disease; hemophilia a; hemorrhage; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hemorrhage; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cytochrome-c oxidase deficiency; leigh disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cytochrome-c oxidase deficiency; leigh disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
airway obstruction; alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease airway obstruction; alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ornithine carbamoyltransferase deficiency disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ornithine carbamoyltransferase deficiency disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; chromosome inversion; hemophilia a; hemorrhage; inversion, chromosome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; chromosome inversion; hemophilia a; hemorrhage; inversion, chromosome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acid lipase deficiency and cholesterol ester storage disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acid lipase deficiency and cholesterol ester storage disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
celiac disease; iga deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease celiac disease; iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron deficiency; anemia of chronic disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron deficiency; anemia of chronic disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; folic acid deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; carcinoma, hepatocellular; hemophilia a; hemophilia b; hepatitis c; lcc - liver cell carcinoma; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; carcinoma, hepatocellular; hemophilia a; hemophilia b; hepatitis c; lcc - liver cell carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; hemophilia a; hepatitis c Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hepatitis c in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; arthritis; hemophilia a; synovitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; arthritis; hemophilia a; synovitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; hemophilia a; hemophilia b; hemorrhage Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hemophilia b; hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd; 21-hydroxylase deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd; 21-hydroxylase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; liver diseases; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; liver diseases; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
celiac disease; common variable immunodeficiency; iga deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease celiac disease; common variable immunodeficiency; iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ahg deficiency disease; hemophilia a Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; coronary disease; factor xii deficiency; hypercholesterolemia; hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; coronary disease; factor xii deficiency; hypercholesterolemia; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
selective ige deficiency disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease selective ige deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
selective igg deficiency disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease selective igg deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
selective iga deficiency disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease selective iga deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
selective immunoglobulin deficiency disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease selective immunoglobulin deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
nutritional deficiency disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease nutritional deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
Ornithine Carbamoyltransferase Deficiency Disease Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ornithine Carbamoyltransferase Deficiency Disease phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
chronic granulomatous disease, autosomal, due to deficiency of cyba Gene SetFrom OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset. |
chronic granulomatous disease due to deficiency of ncf-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
chronic granulomatous disease due to deficiency of ncf-1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Alpha-Aminoadipic Semialdehyde Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha-Aminoadipic Semialdehyde Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lysine Alpha-Ketoglutarate Reductase Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Steroid Sulfatase Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Steroid Sulfatase Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Carbamoyl-Phosphate Synthase I Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hereditary Factor Viii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase Complex Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mild Hereditary Factor Viii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mild Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Properdin Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Properdin Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pyruvate Carboxylase Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pyruvate Carboxylase Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Sulfatase Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Sulfatase Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Argininosuccinic Acid Synthetase Deficiency Disease, Partial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Argininosuccinic Acid Synthetase Deficiency Disease, Partial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Factor I Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Factor I Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Factor Viii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Moderate Hereditary Factor Viii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Moderate Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fucosidase Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fucosidase Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Factor Ii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Factor Ii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Factor X Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Factor X Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Factor Xii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Factor Xii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Factor Ix Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Factor Ix Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tyrosine Transaminase Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tyrosine Transaminase Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Krabbe Disease, Atypical, Due To Saposin A Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Krabbe Disease, Atypical, Due To Saposin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Udpglucose 4-Epimerase Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Udpglucose 4-Epimerase Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Immune Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Immune Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Thrombotic Disease, Due To Protein C Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acquired Factor X Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acquired Factor X Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
cytochrome-c oxidase deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease cytochrome-c oxidase deficiency disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Carbamoyl phosphate synthetase I deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Carbamoyl phosphate synthetase I deficiency disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Systemic primary carnitine deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Pyruvate carboxylase deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Pyruvate carboxylase deficiency disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Coenzyme Q10 deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Coenzyme Q10 deficiency disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
cytochrome-c oxidase deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cytochrome-c oxidase deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nutritional deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nutritional deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Systemic primary carnitine deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Systemic primary carnitine deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Choline deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Choline deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thiamine deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thiamine deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Selective IgA deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Selective IgA deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Selective immunoglobulin deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Selective immunoglobulin deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Selective IgG deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Selective IgG deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Coenzyme Q10 deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Coenzyme Q10 deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Carbamoyl phosphate synthetase I deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Carbamoyl phosphate synthetase I deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Selective IgE deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Selective IgE deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Factor XII deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Factor XII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to glycogen branching enzyme deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Predisposition to invasive fungal disease due to CARD9 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to acid maltase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to acid maltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic multisystem autoimmune disease due to ITCH deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Interstitial lung disease due to ABCA3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Interstitial lung disease due to ABCA3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary factor VIII deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary factor IX deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked lymphoproliferative disease due to SH2D1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary factor XI deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to glucose-6-phosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gaucher disease due to saposin C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Krabbe disease due to saposin A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to muscle beta-enolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle beta-enolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary factor X deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary factor X deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked lymphoproliferative disease due to XIAP deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Protein S deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Protein S deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
crohn disease; crohn's disease; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; melanoma; skin neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; melanoma; skin neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart disease, ischemic; peripheral arterial disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart disease, ischemic; peripheral arterial disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; coronary disease; coronary heart disease; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; coronary disease; coronary heart disease; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hyperhomocysteinemia; pulmonary embolism; pulmonary embolisms; syndrome; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hyperhomocysteinemia; pulmonary embolism; pulmonary embolisms; syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia; dementia, vascular; neurodegenerative diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia; dementia, vascular; neurodegenerative diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; retinal vein occlusion; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; retinal vein occlusion; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; hashimoto disease; hyperthyroidism; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; hashimoto disease; hyperthyroidism; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute coronary syndrome; atherosclerosis; coronary disease; coronary heart disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute coronary syndrome; atherosclerosis; coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; granuloma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; granuloma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hypercholesterolemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; myocardial infarction; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; myocardial infarction; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver disease; wilson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver disease; wilson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic obstructive pulmonary disease/copd; bronchiectatic disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic obstructive pulmonary disease/copd; bronchiectatic disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; dna damage; genomic instability Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; dna damage; genomic instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hemochromatosis; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hemochromatosis; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
parkinson's disease ; alzheimer's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease parkinson's disease ; alzheimer's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart disease, ischemic; cerebrovascular disease, ischemic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart disease, ischemic; cerebrovascular disease, ischemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial fibrillation; blood loss, surgical; coronary disease; coronary heart disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial fibrillation; blood loss, surgical; coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetic angiopathies; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetic angiopathies; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; duodenal diseases; stomach diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; duodenal diseases; stomach diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; sarcoidosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; sarcoidosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison's disease; graves' disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison's disease; graves' disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
kidney disease; vascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease kidney disease; vascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; brain ischemia; coronary disease; coronary heart disease; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; brain ischemia; coronary disease; coronary heart disease; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves ophthalmopathy; hashimoto disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves ophthalmopathy; hashimoto disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcohol amnestic disorder; alcoholism; alzheimer disease; alzheimer's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol amnestic disorder; alcoholism; alzheimer disease; alzheimer's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 1; addison's disease; graves' disease; thyroiditis, chronic lymphocytic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 1; addison's disease; graves' disease; thyroiditis, chronic lymphocytic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; olfaction disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; olfaction disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; nerve degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; nerve degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; encephalitis, herpes simplex; herpes encephalitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; encephalitis, herpes simplex; herpes encephalitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetes mellitus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; aphasia, primary progressive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; aphasia, primary progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; hashimoto disease; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; hashimoto disease; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis; colitis, ulcerative; crohn disease; crohn's disease; ileal diseases; intestinal fistula; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis; colitis, ulcerative; crohn disease; crohn's disease; ileal diseases; intestinal fistula; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; parkinson's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; parkinson's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; myocardial ischemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; myocardial ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison disease; autoimmune diseases; graves disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; autoimmune diseases; graves disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myocardial infarct; crohn's disease; asthma; malaria; malaria infection; kawasaki disease; psoriasis vulgaris; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myocardial infarct; crohn's disease; asthma; malaria; malaria infection; kawasaki disease; psoriasis vulgaris; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; mercury poisoning, nervous system Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; mercury poisoning, nervous system in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia; diabetes mellitus; hypercholesterolemia; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia; diabetes mellitus; hypercholesterolemia; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis; colitis, ulcerative; crohn disease; crohn's disease; ileitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis; colitis, ulcerative; crohn disease; crohn's disease; ileitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia; dementia, vascular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia; dementia, vascular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; dementia; neurodegenerative diseases; parkinson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; dementia; neurodegenerative diseases; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
constriction, pathologic; crohn disease; crohn's disease; intestinal fistula; intestinal obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease constriction, pathologic; crohn disease; crohn's disease; intestinal fistula; intestinal obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; influenza; influenza, human; postoperative complications; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; influenza; influenza, human; postoperative complications; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; vascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; vascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy; cerebral infarction; vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy; cerebral infarction; vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
celiac disease; colitis, ulcerative; crohn disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease celiac disease; colitis, ulcerative; crohn disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult-onset still disease; still's disease, adult-onset Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult-onset still disease; still's disease, adult-onset in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; coronary disease; coronary heart disease; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; coronary disease; coronary heart disease; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; memory disorders; neurodegenerative diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; memory disorders; neurodegenerative diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; myocardial infarction; obesity; weight gain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; myocardial infarction; obesity; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graft vs host disease; hematologic neoplasms; inflammatory bowel disease, nos; inflammatory bowel diseases; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graft vs host disease; hematologic neoplasms; inflammatory bowel disease, nos; inflammatory bowel diseases; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; thromboembolism; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; thromboembolism; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
behcet syndrome; crohn disease; crohn's disease; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease behcet syndrome; crohn disease; crohn's disease; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; central nervous system diseases; parkinson disease; parkinsonian disorders; spinocerebellar ataxias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; central nervous system diseases; parkinson disease; parkinsonian disorders; spinocerebellar ataxias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves' disease; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves' disease; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; amnesia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; amnesia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hypertriglyceridemia; pregnancy complications; weight gain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hypertriglyceridemia; pregnancy complications; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; coronary disease; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; coronary disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular disease; cerebrovascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular disease; cerebrovascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; tuberculosis, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; cholelithiasis; colitis; crohn disease; crohn's disease; erythema nodosum Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; cholelithiasis; colitis; crohn disease; crohn's disease; erythema nodosum in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; brain ischemia; cardiovascular diseases; coronary disease; coronary heart disease; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; brain ischemia; cardiovascular diseases; coronary disease; coronary heart disease; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gaucher disease; nervous system diseases; parkinson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gaucher disease; nervous system diseases; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
calcinosis; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease calcinosis; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; metabolic diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; metabolic diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves' disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves' disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; coronary restenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; coronary restenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; myocardial infarction; postoperative complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; myocardial infarction; postoperative complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; osteomyelitis; unspecified osteomyelitis nos Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; osteomyelitis; unspecified osteomyelitis nos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colorectal neoplasms; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colorectal neoplasms; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graft-versus-host disease; psoriasis; celiac disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graft-versus-host disease; psoriasis; celiac disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease parkinson's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease parkinson's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia; anemia, sickle cell; hemoglobin c disease; hemoglobin sc disease; heterozygous haemoglobin s; malaria, falciparum; parasitemia; sickle cell anemia; sickle cell trait Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia; anemia, sickle cell; hemoglobin c disease; hemoglobin sc disease; heterozygous haemoglobin s; malaria, falciparum; parasitemia; sickle cell anemia; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; colonic neoplasms; crohn disease; crohn's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; colonic neoplasms; crohn disease; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; disorders of excessive somnolence; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; disorders of excessive somnolence; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cerebrovascular disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cerebrovascular disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cardiovascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cardiovascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia; memory disorders; tooth loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia; memory disorders; tooth loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart disease, ischemic; peripheral vascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart disease, ischemic; peripheral vascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angina pectoris; coronary disease; coronary heart disease; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angina pectoris; coronary disease; coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; drug toxicity; edema; nasopharyngitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; drug toxicity; edema; nasopharyngitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; spondylitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; spondylitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; gastrointestinal diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; gastrointestinal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; atrial fibrillation; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; multiple sclerosis; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; atrial fibrillation; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; multiple sclerosis; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gaucher disease; legg-perthes disease; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gaucher disease; legg-perthes disease; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn's disease; ulcerative colitis; inflammatory bowel disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn's disease; ulcerative colitis; inflammatory bowel disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; glaucoma, open-angle Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; glaucoma, open-angle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; crohn disease; crohn's disease; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; crohn disease; crohn's disease; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; postoperative complications; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; postoperative complications; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; inflammation; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; inflammation; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular disease; periodontal disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular disease; periodontal disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; crohn disease; crohn's disease; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; crohn disease; crohn's disease; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; coronary disease; coronary heart disease; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; coronary disease; coronary heart disease; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; heart failure; hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; heart failure; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; dyslipidemias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; dyslipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; osteoporosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; osteoporosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; disease susceptibility Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; disease susceptibility in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; disease susceptibility; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; disease susceptibility; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hypertriglyceridemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hypertriglyceridemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison disease; addison's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; addison's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; down syndrome; olfaction disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; down syndrome; olfaction disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; mucocutaneous lymph node syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; mucocutaneous lymph node syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; fam hyperbetalipoproteinaemia; hypercholesterolemia; hyperlipoproteinemia type ii Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; fam hyperbetalipoproteinaemia; hypercholesterolemia; hyperlipoproteinemia type ii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; coronary artery disease; diabetes, type 2; dementia, vascular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; coronary artery disease; diabetes, type 2; dementia, vascular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; graves disease; graves' disease; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; graves disease; graves' disease; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; hemochromatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; hemochromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; coronary disease; coronary heart disease; stroke; venous thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; coronary disease; coronary heart disease; stroke; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; carotid artery diseases; coronary disease; coronary heart disease; coronary restenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; carotid artery diseases; coronary disease; coronary heart disease; coronary restenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; rheumatoid spondylitis; spondylitis, ankylosing Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; rheumatoid spondylitis; spondylitis, ankylosing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; ileal diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; ileal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; parkinson's disease; insulin; lung function; depression; longevity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; parkinson's disease; insulin; lung function; depression; longevity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
parkinsons disease; alzheimers disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease parkinsons disease; alzheimers disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; neurodegenerative diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; neurodegenerative diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; cardiovascular diseases; coronary disease; disease models, animal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; cardiovascular diseases; coronary disease; disease models, animal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
communicable diseases; coronary disease; coronary heart disease; degenerative arthropathy ; diabetes mellitus; hyperparathyroidism; neoplasms; osteoarthritis; osteoporosis, postmenopausal; psoriasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease communicable diseases; coronary disease; coronary heart disease; degenerative arthropathy ; diabetes mellitus; hyperparathyroidism; neoplasms; osteoarthritis; osteoporosis, postmenopausal; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; coronary artery disease; hyperlipidemias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; coronary artery disease; hyperlipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; inflammation; myocardial infarction; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; inflammation; myocardial infarction; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; atrophy; dementia; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; atrophy; dementia; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
albuminuria; coronary disease; coronary heart disease; hypertension; insulin resistance; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease albuminuria; coronary disease; coronary heart disease; hypertension; insulin resistance; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cadaver; coronary disease; coronary heart disease; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cadaver; coronary disease; coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; arthritis; lupus erythematosus; inflammatory bowel disease; insulin; malaria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; arthritis; lupus erythematosus; inflammatory bowel disease; insulin; malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
rheumatoid arthritis; crohn's disease; diabetes, type 1; celiac disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease rheumatoid arthritis; crohn's disease; diabetes, type 1; celiac disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves ophthalmopathy; hashimoto disease; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves ophthalmopathy; hashimoto disease; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; crohn disease; crohn's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; crohn disease; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; arteriosclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; arteriosclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; intestinal obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; intestinal obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; parkinson's disease; multiple system atrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; parkinson's disease; multiple system atrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
constriction, pathologic; crohn disease; crohn's disease; fibrosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease constriction, pathologic; crohn disease; crohn's disease; fibrosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetic angiopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; dilatation, pathologic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; dilatation, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia, vascular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia, vascular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lewy body disease; parkinson disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lewy body disease; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; amyloidosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; amyloidosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; dementia; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; dementia; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hyperlipidemias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hyperlipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; brain infarction; cerebrovascular disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; brain infarction; cerebrovascular disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sanhoff disease; tay-sachs disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sanhoff disease; tay-sachs disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholangitis, sclerosing; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hypertension, portal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholangitis, sclerosing; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hypertension, portal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hyperhomocysteinemia; myocardial ischemia; recurrence; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hyperhomocysteinemia; myocardial ischemia; recurrence; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; postoperative complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; postoperative complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; fatigue; inflammation; occupational diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; fatigue; inflammation; occupational diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; postoperative complications; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; postoperative complications; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; psoriasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hemochromatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hemochromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; delirium; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; delirium; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease/coronary artery disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease/coronary artery disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; coronary disease; coronary heart disease; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; coronary disease; coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; coronary disease; coronary heart disease; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; coronary disease; coronary heart disease; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; hallucinations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; hallucinations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; growth disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; growth disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves ophthalmopathy; graves' disease; thyroid associated opthalmopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves ophthalmopathy; graves' disease; thyroid associated opthalmopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; lewy body disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; lewy body disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; lewy body disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; lewy body disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; hyperlipidemias; hyperlipoproteinemia type i Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; hyperlipidemias; hyperlipoproteinemia type i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary heart disease; myocardial infarction; stroke; cerebrovascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary heart disease; myocardial infarction; stroke; cerebrovascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; hashimoto disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; hashimoto disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; coronary disease; coronary heart disease; myocardial infarction; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; coronary disease; coronary heart disease; myocardial infarction; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; periodontal pocket; periodontitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; periodontal pocket; periodontitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
addison disease; addison's disease; autoimmune diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease addison disease; addison's disease; autoimmune diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetes mellitus; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; lupus erythematosus, systemic; systemic lupus erythematosus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; lupus erythematosus, systemic; systemic lupus erythematosus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; atrophy; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; atrophy; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; heart failure; inflammation; ventricular dysfunction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; heart failure; inflammation; ventricular dysfunction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
creutzfeldt-jakob disease; gerstmann-straussler-scheinker disease; insomnia, fatal familial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease creutzfeldt-jakob disease; gerstmann-straussler-scheinker disease; insomnia, fatal familial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
celiac disease; colitis, ulcerative; crohn disease; psoriasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease celiac disease; colitis, ulcerative; crohn disease; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; atrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; atrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; chronic obstructive pulmonary disease/copd Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; chronic obstructive pulmonary disease/copd in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroid disease; thyroid disease, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroid disease; thyroid disease, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; genetic predisposition to disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; genetic predisposition to disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; atherosclerosis; coronary disease; coronary heart disease; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; atherosclerosis; coronary disease; coronary heart disease; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; neural tube defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; neural tube defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; cerebrovascular disorders; dementia, vascular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; cerebrovascular disorders; dementia, vascular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetic cardiomyopathies; myocardial ischemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetic cardiomyopathies; myocardial ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; drug-induced liver injury; liver diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; drug-induced liver injury; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetic angiopathies; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetic angiopathies; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; cutaneous fistula; rectal fistula Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; cutaneous fistula; rectal fistula in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; death, sudden; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; death, sudden; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arteriosclerosis; autoimmune diseases; coronary disease; coronary heart disease; hypertension; lupus erythematosus, systemic; systemic lupus erythematosus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriosclerosis; autoimmune diseases; coronary disease; coronary heart disease; hypertension; lupus erythematosus, systemic; systemic lupus erythematosus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; rheumatic diseases; rheumatism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; rheumatic diseases; rheumatism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; graves disease; hashimoto disease; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; graves disease; hashimoto disease; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; spondylarthropathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; spondylarthropathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; lipid metabolism, inborn errors Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Crohn's disease and celiac disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Crohn's disease and celiac disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Cardiovascular Disease+Pulmonary Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiovascular Disease+Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Kidney disease (end stage renal disease vs normoalbuminuria) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Kidney disease (end stage renal disease vs normoalbuminuria) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Parkinson's disease or first degree relation to individual with Parkinson's disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Parkinson's disease or first degree relation to individual with Parkinson's disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease or coronary artery disease (pleiotropy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease or coronary artery disease (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Alzheimer's disease or family history of Alzheimer's disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Alzheimer's disease or family history of Alzheimer's disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Non-alcoholic fatty liver disease activity score in non-alcoholic fatty liver disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-alcoholic fatty liver disease activity score in non-alcoholic fatty liver disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Crohn's disease and celiac disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Crohn's disease and celiac disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (reduced eGFR or end stage renal disease) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (reduced eGFR or end stage renal disease) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (end stage renal disease vs. normal eGFR) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (end stage renal disease vs. normal eGFR) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Kidney disease (reduced eGFR and albuminuria or end stage renal disease) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Kidney disease (reduced eGFR and albuminuria or end stage renal disease) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Kidney disease (end stage renal disease or albuminuria) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Kidney disease (end stage renal disease or albuminuria) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bifunctional peroxisomal enzyme deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked ichthyosis with steryl-sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoglycerate dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Galactosylceramide beta-galactosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated 17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Endplate acetylcholinesterase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sepiapterin reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methionine adenosyltransferase deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carbonic anhydrase va deficiency, hyperammonemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ribose-5-phosphate isomerase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kininogen deficiency, total Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
N-terminal acetyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Creatine deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birbeck granule deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SCID due to ADA deficiency, delayed onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Properdin deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor d deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to protein S deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonyl-CoA epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 8 deficiency type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testosterone 17-beta-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acyl-CoA dehydrogenase family, member 9, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of isobutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral folate deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoserine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine acylcarnitine translocase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinyl-CoA acetoacetate transferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
HNSHA due to aldolase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-activating factor acetylhydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipase deficiency combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
5-Oxoprolinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency with achalasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proopiomelanocortin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrinsic factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
21-hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutaryl-CoA oxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thiopurine methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase II deficiency, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lactate dehydrogenase b deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen deficiency, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Biotinidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Biotinidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant isolated somatotropin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypohidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of phosphoserine phosphatase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated growth hormone deficiency type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anhidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hyaluronoglucosaminidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sulfite oxidase deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen activator inhibitor type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monoamine oxidase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor V deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenine phosphoribosyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamate formiminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoglycemia with deficiency of glycogen synthetase in the liver Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Follicle-stimulating hormone deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ganglioside sialidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C1q deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interferon gamma receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet glycoprotein IV deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
N-acetylaspartate deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Triosephosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aromatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor xiii, a subunit, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylcrotonyl CoA carboxylase 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia due to hexokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosteroid-binding globulin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 9 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holocarboxylase synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
2,4-Dienoyl-CoA reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of glycerate kinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia with vitamin E deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of galactokinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ACTH deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carboxylesterase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Purine-nucleoside phosphorylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal intrahepatic cholestasis caused by citrin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 6 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Antithrombin III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inosine triphosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth hormone deficiency with pituitary anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocysteinemia due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of pyrroline-5-carboxylate reductase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to ficolin 3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sarcosine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor v and factor viii, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branched-chain ketoacid dehydrogenase kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
L-ferritin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arginase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hepatic lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E3-binding protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha-fetoprotein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia due to adenosine kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of iodide peroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycosylphosphatidylinositol deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital lactase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Caspase-8 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoglycerate kinase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anaphylotoxin inactivator deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cytochrome-c oxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enterokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enterokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythrocyte amp deaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor VII deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Apolipoprotein a-i deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glut1 deficiency syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-aminobutyric acid transaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myeloperoxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial phosphate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Porphobilinogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Very long chain acyl-CoA dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IRAK4 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortisone reductase deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arginine:glycine amidinotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methionine adenosyltransferase deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscle AMP deaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropyrimidinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dimethylglycine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hydroxymethylglutaryl-CoA lyase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-alpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isovaleryl-CoA dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd59 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sphingolipid activator protein 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ferroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of steroid 11-beta-monooxygenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lysosomal acid lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dopamine beta hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UDPglucose-4-epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of alpha-mannosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-like growth factor I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate carboxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gluthathione synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fumarase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of transaldolase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial pyruvate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-beta deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MASP2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Argininosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prekallikrein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chitotriosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chitotriosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prothrombin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial trifunctional protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GTP cyclohydrolase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of malonyl-CoA decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 beta-Hydroxysteroid dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinate-semialdehyde dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked agammaglobulinemia with growth hormone deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Okt4 epitope deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of acetyl-CoA acetyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mineralocorticoid deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement 1s deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropteridine reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mannose-binding protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucose transporter type 1 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myd88 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd8 deficiency, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acid-labile subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fructose-biphosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megaloblastic anemia due to dihydrofolate reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor B deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement factor B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proline dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor H deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of aromatic-L-amino-acid decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycine N-methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine carbamoyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sucrase-isomaltase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cholesterol monooxygenase (side-chain cleaving) deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fucosyltransferase 6 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Asparagine synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylate kinase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyrylcholine esterase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Protein S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of glycerol kinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of xanthine oxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Urocanate hydratase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Hydroxyphenylpyruvate dioxygenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of factor V and factor VIII, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor xiii, b subunit, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth deficiency and mental retardation with facial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of sialidase AND beta galactosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prolidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of beta-ureidopropionase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of guanidinoacetate methyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYD88 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset. |
Anemia, Iron-Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Platelet Glycoprotein IV Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Phosphate Carrier Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset. |
Leukocyte Adhesion Deficiency, Type III Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset. |
Prekallikrein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prekallikrein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylenetetrahydrofolate reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor XI Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XI Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine palmitoyl transferase 1A deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset. |
Preaxial deficiency, postaxial polydactyly and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset. |
THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Tyrosine Kinase 2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Properdin deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset. |
Glutathione synthetase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset. |
Glucocorticoid Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Aniridia cerebellar ataxia mental deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Proopiomelanocortin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Proopiomelanocortin Deficiency from the curated CTD Gene-Disease Associations dataset. |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glucocorticoid Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Intrinsic Factor Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Intrinsic Factor Deficiency from the curated CTD Gene-Disease Associations dataset. |
Adenosine monophosphate deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
alpha 1-Antitrypsin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Plasminogen Deficiency, Type I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset. |
IgA Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IgA Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lipase deficiency combined Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset. |
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
DNA Repair-Deficiency Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset. |
Enterokinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Enterokinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset. |
Lactase Deficiency, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset. |
Lecithin Acyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lecithin Acyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Interleukin 2 Receptor, Alpha, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset. |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset. |
Beta ketothiolase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset. |
Transaldolase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Transaldolase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset. |
CD8 Deficiency, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset. |
Neuraminidase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Folic Acid Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lysosomal acid lipase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset. |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset. |
Vitamin B 12 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Isolated Growth Hormone Deficiency, Type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset. |
Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset. |
Familial HDL deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine-Acylcarnitine Translocase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Methylcobalamin Deficiency, CblG Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset. |
Flaujeac factor deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset. |
Ribose 5-Phosphate Isomerase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset. |
VLCAD deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset. |
18-Hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Creatine deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Complex III Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset. |
PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
dopamine beta hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset. |
Growth mental deficiency syndrome of Myhre Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Protein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Protein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor 8 deficiency, acquired Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset. |
3-methylcrotonyl CoA carboxylase 2 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset. |
Adenylosuccinate lyase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset. |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset. |
Thiopurine S methyltranferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Isolated Growth Hormone Deficiency, Type IB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset. |
Vitamin A Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin A Deficiency from the curated CTD Gene-Disease Associations dataset. |
Molybdenum cofactor deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Phosphoglycerate Kinase 1 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset. |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset. |
Plasminogen Activator Inhibitor-1 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase E2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoglycerate Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoglycerate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Vitamin D Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin D Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor V Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor V Deficiency from the curated CTD Gene-Disease Associations dataset. |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
Ataxia with vitamin E deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset. |
Aromatic amino acid decarboxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor X Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor X Deficiency from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset. |
Holocarboxylase Synthetase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Holocarboxylase Synthetase Deficiency from the curated CTD Gene-Disease Associations dataset. |
N-acetyl glutamate synthetase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset. |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset. |
Dimethylglycine Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dimethylglycine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset. |
Trehalase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trehalase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Guanidinoacetate methyltransferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Guanidinoacetate methyltransferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Aminoacylase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Antithrombin III Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Antithrombin III Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoenolpyruvate carboxykinase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset. |
17-Hydroxysteroid Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Heparin Cofactor II Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heparin Cofactor II Deficiency from the curated CTD Gene-Disease Associations dataset. |
Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset. |
D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset. |
Arginine:Glycine Amidinotransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Biotinidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Biotinidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Methionine Adenosyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methionine Adenosyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoenolpyruvate carboxykinase 2 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset. |
Glycine N-Methyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycine N-Methyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Magnesium Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Magnesium Deficiency from the curated CTD Gene-Disease Associations dataset. |
2-Methylbutyryl-CoA Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 2-Methylbutyryl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glycosylphosphatidylinositol deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycosylphosphatidylinositol deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor Xiii, A Subunit, Deficiency Of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor Xiii, A Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset. |
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency from the curated CTD Gene-Disease Associations dataset. |
Leukocyte adhesion deficiency type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukocyte adhesion deficiency type 1 from the curated CTD Gene-Disease Associations dataset. |
Isobutyryl-CoA dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isobutyryl-CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Dihydropyrimidine Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dihydropyrimidine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Corticosteroid-Binding Globulin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corticosteroid-Binding Globulin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset. |
ACTH Deficiency, Isolated Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ACTH Deficiency, Isolated from the curated CTD Gene-Disease Associations dataset. |
Factor XIII, B Subunit, Deficiency Of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset. |
GLUT1 DEFICIENCY SYNDROME 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GLUT1 DEFICIENCY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset. |
Iron-Refractory Iron Deficiency Anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Iron-Refractory Iron Deficiency Anemia from the curated CTD Gene-Disease Associations dataset. |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
Specific Granule Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Specific Granule Deficiency from the curated CTD Gene-Disease Associations dataset. |
Insulin-Like Growth Factor I Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Insulin-Like Growth Factor I Deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement component 5 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement component 5 deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Component 7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Component 7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lactate dehydrogenase deficiency type A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactate dehydrogenase deficiency type A from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
Cortisone reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cortisone reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
Peroxisomal ACYL-COA oxidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Peroxisomal ACYL-COA oxidase deficiency from the curated CTD Gene-Disease Associations dataset. |
NADH cytochrome B5 reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
3b-Hydroxysteroid Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3b-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Thiamine Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thiamine Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Complex II Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Complex II Deficiency from the curated CTD Gene-Disease Associations dataset. |
Sucrase-isomaltase deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Systemic carnitine deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Systemic carnitine deficiency from the curated CTD Gene-Disease Associations dataset. |
Gamma-cystathionase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gamma-cystathionase deficiency from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset. |
Combined Saposin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Saposin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Radial Ray Deficiency, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Radial Ray Deficiency, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Beta-Ureidopropionase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta-Ureidopropionase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset. |
Protein C Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Protein C Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
succinic semialdehyde dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease succinic semialdehyde dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Carboxypeptidase N Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carboxypeptidase N Deficiency from the curated CTD Gene-Disease Associations dataset. |
Purine Nucleoside Phosphorylase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Purine Nucleoside Phosphorylase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Component 4, Partial Deficiency Of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Component 4, Partial Deficiency Of from the curated CTD Gene-Disease Associations dataset. |
Familial Glucocorticoid Deficiency 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset. |
Endplate Acetylcholinesterase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Endplate Acetylcholinesterase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor XIII Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XIII Deficiency from the curated CTD Gene-Disease Associations dataset. |
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Fructose-1,6-Diphosphatase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fructose-1,6-Diphosphatase Deficiency from the curated CTD Gene-Disease Associations dataset. |
MASP2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MASP2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
2,4-Dienoyl-CoA Reductase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 2,4-Dienoyl-CoA Reductase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Alpha-ketoglutarate dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha-ketoglutarate dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Factor H Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Factor H Deficiency from the curated CTD Gene-Disease Associations dataset. |
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 2 DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 2 DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
TRANSCOBALAMIN II DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Prolidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prolidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Leukocyte-Adhesion Deficiency Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukocyte-Adhesion Deficiency Syndrome from the curated CTD Gene-Disease Associations dataset. |
Dihydropyrimidinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dihydropyrimidinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Deficiency Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deficiency Diseases from the curated CTD Gene-Disease Associations dataset. |
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BISPHOSPHOGLYCERATE MUTASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Vitamin E Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin E Deficiency from the curated CTD Gene-Disease Associations dataset. |
PROTHROMBIN DEFICIENCY, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency from the curated CTD Gene-Disease Associations dataset. |
CD59 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Myeloperoxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myeloperoxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylmalonyl-CoA Epimerase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonyl-CoA Epimerase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mevalonate Kinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mevalonate Kinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Factor I Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Factor I Deficiency from the curated CTD Gene-Disease Associations dataset. |
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta-Hydroxyisobutyryl CoA Deacylase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Cytochrome-c Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cytochrome-c Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Hyaluronidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyaluronidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
3-methylcrotonyl CoA carboxylase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Lysosomal beta-mannosidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lysosomal beta-mannosidase deficiency from the curated CTD Gene-Disease Associations dataset. |
Medium chain acyl CoA dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Medium chain acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Familial apoceruloplasmin deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial apoceruloplasmin deficiency from the curated CTD Gene-Disease Associations dataset. |
Metachromatic Leukodystrophy due to Saposin B Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Sulfite oxidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sulfite oxidase deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Kinase Deficiency of Red Cells Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset. |
Factor VII Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor VII Deficiency from the curated CTD Gene-Disease Associations dataset. |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
IRAK4 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IRAK4 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Butyrylcholinesterase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Butyrylcholinesterase deficiency from the curated CTD Gene-Disease Associations dataset. |
Short chain Acyl CoA dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Short chain Acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Gamma aminobutyric acid transaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gamma aminobutyric acid transaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Component 6 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Component 6 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glutamate formiminotransferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutamate formiminotransferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor XII Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XII Deficiency from the curated CTD Gene-Disease Associations dataset. |
Aromatase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aromatase deficiency from the curated CTD Gene-Disease Associations dataset. |
Urocanase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Urocanase deficiency from the curated CTD Gene-Disease Associations dataset. |