Hepatic lipase deficiency

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Results for "Hepatic lipase deficiency": 1002 gene sets

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Hepatic lipase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
hepatic lipase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hepatic lipase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
Hepatic Lipase Deficiency (Disorder) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Lipase Deficiency (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperlipidemia due to hepatic triglyceride lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
lower levels of hepatic lipase activity buoyant ldl and higher hdl2 cholesterol Gene Set From GAD Gene-Disease Associations genes associated with the disease lower levels of hepatic lipase activity buoyant ldl and higher hdl2 cholesterol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
low hepatic lipase activity Gene Set From GAD Gene-Disease Associations genes associated with the disease low hepatic lipase activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
diabetes, type 2; hepatic lipase activity Gene Set From GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; hepatic lipase activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Hepatic lipase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Hepatic lipase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Lipase deficiency combined Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lysosomal acid lipase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lipase deficiency combined Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset.
Lysosomal acid lipase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.
familial lipoprotein lipase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial lipoprotein lipase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
familial lipoprotein lipase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial lipoprotein lipase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
acid lipase deficiency and cholesterol ester storage disease Gene Set From 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.
pancreatic lipase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the pancreatic lipase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
lipoprotein lipase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the lipoprotein lipase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
lipase deficiency, combined Gene Set From OMIM Gene-Disease Associations genes associated with the lipase deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.
Deficiency Of Triacylglycerol Lipase Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Triacylglycerol Lipase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Lipase Deficiency Combined Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Lipase Deficiency Combined in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Pancreatic Lipase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pancreatic Lipase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Pancreatic Triacylglycerol Lipase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pancreatic Triacylglycerol Lipase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Familial lipoprotein lipase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial lipoprotein lipase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Lysosomal acid lipase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Lysosomal acid lipase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Lysosomal acid lipase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lysosomal acid lipase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Familial lipoprotein lipase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial lipoprotein lipase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Familial lipase maturation factor 1 deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial lipase maturation factor 1 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Lysosomal acid lipase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Lipase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Pancreatic triacylglycerol lipase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pancreatic triacylglycerol lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
cpt deficiency, hepatic, type ii Gene Set From OMIM Gene-Disease Associations genes associated with the cpt deficiency, hepatic, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.
cpt deficiency, hepatic, type ia Gene Set From OMIM Gene-Disease Associations genes associated with the cpt deficiency, hepatic, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.
Hepatic Methionine Adenosyltransferase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Methionine Adenosyltransferase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic methionine adenosyltransferase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hepatic methionine adenosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disorder due to hepatic glycogen synthase deficiency 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 Set From 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 Set From 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 Set From 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.
postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set From GAD Gene-Disease Associations genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set From GAD Gene-Disease Associations genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
lower lipoprotein lipase activity Gene Set From GAD Gene-Disease Associations genes associated with the disease lower lipoprotein lipase activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
lipase Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term lipase in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
negative regulation of lipase activity Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of lipase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of lipoprotein lipase activity Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of lipoprotein lipase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of triglyceride lipase activity Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of triglyceride lipase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of lipoprotein lipase activity Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of lipoprotein lipase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of lipoprotein lipase activity Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of lipoprotein lipase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of lipase activity Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of lipase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of lipase activity Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of lipase activity biological process from the curated GO Biological Process Annotations 2015 dataset.
lipase binding Gene Set From GO Molecular Function Annotations 2015 genes performing the lipase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
hormone-sensitive lipase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the hormone-sensitive lipase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
triglyceride lipase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the triglyceride lipase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
lipoprotein lipase activator activity Gene Set From GO Molecular Function Annotations 2015 genes performing the lipoprotein lipase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
acylglycerol lipase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the acylglycerol lipase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
lipase inhibitor activity Gene Set From GO Molecular Function Annotations 2015 genes performing the lipase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
lipase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the lipase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
lipoprotein lipase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the lipoprotein lipase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
lipase activator activity Gene Set From GO Molecular Function Annotations 2015 genes performing the lipase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
Triacylglycerol lipase family Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Triacylglycerol lipase family protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Lipase/lipooxygenase, PLAT/LH2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Lipase/lipooxygenase, PLAT/LH2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Fungal lipase-like domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Fungal lipase-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Lipase maturation factor Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Lipase maturation factor protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Pancreatic lipase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Pancreatic lipase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Hormone-sensitive lipase, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Hormone-sensitive lipase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Lipoprotein lipase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Lipoprotein lipase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Monoacylglycerol lipase protein ABHD12 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Monoacylglycerol lipase protein ABHD12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Lipase, GDSL, active site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Lipase, GDSL, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Lipase, LIPH-type Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Lipase, LIPH-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Lipase, GDXG, active site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Lipase, GDXG, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Lipase, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Lipase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Partial AB-hydrolase lipase domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Partial AB-hydrolase lipase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
GDSL lipase/esterase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the GDSL lipase/esterase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Domain of unknown function DUF676, lipase-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Domain of unknown function DUF676, lipase-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Lipase, eukaryotic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Lipase, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
abnormal hormone-sensitive lipase activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal hormone-sensitive lipase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
increased lipoprotein lipase activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the increased lipoprotein lipase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
decreased lipoprotein lipase activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the decreased lipoprotein lipase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal triglyceride lipase activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal triglyceride lipase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
decreased triglyceride lipase activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the decreased triglyceride lipase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
decreased hormone-sensitive lipase activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the decreased hormone-sensitive lipase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
increased circulating lipase level Gene Set From MPO Gene-Phenotype Associations gene mutations causing the increased circulating lipase level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal circulating lipase level Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal circulating lipase level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal lipoprotein lipase activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal lipoprotein lipase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
increased triglyceride lipase activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the increased triglyceride lipase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis Gene Set From Reactome Pathways 2014 proteins participating in the Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis pathway from the Reactome Pathways dataset.
Lipase Hypersecretion Syndrome Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lipase Hypersecretion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Lipoprotein Lipase (Olbia) Phenotype Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lipoprotein Lipase (Olbia) Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
negative regulation of lipase activity Gene Set From GO Biological Process Annotations 2023 genes participating in the negative regulation of lipase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
negative regulation of lipoprotein lipase activity Gene Set From GO Biological Process Annotations 2023 genes participating in the negative regulation of lipoprotein lipase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of lipoprotein lipase activity Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of lipoprotein lipase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of lipase activity Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of lipase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of lipoprotein lipase activity Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of lipoprotein lipase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of triglyceride lipase activity Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of triglyceride lipase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of lipase activity Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of lipase activity biological process from the curated GO Biological Process Annotations 2023 dataset.
acylglycerol lipase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the acylglycerol lipase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
lipase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the lipase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
lipase inhibitor activity Gene Set From GO Molecular Function Annotations 2023 genes performing the lipase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
lipoprotein lipase activator activity Gene Set From GO Molecular Function Annotations 2023 genes performing the lipoprotein lipase activator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
lipase binding Gene Set From GO Molecular Function Annotations 2023 genes performing the lipase binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
lipoprotein lipase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the lipoprotein lipase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
triglyceride lipase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the triglyceride lipase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
hormone-sensitive lipase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the hormone-sensitive lipase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
lipase activator activity Gene Set From GO Molecular Function Annotations 2023 genes performing the lipase activator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
increased lipoprotein lipase activity Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased lipoprotein lipase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased lipoprotein lipase activity Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased lipoprotein lipase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased triglyceride lipase activity Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased triglyceride lipase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal circulating lipase level Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal circulating lipase level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased circulating lipase level Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased circulating lipase level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased hormone-sensitive lipase activity Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased hormone-sensitive lipase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased hormone-sensitive lipase activity Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased hormone-sensitive lipase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased triglyceride lipase activity Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased triglyceride lipase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased circulating lipase level Gene Set From IMPC Knockout Mouse Phenotypes gene knockouts causing the increased circulating lipase level phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.
Assembly of active LPL and LIPC lipase complexes Gene Set From Reactome Pathways 2024 proteins participating in the Assembly of active LPL and LIPC lipase complexes pathway from the Reactome Pathways 2024 dataset.
negative regulation of lipase activity Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of lipase activity biological process from the curated GO Biological Process Annotations 2025 dataset.
negative regulation of lipoprotein lipase activity Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of lipoprotein lipase activity biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of lipoprotein lipase activity Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of lipoprotein lipase activity biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of lipase activity Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of lipase activity biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of triglyceride lipase activity Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of triglyceride lipase activity biological process from the curated GO Biological Process Annotations 2025 dataset.
monoacylglycerol lipase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the monoacylglycerol lipase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
lipase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the lipase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
lipase inhibitor activity Gene Set From GO Molecular Function Annotations 2025 genes performing the lipase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
lipoprotein lipase activator activity Gene Set From GO Molecular Function Annotations 2025 genes performing the lipoprotein lipase activator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
lipase binding Gene Set From GO Molecular Function Annotations 2025 genes performing the lipase binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
lipoprotein lipase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the lipoprotein lipase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
triacylglycerol lipase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the triacylglycerol lipase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
diacylglycerol lipase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the diacylglycerol lipase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
lipase activator activity Gene Set From GO Molecular Function Annotations 2025 genes performing the lipase activator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
LIPOPROTEIN LIPASE Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the LIPOPROTEIN LIPASE phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Serum lipase activity Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Serum lipase activity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
High serum lipase activity Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the High serum lipase activity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Renal-hepatic-pancreatic dysplasia 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal-hepatic-pancreatic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hepatic venoocclusive disease with immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hepatic venoocclusive disease with immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Porphyria, Acute Hepatic Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Porphyria, Acute Hepatic from the curated CTD Gene-Disease Associations dataset.
Hepatic Veno-Occlusive Disease Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hepatic Veno-Occlusive Disease from the curated CTD Gene-Disease Associations dataset.
Hepatic venoocclusive disease with immunodeficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hepatic venoocclusive disease with immunodeficiency from the curated CTD Gene-Disease Associations dataset.
Hepatic Encephalopathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hepatic Encephalopathy from the curated CTD Gene-Disease Associations dataset.
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.
Hepatic Adenomas, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hepatic Adenomas, Familial from the curated CTD Gene-Disease Associations dataset.
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset.
Porphyrias, Hepatic Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Porphyrias, Hepatic from the curated CTD Gene-Disease Associations dataset.
Renal hepatic pancreatic dysplasia Dandy Walker cyst Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Renal hepatic pancreatic dysplasia Dandy Walker cyst from the curated CTD Gene-Disease Associations dataset.
Massive Hepatic Necrosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Massive Hepatic Necrosis from the curated CTD Gene-Disease Associations dataset.
Hepatic Insufficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hepatic Insufficiency from the curated CTD Gene-Disease Associations dataset.
hepatic vein thrombosis Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hepatic vein thrombosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
hepatic angiomyolipoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hepatic angiomyolipoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
hepatic encephalopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hepatic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
hepatic vascular disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hepatic vascular disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
hepatic coma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hepatic coma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
hepatic tuberculosis Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hepatic tuberculosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
sclerosing hepatic carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease sclerosing hepatic carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
hepatic gsta1/gsta2 expression Gene Set From GAD Gene-Disease Associations genes associated with the disease hepatic gsta1/gsta2 expression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
plasma glucose, basal hepatic glucose and increased insulin release Gene Set From GAD Gene-Disease Associations genes associated with the disease plasma glucose, basal hepatic glucose and increased insulin release in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis Gene Set From GAD Gene-Disease Associations genes associated with the disease adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hepatic cyp3a4 expression Gene Set From GAD Gene-Disease Associations genes associated with the disease hepatic cyp3a4 expression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hepatic iron and fibrosis Gene Set From GAD Gene-Disease Associations genes associated with the disease hepatic iron and fibrosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hepatic veno-occlusive disease Gene Set From GAD Gene-Disease Associations genes associated with the disease hepatic veno-occlusive disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hepatic encephalopathy; liver cirrhosis Gene Set From GAD Gene-Disease Associations genes associated with the disease hepatic encephalopathy; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
breast neoplasms; hematologic neoplasms; hemochromatosis; hepatic veno-occlusive disease; mammary neoplasms Gene Set From GAD Gene-Disease Associations genes associated with the disease breast neoplasms; hematologic neoplasms; hemochromatosis; hepatic veno-occlusive disease; mammary neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
echinococcosis, hepatic Gene Set From GAD Gene-Disease Associations genes associated with the disease echinococcosis, hepatic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hepatic artery thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease hepatic artery thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
beta thalassemia; beta-thalassemia; hepatic veno-occlusive disease Gene Set From GAD Gene-Disease Associations genes associated with the disease beta thalassemia; beta-thalassemia; hepatic veno-occlusive disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hepatic Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term hepatic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
Hepatic Cirrhosis_Liver_GSE6764 Gene Set From GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Hepatic Cirrhosis_Liver_GSE6764 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
Hepatic Cirrhosis_Hepatic Tissue_GSE1843 Gene Set From GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Hepatic Cirrhosis_Hepatic Tissue_GSE1843 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
regulation of hepatic stellate cell activation Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
hepatic stellate cell activation Gene Set From GO Biological Process Annotations 2015 genes participating in the hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
hepatic duct development Gene Set From GO Biological Process Annotations 2015 genes participating in the hepatic duct development biological process from the curated GO Biological Process Annotations 2015 dataset.
hepatic immune response Gene Set From GO Biological Process Annotations 2015 genes participating in the hepatic immune response biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of hepatic stellate cell activation Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2015 dataset.
hepatic steatosis Gene Set From GWASdb SNP-Phenotype Associations genes associated with the hepatic steatosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
hepatic granulomatosis Gene Set From GWASdb SNP-Phenotype Associations genes associated with the hepatic granulomatosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
acute hepatic failure Gene Set From HPO Gene-Disease Associations genes associated with the acute hepatic failure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic amyloidosis Gene Set From HPO Gene-Disease Associations genes associated with the hepatic amyloidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
increased hepatic glycogen content Gene Set From HPO Gene-Disease Associations genes associated with the increased hepatic glycogen content phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
diffuse hepatic steatosis Gene Set From HPO Gene-Disease Associations genes associated with the diffuse hepatic steatosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic arteriovenous malformation Gene Set From HPO Gene-Disease Associations genes associated with the hepatic arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic necrosis Gene Set From HPO Gene-Disease Associations genes associated with the hepatic necrosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
congenital hepatic fibrosis Gene Set From HPO Gene-Disease Associations genes associated with the congenital hepatic fibrosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
acute hepatic steatosis Gene Set From HPO Gene-Disease Associations genes associated with the acute hepatic steatosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic encephalopathy Gene Set From HPO Gene-Disease Associations genes associated with the hepatic encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic periportal necrosis Gene Set From HPO Gene-Disease Associations genes associated with the hepatic periportal necrosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic calcification Gene Set From HPO Gene-Disease Associations genes associated with the hepatic calcification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic fibrosis Gene Set From HPO Gene-Disease Associations genes associated with the hepatic fibrosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic steatosis Gene Set From HPO Gene-Disease Associations genes associated with the hepatic steatosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
malformation of the hepatic ductal plate Gene Set From HPO Gene-Disease Associations genes associated with the malformation of the hepatic ductal plate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
elevated hepatic transaminases Gene Set From HPO Gene-Disease Associations genes associated with the elevated hepatic transaminases phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic vascular malformations Gene Set From HPO Gene-Disease Associations genes associated with the hepatic vascular malformations phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abnormality of the hepatic vasculature Gene Set From HPO Gene-Disease Associations genes associated with the abnormality of the hepatic vasculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic failure Gene Set From HPO Gene-Disease Associations genes associated with the hepatic failure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
macrovesicular hepatic steatosis Gene Set From HPO Gene-Disease Associations genes associated with the macrovesicular hepatic steatosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic cysts Gene Set From HPO Gene-Disease Associations genes associated with the hepatic cysts phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
fulminant hepatic failure Gene Set From HPO Gene-Disease Associations genes associated with the fulminant hepatic failure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic abscesses due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
chronic hepatic failure Gene Set From HPO Gene-Disease Associations genes associated with the chronic hepatic failure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
microvesicular hepatic steatosis Gene Set From HPO Gene-Disease Associations genes associated with the microvesicular hepatic steatosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Hepatic Veno-Occlusive Disease Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Hepatic Veno-Occlusive Disease phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Hepatic Encephalopathy Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Hepatic Encephalopathy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Echinococcosis, Hepatic Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Echinococcosis, Hepatic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Hepatic Vein Thrombosis Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Hepatic Vein Thrombosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Hepatic leukemia factor Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Hepatic leukemia factor protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Hepatic lectin, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Hepatic lectin, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
multifocal hepatic necrosis Gene Set From MPO Gene-Phenotype Associations gene mutations causing the multifocal hepatic necrosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
delayed hepatic development Gene Set From MPO Gene-Phenotype Associations gene mutations causing the delayed hepatic development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
hepatic necrosis Gene Set From MPO Gene-Phenotype Associations gene mutations causing the hepatic necrosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal hepatic duct morphology Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal hepatic duct morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal hepatic diverticulum morphology Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal hepatic diverticulum morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
hepatic steatosis Gene Set From MPO Gene-Phenotype Associations gene mutations causing the hepatic steatosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal hepatic portal vein morphology Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal hepatic portal vein morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
increased hepatic hemangioma incidence Gene Set From MPO Gene-Phenotype Associations gene mutations causing the increased hepatic hemangioma incidence phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal hepatic vein morphology Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal hepatic vein morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
focal hepatic necrosis Gene Set From MPO Gene-Phenotype Associations gene mutations causing the focal hepatic necrosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal hepatic cord morphology Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal hepatic cord morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
diffuse hepatic necrosis Gene Set From MPO Gene-Phenotype Associations gene mutations causing the diffuse hepatic necrosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
decreased susceptibility to hepatic steatosis Gene Set From MPO Gene-Phenotype Associations gene mutations causing the decreased susceptibility to hepatic steatosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene Set From OMIM Gene-Disease Associations genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset.
renal-hepatic-pancreatic dysplasia 1 Gene Set From OMIM Gene-Disease Associations genes associated with the renal-hepatic-pancreatic dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
hepatic venoocclusive disease with immunodeficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hepatic venoocclusive disease with immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
porphyria, acute hepatic Gene Set From OMIM Gene-Disease Associations genes associated with the porphyria, acute hepatic phenotype from the curated OMIM Gene-Disease Associations dataset.
hepatic failure, early onset, and neurologic disorder Gene Set From OMIM Gene-Disease Associations genes associated with the hepatic failure, early onset, and neurologic disorder phenotype from the curated OMIM Gene-Disease Associations dataset.
infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations Gene Set From OMIM Gene-Disease Associations genes associated with the infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations phenotype from the curated OMIM Gene-Disease Associations dataset.
hepatic adenoma, somatic Gene Set From OMIM Gene-Disease Associations genes associated with the hepatic adenoma, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.
polycystic kidney and hepatic disease Gene Set From OMIM Gene-Disease Associations genes associated with the polycystic kidney and hepatic disease phenotype from the curated OMIM Gene-Disease Associations dataset.
?renal-hepatic-pancreatic dysplasia 2 Gene Set From OMIM Gene-Disease Associations genes associated with the ?renal-hepatic-pancreatic dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
hepatic Gene Set From Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term hepatic in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.
hepatic stellate cell Gene Set From TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue hepatic stellate cell from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
hepatic cecum Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue hepatic cecum in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
hepatic primordium Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue hepatic primordium in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
hepatic stellate cell Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue hepatic stellate cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
hepatic artery Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue hepatic artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
hepatic stellate cell line Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue hepatic stellate cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
Liver-endothelial cell of hepatic sinusoid Gene Set From Tabula Sapiens Gene-Cell Associations genes with high or low expression in Liver-endothelial cell of hepatic sinusoid relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.
Hepatic Form Of Wilson Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Form Of Wilson Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Fibrosis, Congenital Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Fibrosis, Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Angiomyolipoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Angiomyolipoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Encephalopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Fibrosis And Cirrhosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Fibrosis And Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Vein Thrombosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Vein Thrombosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Moderate Hepatic Insufficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Moderate Hepatic Insufficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Minimal Hepatic Encephalopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Minimal Hepatic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Infection Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Veno-Occlusive Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Veno-Occlusive Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Amyloidosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Amyloidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Granuloma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Granuloma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Lymphoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Siderosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Siderosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Infarction Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Infarction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Calcification Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Calcification in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Cancer Metastatic Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Cancer Metastatic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Acute Hepatic Steatosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Acute Hepatic Steatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Periportal Necrosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Periportal Necrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Fulminant Hepatic Failure With Cerebral Edema Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Fulminant Hepatic Failure With Cerebral Edema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Coma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Coma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Stupor Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Stupor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Gsd Iv, Classic Hepatic Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Gsd Iv, Classic Hepatic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Osteodystrophy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Osteodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Subacute Hepatic Necrosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Subacute Hepatic Necrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Schistosomiasis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Schistosomiasis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Adenomas, Familial Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Adenomas, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Ductular Hypoplasia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Ductular Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Hepatic Encephalopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Hepatic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Renal-Hepatic-Pancreatic Dysplasia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Renal-Hepatic-Pancreatic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Hemosiderosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Hemosiderosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Accessory Hepatic Duct Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Accessory Hepatic Duct in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Cyst Infection Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Cyst Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Venoocclusive Disease With Immunodeficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Venoocclusive Disease With Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Primary Hepatic Neuroendocrine Carcinoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Primary Hepatic Neuroendocrine Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hepatic Artery Stenosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Artery Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Elevated Hepatic Transaminase Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Elevated Hepatic Transaminase in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Microvesicular Hepatic Steatosis Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Microvesicular Hepatic Steatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Diffuse Hepatic Steatosis Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Diffuse Hepatic Steatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Increased Hepatic Glycogen Content Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Increased Hepatic Glycogen Content in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Hepatic Insufficiency Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hepatic Insufficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Hepatic Necrosis Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hepatic Necrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Hepatic Impairment Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hepatic Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Elevated Hepatic Iron Concentration Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Elevated Hepatic Iron Concentration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Abnormality Of The Hepatic Vasculature Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of The Hepatic Vasculature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Macrovesicular Hepatic Steatosis Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Macrovesicular Hepatic Steatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Hepatic Sclerosis Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hepatic Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Elevated Alkaline Phosphatase Of Hepatic Origin Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Elevated Alkaline Phosphatase Of Hepatic Origin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Malformation Of The Hepatic Ductal Plate Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Malformation Of The Hepatic Ductal Plate in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Hepatic Vascular Malformations Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hepatic Vascular Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Massive Hepatic Necrosis Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Massive Hepatic Necrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Hepatic Glycogen Storage Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hepatic Glycogen Storage in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Hepatic Hypertrophy Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hepatic Hypertrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
hepatic immune response Gene Set From GO Biological Process Annotations 2023 genes participating in the hepatic immune response biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of hepatic stellate cell activation Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of hepatic stellate cell activation Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2023 dataset.
increased hepatic hemangioma incidence Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased hepatic hemangioma incidence phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
hepatic steatosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the hepatic steatosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
multifocal hepatic necrosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the multifocal hepatic necrosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
hepatic necrosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the hepatic necrosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
macrovesicular hepatic steatosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the macrovesicular hepatic steatosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
microvesicular hepatic steatosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the microvesicular hepatic steatosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
delayed hepatic development Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the delayed hepatic development phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
focal hepatic necrosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the focal hepatic necrosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased susceptibility to diet-induced hepatic steatosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased susceptibility to diet-induced hepatic steatosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
diffuse hepatic necrosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the diffuse hepatic necrosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased susceptibility to age-related hepatic steatosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased susceptibility to age-related hepatic steatosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal hepatic vein morphology Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hepatic vein morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal hepatic cord morphology Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hepatic cord morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased susceptibility to hepatic steatosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased susceptibility to hepatic steatosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal hepatic portal vein morphology Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hepatic portal vein morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased susceptibility to diet-induced hepatic steatosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased susceptibility to diet-induced hepatic steatosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal hepatic diverticulum morphology Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hepatic diverticulum morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased susceptibility to alcohol-induced hepatic steatosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased susceptibility to alcohol-induced hepatic steatosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal hepatic glucose production Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hepatic glucose production phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased hepatic glucose production Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased hepatic glucose production phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal hepatic duct morphology Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hepatic duct morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased hepatic glucose production Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased hepatic glucose production phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
hepatic portal vein stenosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the hepatic portal vein stenosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal hepatic portal vein formation Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hepatic portal vein formation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
dilated hepatic portal vein Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the dilated hepatic portal vein phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal hepatic portal vein connection Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hepatic portal vein connection phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal hepatic vein connection Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hepatic vein connection phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal hepatic portal vein thrombosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal hepatic portal vein thrombosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased susceptibility to hepatic steatosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased susceptibility to hepatic steatosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased susceptibility to age-related hepatic steatosis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased susceptibility to age-related hepatic steatosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Ito cell (hepatic stellate cell)_Liver_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Ito cell (hepatic stellate cell)_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Ito cell (hepatic stellate cell)_Liver_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Ito cell (hepatic stellate cell)_Liver_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Liver bud hepatic cell_Liver_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Liver bud hepatic cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Hepatic stellate cell_Liver_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Hepatic stellate cell_Liver_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Putative hepatic stem cell_Left lobe_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Putative hepatic stem cell_Left lobe_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Hepatic stellate cell_Fetal liver_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Hepatic stellate cell_Fetal liver_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Hepatic stellate cell_Fetal liver_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Hepatic stellate cell_Fetal liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Hepatic cell_Liver_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Hepatic cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Hepatic progenitor cell_Liver_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Hepatic progenitor cell_Liver_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
Hepatic progenitor cell_Liver_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Hepatic progenitor cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Hepatic stellate cell_Liver_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Hepatic stellate cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Activated hepatic stellate cell_Liver_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Activated hepatic stellate cell_Liver_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Hepatic progenitor-like cell_Pluripotent stem cell_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Hepatic progenitor-like cell_Pluripotent stem cell_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Hepatic stellate cell_Undefined_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the Hepatic stellate cell_Undefined_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Set From Reactome Pathways 2024 proteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset.
Liver_CT1_quiescent hepatic stellate cell Gene Set From HuBMAP ASCT+B Annotations biomarker genes for the Liver_CT1_quiescent hepatic stellate cell cell type from the HuBMAP ASCT+B dataset.
Liver_CT1_quiescent hepatic stellate cell Gene Set From HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Liver_CT1_quiescent hepatic stellate cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.
hepatic immune response Gene Set From GO Biological Process Annotations 2025 genes participating in the hepatic immune response biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of hepatic stellate cell activation Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of hepatic stellate cell activation Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of hepatic stellate cell activation biological process from the curated GO Biological Process Annotations 2025 dataset.
Hepatic venoocclusive disease with immunodeficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hepatic venoocclusive disease with immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Hepatic vascular disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hepatic vascular disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hepatic encephalopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hepatic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hepatic coma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hepatic coma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hepatic veno-occlusive disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hepatic veno-occlusive disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hepatic tuberculosis Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hepatic tuberculosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Familial hepatic adenoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial hepatic adenoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hepatic venoocclusive disease with immunodeficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hepatic venoocclusive disease with immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hepatic infarction Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hepatic infarction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
renal-hepatic-pancreatic dysplasia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease renal-hepatic-pancreatic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hepatic angiomyolipoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hepatic angiomyolipoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Sclerosing hepatic carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Sclerosing hepatic carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hepatic flexure cancer Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hepatic flexure cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hepatic stellate cell Gene Set From TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Hepatic stellate cell from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
Hepatic stellate cell Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Hepatic stellate cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Hepatic artery Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Hepatic artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Hepatic stellate cell line Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Hepatic stellate cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Hepatic cecum Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Hepatic cecum in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Hepatic primordium Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Hepatic primordium in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Renal-hepatic-pancreatic dysplasia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Renal-hepatic-pancreatic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hepatic veno-occlusive disease-immunodeficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hepatic veno-occlusive disease-immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hepatic adenomas Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hepatic adenomas phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hepatic cysts Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hepatic cysts phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Increased hepatic glycogen content Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Increased hepatic glycogen content phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Liver fibrosis (total hepatic collagen content) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Liver fibrosis (total hepatic collagen content) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Hepatic lipid content in extreme obesity Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hepatic lipid content in extreme obesity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Neuraminidase deficiency with beta-galactosidase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From Reactome Pathways 2014 proteins 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 Set From Reactome Pathways 2014 proteins 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 Set From Reactome Pathways 2014 proteins 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 Set From Reactome Pathways 2024 proteins 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 Set From 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.
Trifunctional protein deficiency with myopathy and neuropathy Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sepiapterin reductase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glucocorticoid deficiency 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glucocorticoid deficiency 4 Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Phosphoserine aminotransferase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
5-Oxoprolinase deficiency Gene Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Proopiomelanocortin deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pituitary hormone deficiency, combined Gene Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
21-hydroxylase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
C1q deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Interferon gamma receptor deficiency Gene Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adenylosuccinate lyase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Triosephosphate isomerase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gaucher disease, atypical, due to saposin C deficiency Gene Set From 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.
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary factor II deficiency disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial complex III deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
ACTH deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
PROPERDIN DEFICIENCY, TYPE III Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inosine triphosphatase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Factor X deficiency Gene Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary factor IX deficiency disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alpha-fetoprotein deficiency Gene Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glycosylphosphatidylinositol deficiency Gene Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Caspase-8 deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Enterokinase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial phosphate carrier deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary factor XI deficiency disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Porphobilinogen synthase deficiency Gene Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leukocyte adhesion deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dihydropyrimidinase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dimethylglycine dehydrogenase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cd59 deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ornithine aminotransferase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dopamine beta hydroxylase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gluthathione synthetase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Fumarase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deficiency of transaldolase Gene Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Argininosuccinate lyase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Prekallikrein deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chitotriosidase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Complement 1s deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dihydropteridine reductase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cd8 deficiency, familial Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary factor VIII deficiency disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Proline dehydrogenase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Factor H deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glutamine deficiency, congenital Gene Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sucrase-isomaltase deficiency Gene Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Asparagine synthetase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deficiency of beta-ureidopropionase Gene Set From 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 Set From ClinVar Gene-Phenotype Associations genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
MYD88 Deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease Prekallikrein Deficiency from the curated CTD Gene-Disease Associations dataset.
Methylenetetrahydrofolate reductase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.
Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.
Tyrosine Kinase 2 Deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease IgA Deficiency from the curated CTD Gene-Disease Associations dataset.
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset.
Congenital thrombotic disease, due to Protein C deficiency Gene Set From 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.
Enterokinase Deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset.
Transaldolase Deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset.
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset.
18-Hydroxylase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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.
Ornithine Carbamoyltransferase Deficiency Disease Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.
Protein Deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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.
Pyruvate Dehydrogenase Complex Deficiency Disease Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset.
Ataxia with vitamin E deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease Trehalase Deficiency from the curated CTD Gene-Disease Associations dataset.
Guanidinoacetate methyltransferase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease Glycine N-Methyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.
Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set From 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.
Magnesium Deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set From 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.
GLUT1 DEFICIENCY SYNDROME 2 Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset.
Prolidase Deficiency Gene Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dihydropyrimidinase Deficiency from the curated CTD Gene-Disease Associations dataset.
Deficiency Diseases Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deficiency Diseases from the curated CTD Gene-Disease Associations dataset.
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset.
Myeloperoxidase Deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.
Multiple Sulfatase Deficiency Disease Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Multiple Sulfatase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.
Lysosomal beta-mannosidase deficiency Gene Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease IRAK4 Deficiency from the curated CTD Gene-Disease Associations dataset.
Butyrylcholinesterase deficiency Gene Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease Gamma aminobutyric acid transaminase deficiency from the curated CTD Gene-Disease Associations dataset.
Pyruvate Carboxylase Deficiency Disease Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Carboxylase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.
Complement Component 6 Deficiency Gene Set From 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 Set From 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 Set From CTD Gene-Disease Associations genes/proteins associated with the disease Factor XII Deficiency from the curated CTD Gene-Disease Associations dataset.
Aromatase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aromatase deficiency from the curated CTD Gene-Disease Associations dataset.
Urocanase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Urocanase deficiency from the curated CTD Gene-Disease Associations dataset.
Phosphoserine Aminotransferase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoserine Aminotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.
Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset.
Immunoglobulin a deficiency 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunoglobulin a deficiency 2 from the curated CTD Gene-Disease Associations dataset.
Immunoglobulin a deficiency 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunoglobulin a deficiency 1 from the curated CTD Gene-Disease Associations dataset.
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.
Glucosephosphate Dehydrogenase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Glucosephosphate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.
Mitochondrial complex I deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial complex I deficiency from the curated CTD Gene-Disease Associations dataset.
Follicle-stimulating hormone deficiency, isolated Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Follicle-stimulating hormone deficiency, isolated from the curated CTD Gene-Disease Associations dataset.
Split-hand/foot malformation with long bone deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset.
Immunologic Deficiency Syndromes Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunologic Deficiency Syndromes from the curated CTD Gene-Disease Associations dataset.
protein s deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease protein s deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
systemic primary carnitine deficiency disease Gene Set From 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.
purine nucleoside phosphorylase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
alpha 1-antitrypsin deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease alpha 1-antitrypsin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
holocarboxylase synthetase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease holocarboxylase synthetase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
gamma chain deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease gamma chain deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
pyruvate decarboxylase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease pyruvate decarboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
serine deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease serine deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
cerebral creatine deficiency syndrome Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cerebral creatine deficiency syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
complement deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease complement deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
agat deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease agat deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
prothrombin deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease prothrombin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
complement factor i deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease complement factor i deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
glucosephosphate dehydrogenase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease glucosephosphate dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
protein c deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease protein c deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
dihydropyrimidine dehydrogenase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease dihydropyrimidine dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
biotinidase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease biotinidase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
beta-ketothiolase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease beta-ketothiolase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
ornithine carbamoyltransferase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ornithine carbamoyltransferase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
factor v deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease factor v deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
ornithine translocase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ornithine translocase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
cd40 ligand deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cd40 ligand deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
b cell deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease b cell deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
3-methylcrotonyl-coa carboxylase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease 3-methylcrotonyl-coa carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
phgdh deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease phgdh deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
succinic semialdehyde dehydrogenase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease succinic semialdehyde dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
adenosine deaminase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease adenosine deaminase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
antithrombin iii deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease antithrombin iii deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
cytochrome-c oxidase deficiency disease Gene Set From 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.
multiple carboxylase deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease multiple carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
iron deficiency anemia Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease iron deficiency anemia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
nutritional deficiency disease Gene Set From 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 Set From 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.
mhc class ii deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mhc class ii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
t lymphocyte deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease t lymphocyte deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
leukocyte-adhesion deficiency syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease leukocyte-adhesion deficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
complement deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease complement deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
urethral intrinsic sphincter deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease urethral intrinsic sphincter deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
congenital intrinsic factor deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital intrinsic factor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
folic acid deficiency anemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease folic acid deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
fructose-1,6-bisphosphatase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fructose-1,6-bisphosphatase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
coenzyme q10 deficiency disease Gene Set From 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.
pyruvate decarboxylase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pyruvate decarboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
psat deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease psat deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
carbamoyl phosphate synthetase i deficiency disease Gene Set From 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.
leukocyte adhesion deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease leukocyte adhesion deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
adenosine deaminase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease adenosine deaminase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
antithrombin iii deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease antithrombin iii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
factor xiii deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor xiii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
b cell linker protein deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease b cell linker protein deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
deficiency anemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
cd3delta deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd3delta deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
iron deficiency anemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease iron deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
protein s deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease protein s deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
gamma chain deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease gamma chain deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
immunoglobulin alpha deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease immunoglobulin alpha deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
intestinal disaccharidase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease intestinal disaccharidase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
artemis deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease artemis deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
cd40 deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd40 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
agat deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease agat deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
dna ligase iv deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease dna ligase iv deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
cd45 deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd45 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
factor viii deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor viii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
cd3zeta deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd3zeta deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
factor vii deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor vii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
selective igg deficiency disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease selective igg deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
factor xii deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor xii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
cd40 ligand deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd40 ligand deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
serine deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease serine deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
interleukin-7 receptor alpha deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease interleukin-7 receptor alpha deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
cd3gamma deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd3gamma deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
vitamin b12 deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease vitamin b12 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
multiple carboxylase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease multiple carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
nutritional deficiency disease Gene Set From 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.
cerebral creatine deficiency syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cerebral creatine deficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
factor xi deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor xi deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
coronin-1a deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease coronin-1a deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
3-methylcrotonyl-coa carboxylase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease 3-methylcrotonyl-coa carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
factor x deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor x deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
systemic primary carnitine deficiency disease Gene Set From 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.
purine nucleoside phosphorylase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease purine nucleoside phosphorylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Harmonizome 3.0

Hepatic lipase deficiency Gene Set

hepatic lipase deficiency Gene Set

Hepatic Lipase Deficiency (Disorder) Gene Set

Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene Set

lower levels of hepatic lipase activity buoyant ldl and higher hdl2 cholesterol Gene Set

low hepatic lipase activity Gene Set

diabetes, type 2; hepatic lipase activity Gene Set

Hepatic lipase Gene Set

Lipase deficiency combined Gene Set

Lysosomal acid lipase deficiency Gene Set

Lipase deficiency combined Gene Set

Lysosomal acid lipase deficiency Gene Set

familial lipoprotein lipase deficiency Gene Set

familial lipoprotein lipase deficiency Gene Set

acid lipase deficiency and cholesterol ester storage disease Gene Set

pancreatic lipase deficiency Gene Set

lipoprotein lipase deficiency Gene Set

lipase deficiency, combined Gene Set

Deficiency Of Triacylglycerol Lipase Gene Set

Lipase Deficiency Combined Gene Set

Pancreatic Lipase Deficiency Gene Set

Pancreatic Triacylglycerol Lipase Deficiency Gene Set

Familial lipoprotein lipase deficiency Gene Set

Lysosomal acid lipase deficiency Gene Set

Lysosomal acid lipase deficiency Gene Set

Familial lipoprotein lipase deficiency Gene Set

Familial lipase maturation factor 1 deficiency Gene Set

Lysosomal acid lipase deficiency Gene Set

Lipase deficiency Gene Set

Pancreatic triacylglycerol lipase deficiency Gene Set

cpt deficiency, hepatic, type ii Gene Set

cpt deficiency, hepatic, type ia Gene Set

Hepatic Methionine Adenosyltransferase Deficiency Gene Set

Hepatic methionine adenosyltransferase deficiency Gene Set

Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene Set

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

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 Set

postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set

adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set

lower lipoprotein lipase activity Gene Set

lipase Gene Set

negative regulation of lipase activity Gene Set

positive regulation of lipoprotein lipase activity Gene Set

positive regulation of triglyceride lipase activity Gene Set

negative regulation of lipoprotein lipase activity Gene Set

regulation of lipoprotein lipase activity Gene Set

regulation of lipase activity Gene Set

positive regulation of lipase activity Gene Set

lipase binding Gene Set

hormone-sensitive lipase activity Gene Set

triglyceride lipase activity Gene Set

lipoprotein lipase activator activity Gene Set

acylglycerol lipase activity Gene Set

lipase inhibitor activity Gene Set

lipase activity Gene Set

lipoprotein lipase activity Gene Set

lipase activator activity Gene Set

Triacylglycerol lipase family Gene Set

Lipase/lipooxygenase, PLAT/LH2 Gene Set

Fungal lipase-like domain Gene Set

Lipase maturation factor Gene Set

Pancreatic lipase Gene Set

Hormone-sensitive lipase, N-terminal Gene Set

Lipoprotein lipase Gene Set

Monoacylglycerol lipase protein ABHD12 Gene Set

Lipase, GDSL, active site Gene Set

Lipase, LIPH-type Gene Set

Lipase, GDXG, active site Gene Set

Lipase, N-terminal Gene Set

Partial AB-hydrolase lipase domain Gene Set

GDSL lipase/esterase Gene Set

Domain of unknown function DUF676, lipase-like Gene Set

Lipase, eukaryotic Gene Set

abnormal hormone-sensitive lipase activity Gene Set

increased lipoprotein lipase activity Gene Set

decreased lipoprotein lipase activity Gene Set

abnormal triglyceride lipase activity Gene Set

decreased triglyceride lipase activity Gene Set