Harmonizome 3.0

From OMIM Gene-Disease Associations

genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease avitaminosis; carcinoma, hepatocellular; fatty liver; hepatitis, chronic; hyperhomocysteinemia; lcc - liver cell carcinoma; liver cirrhosis; liver diseases; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cholangitis, sclerosing; fatty liver; hepatitis b, chronic; hepatitis c, chronic; hepatitis, autoimmune; hepatitis, chronic; liver cirrhosis, alcoholic; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b, chronic; hepatitis c, chronic; liver cirrhosis; liver cirrhosis, alcoholic; liver failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver failure; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; fatty liver; iron overload; liver cirrhosis; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; liver cirrhosis; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; liver cirrhosis; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the phosphorylase kinase deficiency of liver and muscle, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; fatty liver; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; alcoholism; liver cirrhosis, alcoholic; liver diseases, alcoholic; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms; siderosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease arthralgia; carcinoma, hepatocellular; hemochromatosis; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; liver carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; fibrosis; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; liver carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; hepatitis c, chronic; liver carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; biliary cirrhosis; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease biliary cirrhosis; cholangitis, sclerosing; cystic fibrosis; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease biliary cirrhosis; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease biliary cirrhosis; liver cirrhosis, biliary; osteoporosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease biliary cirrhosis; hepatitis, autoimmune; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; carcinoma, hepatocellular; lcc - liver cell carcinoma; liver diseases, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Deficiency Of Phosphorylase Kinase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen phosphorylase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From GO Molecular Function Annotations 2015

genes performing the map kinase kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From GO Molecular Function Annotations 2023

genes performing the MAP kinase kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2025

genes performing the MAP kinase kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From OMIM Gene-Disease Associations

genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; hepatitis c, chronic; hyperhomocysteinemia; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; hemochromatosis; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; hypertension, portal; liver cirrhosis; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; liver cirrhosis; liver failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; diabetes mellitus; heart failure; hemochromatosis; lcc - liver cell carcinoma; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; liver cirrhosis; obesity, morbid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; insulin resistance; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; liver cirrhosis; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, alcoholic; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis; liver neoplasms; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; alcoholism; liver diseases; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the phosphorylase kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

From GO Cellular Component Annotations 2015

proteins localized to the phosphorylase kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the phosphorylase kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the phosphorylase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphorylase kinase alpha/beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphorylase kinase, gamma catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From GO Molecular Function Annotations 2023

genes performing the phosphorylase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the phosphorylase kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2025

genes performing the phosphorylase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the phosphorylase kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Phosphorylase kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

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

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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.

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.

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypermethioninemia Due To Adenosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Purine Nucleoside Phosphorylase Deficiency from the curated CTD Gene-Disease Associations dataset.

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.

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.

From DisGeNET Gene-Disease Associations

genes associated with the disease Purine-Nucleoside Phosphorylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

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

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 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

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.

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; carcinoma, hepatocellular; hemophilia a; hemophilia b; hepatitis c; lcc - liver cell carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GO Molecular Function Annotations 2015

genes performing the mitogen-activated protein kinase kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the map kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the jun kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase, MLK1/MLK2/MLK4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein kinase kinase kinase 13 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein kinase kinase kinase 12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 14 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein kinase kinase kinase 12/13 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From PANTHER Pathways

proteins participating in the Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade pathway from the PANTHER Pathways dataset.

From GO Molecular Function Annotations 2023

genes performing the mitogen-activated protein kinase kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the MAP kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the JUN kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2025

genes performing the mitogen-activated protein kinase kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the MAP kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the JUN kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Liver Cirrhosis from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Liver Cirrhosis, Alcoholic from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Liver Cirrhosis, Experimental from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Liver Cirrhosis, Biliary from the curated CTD Gene-Disease Associations dataset.

From dbGAP Gene-Trait Associations

genes associated with the trait Liver Cirrhosis, Biliary in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease liver cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease alcoholic liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From GAD Gene-Disease Associations

genes associated with the disease helicobacter infections; liver cirrhosis; peptic ulcer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease ascites; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, alcoholic; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b; hepatitis b, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, biliary primary; liver disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatopulmonary syndrome; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; hiv infections; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, biliary; pruritus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease arthritis, rheumatoid; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis; liver cancer; hepatitis c, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alcohol-induced disorders; esophageal neoplasms; liver cirrhosis, alcoholic; oesophageal neoplasm; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis, alcoholic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b, chronic; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease esophageal and gastric varices; gastrointestinal hemorrhage; liver cirrhosis; postoperative complications; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; liver cirrhosis, alcoholic; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease liver disease, chronic and cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; bone necrosis; liver cirrhosis; osteonecrosis; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, alcoholic; liver cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b; cirrhosis; liver cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hypertriglyceridemia; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis; liver cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, alcoholic; pancreatitis, alcoholic; pancreatitis, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; liver cirrhosis; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease bacterial infections; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b; hepatitis, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, alcoholic; esophageal cancer; head and neck cancer; liver cancer; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cholangitis, sclerosing; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; liver cirrhosis; recurrence; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, alcoholic; liver disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis; schistosomiasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; liver cirrhosis; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; liver cirrhosis; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; hepatitis c, chronic; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease bacterial infections; liver cirrhosis; peritonitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hypertension, portal; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease disease models, animal; hemochromatosis; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis, autoimmune; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; diabetic angiopathies; diabetic neuropathies; diabetic retinopathy; glucose intolerance; hemochromatosis; liver cirrhosis; proteinuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; hyperhomocysteinemia; liver cirrhosis, alcoholic; protein-energy malnutrition in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease heart diseases; hemochromatosis; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Hepatitis C induced liver cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From GWASdb SNP-Disease Associations

genes associated with the disease liver cirrhosis in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Liver Cirrhosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Liver Cirrhosis, Alcoholic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Liver Cirrhosis, Biliary phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the liver cirrhosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Liver Cirrhosis, Experimental in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Liver Cirrhosis, Alcoholic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

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

From MGI Mouse Phenotype Associations 2023

gene mutations causing the liver cirrhosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Liver cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Alcoholic liver cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

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

genes co-occuring with the disease Liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

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

genes co-occuring with the disease Alcoholic liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hepatitis C induced liver cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Alcohol dependence or chronic alcoholic pancreatitis or alcohol-related liver cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset.

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.

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.

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.

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.

From OMIM Gene-Disease Associations

genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From GeneRIF Biological Term Annotations

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

From GO Molecular Function Annotations 2015

genes performing the glycogen phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the purine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the s-methyl-5-thioadenosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the uridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the pyrimidine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the gdp-d-glucose phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the thymidine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyrimidine-nucleoside phosphorylase, bacterial/eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Purine nucleoside phosphorylase I, inosine/guanosine-specific protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the PNP/MTAP phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Purine nucleoside phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thymidine/pyrimidine-nucleoside phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Uridine phosphorylase, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methylthioadenosine phosphorylase (MTAP) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyrimidine-nucleoside phosphorylase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nucleoside phosphorylase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GDP-L-galactose/GDP-D-glucose phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Purine phosphorylase, family 2, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycogen/starch/alpha-glucan phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nucleoside phosphorylase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nucleoside phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyrimidine nucleoside phosphorylase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the decreased purine-nucleoside phosphorylase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal purine-nucleoside phosphorylase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From GO Molecular Function Annotations 2023

genes performing the uridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the deoxyuridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the purine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the glycogen phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the thymidine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the 1,4-alpha-oligoglucan phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the GDP-D-glucose phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the S-methyl-5-thioadenosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the guanosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the [phosphorylase] phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased purine-nucleoside phosphorylase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From GO Molecular Function Annotations 2025

genes performing the uridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the deoxyuridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the purine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the glycogen phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the thymidine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the 1,4-alpha-oligoglucan phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the GDP-D-glucose phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the S-methyl-5-thioadenosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the guanosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the [phosphorylase] phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the pyrimidine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

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.

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.

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.

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.

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.

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.

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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.

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.

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.

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.

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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.

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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.

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.

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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.

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.

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.

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.

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.

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

From OMIM Gene-Disease Associations

genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

From Reactome Pathways 2014

proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Scid Due To Ada Deficiency, Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Krabbe Disease, Atypical, Due To Saposin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Anemia Due To Hexokinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Immunodeficiency Syndrome Due To P14 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Metachromatic Leukodystrophy Due To Saposin B Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Extraoral Halitosis Due To Methanethiol Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteomalacia Due To Vitamin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

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

genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

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

genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

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

genes co-occuring with the disease Thrombophilia due to HRG deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

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

genes co-occuring with the disease Autosomal recessive thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

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

genes co-occuring with the disease Autosomal dominant thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

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

genes co-occuring with the disease Autosomal dominant thrombophilia due to protein S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive ataxia due to ubiquinone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

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

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to ficolin3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neonatal intrahepatic cholestasis due to citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to growth hormone secretagogue receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Interstitial lung disease due to ABCA3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to leptin receptor gene deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ehlers-Danlos syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Leigh syndrome due to mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to glucophosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to HNF1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

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.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Encephalopathy due to GLUT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to glucokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to muscle beta-enolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Epidermolysis bullosa simplex due to plakophilin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to integrin alpha-7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Limb-girdle muscular dystrophy due to POMK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic primordial dwarfism due to RTTN deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ketoacidosis due to monocarboxylate transporter-1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic primordial dwarfism due to ZNF335 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pyogenic bacterial infections due to MyD88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to CD25 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to MASP-2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

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.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025