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pyruvate decarboxylase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease pyruvate decarboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
pyruvate decarboxylase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pyruvate decarboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
Pyruvate decarboxylase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Pyruvate decarboxylase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Pyruvate decarboxylase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pyruvate decarboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Serine-pyruvate aminotransferase/2-aminoethylphosphonate-pyruvate transaminase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Serine-pyruvate aminotransferase/2-aminoethylphosphonate-pyruvate transaminase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Deficiency of malonyl-CoA decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of aromatic-L-amino-acid decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aromatic amino acid decarboxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
aromatic l-amino acid decarboxylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the aromatic l-amino acid decarboxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
malonyl-coa decarboxylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the malonyl-coa decarboxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Aromatic Amino Acid Decarboxylase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Aromatic Amino Acid Decarboxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Aromatic-L-Amino-Acid Decarboxylase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Glutamate Decarboxylase Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Glutamate Decarboxylase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Uroporphyrinogen Decarboxylase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Uroporphyrinogen Decarboxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Aromatic L-amino acid decarboxylase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Aromatic L-amino acid decarboxylase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Aromatic L-amino acid decarboxylase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Aromatic L-amino acid decarboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Deficiency of malonyl-CoA decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Deficiency of aromatic-L-amino-acid decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyruvate dehydrogenase E2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E3-binding protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-alpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate carboxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial pyruvate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-beta deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase E2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase Complex Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Kinase Deficiency of Red Cells Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Carboxylase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Carboxylase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
pyruvate dehydrogenase lipoic acid synthetase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyruvate dehydrogenase e1-beta deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyruvate dehydrogenase e1-beta deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyruvate dehydrogenase phosphatase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyruvate dehydrogenase phosphatase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyruvate carboxylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyruvate carboxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyruvate dehydrogenase e1-alpha deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyruvate dehydrogenase e1-alpha deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial pyruvate carrier deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial pyruvate carrier deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyruvate kinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyruvate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyruvate dehydrogenase e2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyruvate dehydrogenase e2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase Complex Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pyruvate Carboxylase Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pyruvate Carboxylase Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Pyruvate Kinase Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Pyruvate Kinase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Pyruvate Carrier Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Pyruvate Carrier Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase Phosphatase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pyruvate Dehydrogenase Phosphatase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
TCA cycle and deficiency of pyruvate dehydrogenase complex PDHc Gene SetFrom WikiPathways Pathways 2024 proteins participating in the TCA cycle and deficiency of pyruvate dehydrogenase complex PDHc pathway from the WikiPathways Pathways 2024 dataset. |
Pyruvate carboxylase deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Pyruvate carboxylase deficiency disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Pyruvate kinase deficiency of red cells Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Pyruvate kinase deficiency of red cells from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Mitochondrial pyruvate carrier deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial pyruvate carrier deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Pyruvate kinase deficiency of red cells Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pyruvate kinase deficiency of red cells in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Pyruvate kinase deficiency of red cells Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate kinase deficiency of red cells phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyruvate carboxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyruvate dehydrogenase E3-binding protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyruvate dehydrogenase E1-alpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyruvate dehydrogenase complex deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate dehydrogenase complex deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyruvate dehydrogenase E3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate dehydrogenase E3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyruvate dehydrogenase E2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyruvate dehydrogenase E1-beta deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glutamate pyruvate transaminase 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glutamate pyruvate transaminase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glutamic acid decarboxylase antibodies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glutamic acid decarboxylase antibodies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
decarboxylase Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term decarboxylase in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
regulation of l-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of l-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of l-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of l-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
ornithine decarboxylase inhibitor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ornithine decarboxylase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-dopa decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-dopa decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
udp-glucuronate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the udp-glucuronate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
methylmalonyl-coa decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the methylmalonyl-coa decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ornithine decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ornithine decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
diphosphomevalonate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the diphosphomevalonate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
aminocarboxymuconate-semialdehyde decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the aminocarboxymuconate-semialdehyde decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
orotidine-5'-phosphate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the orotidine-5'-phosphate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
oxaloacetate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the oxaloacetate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
malonyl-coa decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the malonyl-coa decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
adenosylmethionine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the adenosylmethionine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
d-dopachrome decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the d-dopachrome decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
aconitate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the aconitate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
uroporphyrinogen decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the uroporphyrinogen decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ornithine decarboxylase regulator activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ornithine decarboxylase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
aromatic-l-amino-acid decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the aromatic-l-amino-acid decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
sulfinoalanine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the sulfinoalanine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ornithine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ornithine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
phosphatidylserine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the phosphatidylserine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-dopa decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-dopa decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
histidine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the histidine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
aspartate 1-decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the aspartate 1-decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
phosphopantothenoylcysteine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the phosphopantothenoylcysteine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
reduced orotidine 5-prime phosphate decarboxylase activity Gene SetFrom HPO Gene-Disease Associations genes associated with the reduced orotidine 5-prime phosphate decarboxylase activity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
S-adenosylmethionine decarboxylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the S-adenosylmethionine decarboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Orn/DAP/Arg decarboxylase 2, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Orn/DAP/Arg decarboxylase 2, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Orotidine 5'-phosphate decarboxylase domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Orotidine 5'-phosphate decarboxylase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Malonyl-CoA decarboxylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Malonyl-CoA decarboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Uroporphyrinogen decarboxylase (URO-D) Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Uroporphyrinogen decarboxylase (URO-D) protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Uroporphyrinogen decarboxylase HemE Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Uroporphyrinogen decarboxylase HemE protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
S-adenosylmethionine decarboxylase subgroup Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the S-adenosylmethionine decarboxylase subgroup protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyridoxal phosphate-dependent decarboxylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyridoxal phosphate-dependent decarboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Aromatic-L-amino-acid decarboxylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Aromatic-L-amino-acid decarboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Orotidine 5'-phosphate decarboxylase, active site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Orotidine 5'-phosphate decarboxylase, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Orn/DAP/Arg decarboxylase 2, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Orn/DAP/Arg decarboxylase 2, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ornithine/DAP/Arg decarboxylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ornithine/DAP/Arg decarboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Orn/DAP/Arg decarboxylase 2, pyridoxal-phosphate binding site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Orn/DAP/Arg decarboxylase 2, pyridoxal-phosphate binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ornithine decarboxylase antizyme Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ornithine decarboxylase antizyme protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase, type 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase, type 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Phosphatidylserine decarboxylase-related Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphatidylserine decarboxylase-related protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Diphosphomevalonate decarboxylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Diphosphomevalonate decarboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Orn/DAP/Arg decarboxylase 2, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Orn/DAP/Arg decarboxylase 2, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
UDP-glucuronate decarboxylase N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the UDP-glucuronate decarboxylase N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ornithine decarboxylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ornithine decarboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alanine racemase/group IV decarboxylase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alanine racemase/group IV decarboxylase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
S-adenosylmethionine decarboxylase, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the S-adenosylmethionine decarboxylase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Orotidine 5'-phosphate decarboxylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Orotidine 5'-phosphate decarboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Diphosphomevalonate/phosphomevalonate decarboxylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Diphosphomevalonate/phosphomevalonate decarboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
S-adenosylmethionine decarboxylase, core Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the S-adenosylmethionine decarboxylase, core protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Aspartate decarboxylase-like domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Aspartate decarboxylase-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ornithine decarboxylase antizyme 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ornithine decarboxylase antizyme 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ornithine decarboxylase antizyme 3 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ornithine decarboxylase antizyme 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ornithine decarboxylase antizyme 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ornithine decarboxylase antizyme 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Regulation of ornithine decarboxylase (ODC) Gene Setproteins participating in the Regulation of ornithine decarboxylase (ODC) pathway from the Reactome Pathways dataset. |
Anti-Glutamic Acid Decarboxylase Antibody Positivity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Anti-Glutamic Acid Decarboxylase Antibody Positivity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Reduced Orotidine 5-Prime Phosphate Decarboxylase Activity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Reduced Orotidine 5-Prime Phosphate Decarboxylase Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
positive regulation of L-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of L-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of L-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of L-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
aconitate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the aconitate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ornithine decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ornithine decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ornithine decarboxylase inhibitor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ornithine decarboxylase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
malonyl-CoA decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the malonyl-CoA decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
uroporphyrinogen decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the uroporphyrinogen decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
orotidine-5'-phosphate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the orotidine-5'-phosphate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ornithine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ornithine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
adenosylmethionine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the adenosylmethionine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
histidine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the histidine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
aromatic-L-amino-acid decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the aromatic-L-amino-acid decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
5-hydroxy-L-tryptophan decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 5-hydroxy-L-tryptophan decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-dopa decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-dopa decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
D-dopachrome decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the D-dopachrome decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
oxaloacetate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the oxaloacetate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
diphosphomevalonate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the diphosphomevalonate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
UDP-glucuronate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the UDP-glucuronate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
aminocarboxymuconate-semialdehyde decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the aminocarboxymuconate-semialdehyde decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
arginine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the arginine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
phosphopantothenoylcysteine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the phosphopantothenoylcysteine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-dopa decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-dopa decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
phosphatidylserine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the phosphatidylserine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
sulfinoalanine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the sulfinoalanine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
decreased glutamate decarboxylase activity Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased glutamate decarboxylase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Regulation of ornithine decarboxylase (ODC) Gene Setproteins participating in the Regulation of ornithine decarboxylase (ODC) pathway from the Reactome Pathways 2024 dataset. |
aconitate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the aconitate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ornithine decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ornithine decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ornithine decarboxylase inhibitor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ornithine decarboxylase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
malonyl-CoA decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the malonyl-CoA decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
uroporphyrinogen decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the uroporphyrinogen decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
orotidine-5'-phosphate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the orotidine-5'-phosphate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ornithine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ornithine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
adenosylmethionine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the adenosylmethionine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
histidine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the histidine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
aromatic-L-amino-acid decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the aromatic-L-amino-acid decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
5-hydroxy-L-tryptophan decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 5-hydroxy-L-tryptophan decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-dopa decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-dopa decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
D-dopachrome decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the D-dopachrome decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
oxaloacetate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the oxaloacetate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
diphosphomevalonate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the diphosphomevalonate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
3-beta-hydroxysteroid dehydrogenase [NAD(P)+]/C4-decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 3-beta-hydroxysteroid dehydrogenase [NAD(P)+]/C4-decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
UDP-glucuronate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the UDP-glucuronate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
aminocarboxymuconate-semialdehyde decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the aminocarboxymuconate-semialdehyde decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
arginine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the arginine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
phosphopantothenoylcysteine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the phosphopantothenoylcysteine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-dopa decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-dopa decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
phosphatidylserine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the phosphatidylserine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
sulfinoalanine decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the sulfinoalanine decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Phosphopantothenoylcysteine decarboxylase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Phosphopantothenoylcysteine decarboxylase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Glutamate decarboxylase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Glutamate decarboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Phosphopantothenoylcysteine decarboxylase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Phosphopantothenoylcysteine decarboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Sulfopyruvate decarboxylase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Sulfopyruvate decarboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
pyruvate dehydrogenase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the pyruvate dehydrogenase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
serine-pyruvate aminotransferase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the serine-pyruvate aminotransferase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mitochondrial pyruvate dehydrogenase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial pyruvate dehydrogenase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
pyruvate dehydrogenase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the pyruvate dehydrogenase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
plastid pyruvate dehydrogenase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the plastid pyruvate dehydrogenase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
mitochondrial pyruvate dehydrogenase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mitochondrial pyruvate dehydrogenase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
ethyl pyruvate Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical ethyl pyruvate from the curated CTD Gene-Chemical Interactions dataset. |
methyl pyruvate Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical methyl pyruvate from the curated CTD Gene-Chemical Interactions dataset. |
Pyruvate Metabolism, Inborn Errors Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset. |
pyruvate Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term pyruvate in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
pyruvate biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the pyruvate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
glycerol biosynthetic process from pyruvate Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glycerol biosynthetic process from pyruvate biological process from the curated GO Biological Process Annotations 2015 dataset. |
pyruvate family amino acid catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the pyruvate family amino acid catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
acetyl-coa biosynthetic process from pyruvate Gene SetFrom GO Biological Process Annotations 2015 genes participating in the acetyl-coa biosynthetic process from pyruvate biological process from the curated GO Biological Process Annotations 2015 dataset. |
mitochondrial pyruvate transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the mitochondrial pyruvate transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of acetyl-coa biosynthetic process from pyruvate Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of acetyl-coa biosynthetic process from pyruvate biological process from the curated GO Biological Process Annotations 2015 dataset. |
pyruvate metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the pyruvate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
pyruvate family amino acid metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the pyruvate family amino acid metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
pyruvate transmembrane transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the pyruvate transmembrane transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
pyruvate transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the pyruvate transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
lactate biosynthetic process from pyruvate Gene SetFrom GO Biological Process Annotations 2015 genes participating in the lactate biosynthetic process from pyruvate biological process from the curated GO Biological Process Annotations 2015 dataset. |
serine-pyruvate aminotransferase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the serine-pyruvate aminotransferase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
pyruvate dehydrogenase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the pyruvate dehydrogenase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
mitochondrial pyruvate dehydrogenase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the mitochondrial pyruvate dehydrogenase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
l-glutamine:pyruvate aminotransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-glutamine:pyruvate aminotransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-phenylalanine:pyruvate aminotransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-phenylalanine:pyruvate aminotransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
pyruvate kinase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the pyruvate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
pyruvate dehydrogenase (acetyl-transferring) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the pyruvate dehydrogenase (acetyl-transferring) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
[pyruvate dehydrogenase (lipoamide)] phosphatase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the [pyruvate dehydrogenase (lipoamide)] phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
beta-alanine-pyruvate transaminase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the beta-alanine-pyruvate transaminase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
pyruvate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the pyruvate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
pyruvate dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the pyruvate dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
serine-pyruvate transaminase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the serine-pyruvate transaminase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
pyruvate dehydrogenase (acetyl-transferring) kinase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the pyruvate dehydrogenase (acetyl-transferring) kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
pyruvate carboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the pyruvate carboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
(r)-3-amino-2-methylpropionate-pyruvate transaminase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the (r)-3-amino-2-methylpropionate-pyruvate transaminase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
pyruvate secondary active transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the pyruvate secondary active transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
B-Sulfinyl pyruvate Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the B-Sulfinyl pyruvate metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ethyl pyruvate Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ethyl pyruvate metabolite from the curated HMDB Metabolites of Enzymes dataset. |
3-(3,5-Diiodo-4-hydroxyphenyl)pyruvate Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 3-(3,5-Diiodo-4-hydroxyphenyl)pyruvate metabolite from the curated HMDB Metabolites of Enzymes dataset. |
increased serum pyruvate Gene SetFrom HPO Gene-Disease Associations genes associated with the increased serum pyruvate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of pyruvate family amino acid metabolism Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of pyruvate family amino acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
decreased activity of the pyruvate dehydrogenase (pdh) complex Gene SetFrom HPO Gene-Disease Associations genes associated with the decreased activity of the pyruvate dehydrogenase (pdh) complex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
decreased pyruvate carboxylase activity Gene SetFrom HPO Gene-Disease Associations genes associated with the decreased pyruvate carboxylase activity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Pyruvate kinase, active site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate kinase, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate kinase, barrel Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate kinase, barrel protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate kinase-like, insert domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate kinase-like, insert domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate kinase, alpha/beta Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate kinase, alpha/beta protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate dehydrogenase E1 component subunit beta Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate dehydrogenase E1 component subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate kinase, beta-barrel insert domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate kinase, beta-barrel insert domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate kinase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate carboxyltransferase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate carboxyltransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Mitochondrial pyruvate carrier Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial pyruvate carrier protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate kinase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate kinase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate carboxylase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate carboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyruvate/Phosphoenolpyruvate kinase-like domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate/Phosphoenolpyruvate kinase-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
pyruvate metabolism Gene SetFrom KEGG Pathways proteins participating in the pyruvate metabolism pathway from the KEGG Pathways dataset. |
abnormal circulating pyruvate kinase level Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal circulating pyruvate kinase level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Pyruvate metabolism Gene SetFrom PANTHER Pathways proteins participating in the Pyruvate metabolism pathway from the PANTHER Pathways dataset. |
Pyruvate metabolism Gene Setproteins participating in the Pyruvate metabolism pathway from the Reactome Pathways dataset. |
Pyruvate metabolism and Citric Acid (TCA) cycle Gene Setproteins participating in the Pyruvate metabolism and Citric Acid (TCA) cycle pathway from the Reactome Pathways dataset. |
Regulation of pyruvate dehydrogenase (PDH) complex Gene Setproteins participating in the Regulation of pyruvate dehydrogenase (PDH) complex pathway from the Reactome Pathways dataset. |
Pyruvate Metabolism, Inborn Errors Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pyruvate Metabolism, Inborn Errors in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Increased Serum Pyruvate Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Increased Serum Pyruvate in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Decreased Activity Of The Pyruvate Dehydrogenase Complex Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Activity Of The Pyruvate Dehydrogenase Complex in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Decreased Pyruvate Carboxylase Activity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Pyruvate Carboxylase Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Reduced Red Cell Pyruvate Kinase Activity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Reduced Red Cell Pyruvate Kinase Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
acetyl-CoA biosynthetic process from pyruvate Gene SetFrom GO Biological Process Annotations 2023 genes participating in the acetyl-CoA biosynthetic process from pyruvate biological process from the curated GO Biological Process Annotations 2023 dataset. |
pyruvate transmembrane transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the pyruvate transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
mitochondrial pyruvate transmembrane transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the mitochondrial pyruvate transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
pyruvate metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the pyruvate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
pyruvate biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the pyruvate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
glycerol biosynthetic process from pyruvate Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glycerol biosynthetic process from pyruvate biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of glucose catabolic process to lactate via pyruvate Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of glucose catabolic process to lactate via pyruvate biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of acetyl-CoA biosynthetic process from pyruvate Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of acetyl-CoA biosynthetic process from pyruvate biological process from the curated GO Biological Process Annotations 2023 dataset. |
pyruvate transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the pyruvate transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of pyruvate dehydrogenase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of pyruvate dehydrogenase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
pyruvate oxidation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the pyruvate oxidation biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of pyruvate kinase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of pyruvate kinase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of pyruvate dehydrogenase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of pyruvate dehydrogenase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of glucose catabolic process to lactate via pyruvate Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of glucose catabolic process to lactate via pyruvate biological process from the curated GO Biological Process Annotations 2023 dataset. |
pyruvate dehydrogenase (NAD+) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the pyruvate dehydrogenase (NAD+) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
pyruvate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the pyruvate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
pyruvate secondary active transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the pyruvate secondary active transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
pyruvate dehydrogenase (acetyl-transferring) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the pyruvate dehydrogenase (acetyl-transferring) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
pyruvate carboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the pyruvate carboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
pyruvate kinase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the pyruvate kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
serine-pyruvate transaminase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the serine-pyruvate transaminase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
pyruvate dehydrogenase (acetyl-transferring) kinase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the pyruvate dehydrogenase (acetyl-transferring) kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
[pyruvate dehydrogenase (lipoamide)] phosphatase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the [pyruvate dehydrogenase (lipoamide)] phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
pyruvate dehydrogenase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the pyruvate dehydrogenase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
pyruvate dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the pyruvate dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
abnormal circulating pyruvate kinase level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal circulating pyruvate kinase level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Pyruvate metabolism Gene Setproteins participating in the Pyruvate metabolism pathway from the Reactome Pathways 2024 dataset. |
Regulation of pyruvate dehydrogenase (PDH) complex Gene Setproteins participating in the Regulation of pyruvate dehydrogenase (PDH) complex pathway from the Reactome Pathways 2024 dataset. |
Regulation of pyruvate metabolism Gene Setproteins participating in the Regulation of pyruvate metabolism pathway from the Reactome Pathways 2024 dataset. |
pyruvate decarboxylation to acetyl-CoA Gene SetFrom GO Biological Process Annotations 2025 genes participating in the pyruvate decarboxylation to acetyl-CoA biological process from the curated GO Biological Process Annotations 2025 dataset. |
pyruvate transmembrane transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the pyruvate transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
mitochondrial pyruvate transmembrane transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the mitochondrial pyruvate transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
pyruvate metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the pyruvate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of acetyl-CoA biosynthetic process from pyruvate Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of acetyl-CoA biosynthetic process from pyruvate biological process from the curated GO Biological Process Annotations 2025 dataset. |
pyruvate biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the pyruvate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
glycerol biosynthetic process from pyruvate Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glycerol biosynthetic process from pyruvate biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of glucose catabolic process to lactate via pyruvate Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of glucose catabolic process to lactate via pyruvate biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of acetyl-CoA biosynthetic process from pyruvate Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of acetyl-CoA biosynthetic process from pyruvate biological process from the curated GO Biological Process Annotations 2025 dataset. |
pyruvate transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the pyruvate transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of pyruvate kinase activity Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of pyruvate kinase activity biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of pyruvate dehydrogenase activity Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of pyruvate dehydrogenase activity biological process from the curated GO Biological Process Annotations 2025 dataset. |
glucose catabolic process to pyruvate Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glucose catabolic process to pyruvate biological process from the curated GO Biological Process Annotations 2025 dataset. |
pyruvate family amino acid catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the pyruvate family amino acid catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of glucose catabolic process to lactate via pyruvate Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of glucose catabolic process to lactate via pyruvate biological process from the curated GO Biological Process Annotations 2025 dataset. |
pyruvate family amino acid metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the pyruvate family amino acid metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
pyruvate family amino acid biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the pyruvate family amino acid biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
pyruvate dehydrogenase complex Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the pyruvate dehydrogenase complex cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
pyruvate kinase complex Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the pyruvate kinase complex cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
pyruvate dehydrogenase (NAD+) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the pyruvate dehydrogenase (NAD+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
pyruvate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the pyruvate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
pyruvate secondary active transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the pyruvate secondary active transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
pyruvate dehydrogenase (acetyl-transferring) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the pyruvate dehydrogenase (acetyl-transferring) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
pyruvate carboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the pyruvate carboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
pyruvate kinase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the pyruvate kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-serine-pyruvate transaminase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-serine-pyruvate transaminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
pyruvate dehydrogenase (acetyl-transferring) kinase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the pyruvate dehydrogenase (acetyl-transferring) kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
(R)-3-amino-2-methylpropionate-pyruvate transaminase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the (R)-3-amino-2-methylpropionate-pyruvate transaminase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
pyruvate dehydrogenase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the pyruvate dehydrogenase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
pyruvate dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the pyruvate dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Pyruvate dehydrogenase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Pyruvate dehydrogenase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Pyruvate dehydrogenase (lipoamide) phosphatase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Pyruvate dehydrogenase (lipoamide) phosphatase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Pyruvate kinase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Pyruvate kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Pyruvate dehydrogenase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Pyruvate dehydrogenase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Mitochondrial pyruvate dehydrogenase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Mitochondrial pyruvate dehydrogenase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Pyruvate kinase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Pyruvate kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
serine-pyruvate aminotransferase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the serine-pyruvate aminotransferase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Cytosolic pyruvate dehydrogenase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Cytosolic pyruvate dehydrogenase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
PKM2 pyruvate kinase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the PKM2 pyruvate kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Plastid pyruvate dehydrogenase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Plastid pyruvate dehydrogenase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Pyruvate kinase hyperactivity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate kinase hyperactivity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Decreased activity of the pyruvate dehydrogenase complex Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Decreased activity of the pyruvate dehydrogenase complex phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyruvate metabolism Gene SetFrom KEGG Pathways 2026 proteins participating in the Pyruvate metabolism pathway from the KEGG Pathways 2026 dataset. |
Neuraminidase deficiency with beta-galactosidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset. |
eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choline deficiency; dna damage; folic acid deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
protein c deficiency; protein s deficiency; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Setproteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset. |
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Setproteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset. |
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Setproteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset. |
Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Setproteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset. |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bifunctional peroxisomal enzyme deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked ichthyosis with steryl-sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoglycerate dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Galactosylceramide beta-galactosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated 17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Endplate acetylcholinesterase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sepiapterin reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methionine adenosyltransferase deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carbonic anhydrase va deficiency, hyperammonemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ribose-5-phosphate isomerase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kininogen deficiency, total Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
N-terminal acetyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Creatine deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birbeck granule deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SCID due to ADA deficiency, delayed onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Properdin deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor d deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to protein S deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonyl-CoA epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 8 deficiency type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testosterone 17-beta-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acyl-CoA dehydrogenase family, member 9, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of isobutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral folate deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoserine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine acylcarnitine translocase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinyl-CoA acetoacetate transferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
HNSHA due to aldolase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-activating factor acetylhydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipase deficiency combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
5-Oxoprolinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency with achalasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proopiomelanocortin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrinsic factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
21-hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutaryl-CoA oxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thiopurine methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase II deficiency, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lactate dehydrogenase b deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen deficiency, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Biotinidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Biotinidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant isolated somatotropin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypohidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of phosphoserine phosphatase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated growth hormone deficiency type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anhidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hyaluronoglucosaminidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sulfite oxidase deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen activator inhibitor type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monoamine oxidase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor V deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenine phosphoribosyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamate formiminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoglycemia with deficiency of glycogen synthetase in the liver Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Follicle-stimulating hormone deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ganglioside sialidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C1q deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interferon gamma receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet glycoprotein IV deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
N-acetylaspartate deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Triosephosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gaucher disease, atypical, due to saposin C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aromatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor II deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor xiii, a subunit, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylcrotonyl CoA carboxylase 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia due to hexokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosteroid-binding globulin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 9 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holocarboxylase synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
2,4-Dienoyl-CoA reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of glycerate kinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia with vitamin E deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of galactokinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ACTH deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carboxylesterase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Purine-nucleoside phosphorylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal intrahepatic cholestasis caused by citrin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 6 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Antithrombin III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inosine triphosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth hormone deficiency with pituitary anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocysteinemia due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of pyrroline-5-carboxylate reductase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to ficolin 3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sarcosine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor v and factor viii, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branched-chain ketoacid dehydrogenase kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
L-ferritin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arginase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hepatic lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor IX deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha-fetoprotein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia due to adenosine kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of iodide peroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycosylphosphatidylinositol deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital lactase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Caspase-8 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoglycerate kinase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anaphylotoxin inactivator deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cytochrome-c oxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enterokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enterokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythrocyte amp deaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor VII deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Apolipoprotein a-i deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glut1 deficiency syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-aminobutyric acid transaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myeloperoxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial phosphate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor XI deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Porphobilinogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Very long chain acyl-CoA dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IRAK4 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortisone reductase deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arginine:glycine amidinotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methionine adenosyltransferase deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscle AMP deaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropyrimidinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dimethylglycine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hydroxymethylglutaryl-CoA lyase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isovaleryl-CoA dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd59 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sphingolipid activator protein 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ferroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of steroid 11-beta-monooxygenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lysosomal acid lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dopamine beta hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UDPglucose-4-epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of alpha-mannosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-like growth factor I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gluthathione synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fumarase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of transaldolase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MASP2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Argininosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prekallikrein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chitotriosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chitotriosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prothrombin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial trifunctional protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GTP cyclohydrolase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 beta-Hydroxysteroid dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinate-semialdehyde dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked agammaglobulinemia with growth hormone deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Okt4 epitope deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of acetyl-CoA acetyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mineralocorticoid deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement 1s deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropteridine reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mannose-binding protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucose transporter type 1 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myd88 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd8 deficiency, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acid-labile subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fructose-biphosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megaloblastic anemia due to dihydrofolate reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor B deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement factor B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor VIII deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proline dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor H deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycine N-methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine carbamoyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sucrase-isomaltase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cholesterol monooxygenase (side-chain cleaving) deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fucosyltransferase 6 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Asparagine synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylate kinase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyrylcholine esterase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Protein S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of glycerol kinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of xanthine oxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Urocanate hydratase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Hydroxyphenylpyruvate dioxygenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of factor V and factor VIII, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor xiii, b subunit, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth deficiency and mental retardation with facial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of sialidase AND beta galactosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prolidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of beta-ureidopropionase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of guanidinoacetate methyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYD88 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset. |
Anemia, Iron-Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Platelet Glycoprotein IV Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Phosphate Carrier Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset. |
Leukocyte Adhesion Deficiency, Type III Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset. |
Prekallikrein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prekallikrein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylenetetrahydrofolate reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor XI Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XI Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine palmitoyl transferase 1A deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset. |
Preaxial deficiency, postaxial polydactyly and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset. |
THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Carbamoyl-Phosphate Synthase I Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Tyrosine Kinase 2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Properdin deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset. |
Glutathione synthetase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset. |
Glucocorticoid Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Aniridia cerebellar ataxia mental deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Proopiomelanocortin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Proopiomelanocortin Deficiency from the curated CTD Gene-Disease Associations dataset. |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glucocorticoid Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Intrinsic Factor Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Intrinsic Factor Deficiency from the curated CTD Gene-Disease Associations dataset. |
Adenosine monophosphate deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
alpha 1-Antitrypsin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Plasminogen Deficiency, Type I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset. |
IgA Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IgA Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lipase deficiency combined Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset. |
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
DNA Repair-Deficiency Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset. |
Congenital thrombotic disease, due to Protein C deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset. |
Enterokinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Enterokinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset. |
Lactase Deficiency, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset. |
Lecithin Acyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lecithin Acyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Interleukin 2 Receptor, Alpha, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset. |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset. |
Beta ketothiolase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset. |
Transaldolase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Transaldolase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset. |
CD8 Deficiency, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset. |
Neuraminidase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Folic Acid Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lysosomal acid lipase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset. |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset. |
Vitamin B 12 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Isolated Growth Hormone Deficiency, Type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset. |
Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset. |
Familial HDL deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine-Acylcarnitine Translocase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Methylcobalamin Deficiency, CblG Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset. |
Flaujeac factor deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset. |
Ribose 5-Phosphate Isomerase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset. |
VLCAD deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset. |
18-Hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Creatine deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Complex III Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset. |
PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
dopamine beta hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset. |
Growth mental deficiency syndrome of Myhre Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Ornithine Carbamoyltransferase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Protein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Protein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor 8 deficiency, acquired Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset. |
3-methylcrotonyl CoA carboxylase 2 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset. |
Adenylosuccinate lyase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset. |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset. |
Thiopurine S methyltranferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Isolated Growth Hormone Deficiency, Type IB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset. |
Vitamin A Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin A Deficiency from the curated CTD Gene-Disease Associations dataset. |
Molybdenum cofactor deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Phosphoglycerate Kinase 1 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset. |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset. |
Plasminogen Activator Inhibitor-1 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoglycerate Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoglycerate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Vitamin D Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin D Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor V Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor V Deficiency from the curated CTD Gene-Disease Associations dataset. |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
Ataxia with vitamin E deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor X Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor X Deficiency from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset. |
Holocarboxylase Synthetase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Holocarboxylase Synthetase Deficiency from the curated CTD Gene-Disease Associations dataset. |
N-acetyl glutamate synthetase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset. |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset. |
Dimethylglycine Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dimethylglycine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset. |
Trehalase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trehalase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Guanidinoacetate methyltransferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Guanidinoacetate methyltransferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Aminoacylase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Antithrombin III Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Antithrombin III Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoenolpyruvate carboxykinase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset. |
17-Hydroxysteroid Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Heparin Cofactor II Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heparin Cofactor II Deficiency from the curated CTD Gene-Disease Associations dataset. |
Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset. |
D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset. |
Arginine:Glycine Amidinotransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Biotinidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Biotinidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Methionine Adenosyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methionine Adenosyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoenolpyruvate carboxykinase 2 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset. |
Glycine N-Methyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycine N-Methyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Krabbe Disease, Atypical, due to Saposin A Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset. |
Magnesium Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Magnesium Deficiency from the curated CTD Gene-Disease Associations dataset. |
2-Methylbutyryl-CoA Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 2-Methylbutyryl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glycosylphosphatidylinositol deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycosylphosphatidylinositol deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor Xiii, A Subunit, Deficiency Of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor Xiii, A Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset. |
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency from the curated CTD Gene-Disease Associations dataset. |
Leukocyte adhesion deficiency type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukocyte adhesion deficiency type 1 from the curated CTD Gene-Disease Associations dataset. |
Isobutyryl-CoA dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isobutyryl-CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Dihydropyrimidine Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dihydropyrimidine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Corticosteroid-Binding Globulin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corticosteroid-Binding Globulin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset. |
ACTH Deficiency, Isolated Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ACTH Deficiency, Isolated from the curated CTD Gene-Disease Associations dataset. |
Factor XIII, B Subunit, Deficiency Of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset. |
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset. |
GLUT1 DEFICIENCY SYNDROME 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GLUT1 DEFICIENCY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset. |
Iron-Refractory Iron Deficiency Anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Iron-Refractory Iron Deficiency Anemia from the curated CTD Gene-Disease Associations dataset. |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
Specific Granule Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Specific Granule Deficiency from the curated CTD Gene-Disease Associations dataset. |
Insulin-Like Growth Factor I Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Insulin-Like Growth Factor I Deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement component 5 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement component 5 deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Component 7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Component 7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lactate dehydrogenase deficiency type A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactate dehydrogenase deficiency type A from the curated CTD Gene-Disease Associations dataset. |
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
Cortisone reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cortisone reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
Peroxisomal ACYL-COA oxidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Peroxisomal ACYL-COA oxidase deficiency from the curated CTD Gene-Disease Associations dataset. |
NADH cytochrome B5 reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
3b-Hydroxysteroid Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3b-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Thiamine Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thiamine Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Complex II Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Complex II Deficiency from the curated CTD Gene-Disease Associations dataset. |
Sucrase-isomaltase deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Systemic carnitine deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Systemic carnitine deficiency from the curated CTD Gene-Disease Associations dataset. |
Gamma-cystathionase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gamma-cystathionase deficiency from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset. |
Combined Saposin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Saposin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Radial Ray Deficiency, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Radial Ray Deficiency, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Beta-Ureidopropionase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta-Ureidopropionase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset. |
Protein C Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Protein C Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
succinic semialdehyde dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease succinic semialdehyde dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Carboxypeptidase N Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carboxypeptidase N Deficiency from the curated CTD Gene-Disease Associations dataset. |
Purine Nucleoside Phosphorylase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Purine Nucleoside Phosphorylase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Component 4, Partial Deficiency Of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Component 4, Partial Deficiency Of from the curated CTD Gene-Disease Associations dataset. |
Familial Glucocorticoid Deficiency 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset. |
Endplate Acetylcholinesterase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Endplate Acetylcholinesterase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor XIII Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XIII Deficiency from the curated CTD Gene-Disease Associations dataset. |
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Fructose-1,6-Diphosphatase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fructose-1,6-Diphosphatase Deficiency from the curated CTD Gene-Disease Associations dataset. |
MASP2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MASP2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
2,4-Dienoyl-CoA Reductase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 2,4-Dienoyl-CoA Reductase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Alpha-ketoglutarate dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha-ketoglutarate dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Factor H Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Factor H Deficiency from the curated CTD Gene-Disease Associations dataset. |
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 2 DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 2 DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
TRANSCOBALAMIN II DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Prolidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prolidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Leukocyte-Adhesion Deficiency Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukocyte-Adhesion Deficiency Syndrome from the curated CTD Gene-Disease Associations dataset. |
Dihydropyrimidinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dihydropyrimidinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Deficiency Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deficiency Diseases from the curated CTD Gene-Disease Associations dataset. |
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BISPHOSPHOGLYCERATE MUTASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Vitamin E Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin E Deficiency from the curated CTD Gene-Disease Associations dataset. |
PROTHROMBIN DEFICIENCY, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency from the curated CTD Gene-Disease Associations dataset. |
CD59 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Myeloperoxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myeloperoxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylmalonyl-CoA Epimerase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonyl-CoA Epimerase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mevalonate Kinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mevalonate Kinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Factor I Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Factor I Deficiency from the curated CTD Gene-Disease Associations dataset. |
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta-Hydroxyisobutyryl CoA Deacylase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Cytochrome-c Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cytochrome-c Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Hyaluronidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyaluronidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
3-methylcrotonyl CoA carboxylase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Multiple Sulfatase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multiple Sulfatase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Lysosomal beta-mannosidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lysosomal beta-mannosidase deficiency from the curated CTD Gene-Disease Associations dataset. |
Medium chain acyl CoA dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Medium chain acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Familial apoceruloplasmin deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial apoceruloplasmin deficiency from the curated CTD Gene-Disease Associations dataset. |
Metachromatic Leukodystrophy due to Saposin B Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Sulfite oxidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sulfite oxidase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor VII Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor VII Deficiency from the curated CTD Gene-Disease Associations dataset. |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
IRAK4 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IRAK4 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Butyrylcholinesterase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Butyrylcholinesterase deficiency from the curated CTD Gene-Disease Associations dataset. |
Short chain Acyl CoA dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Short chain Acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Gamma aminobutyric acid transaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gamma aminobutyric acid transaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Component 6 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Component 6 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glutamate formiminotransferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutamate formiminotransferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor XII Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XII Deficiency from the curated CTD Gene-Disease Associations dataset. |
Aromatase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aromatase deficiency from the curated CTD Gene-Disease Associations dataset. |
Urocanase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Urocanase deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoserine Aminotransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoserine Aminotransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset. |
Immunoglobulin a deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunoglobulin a deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Immunoglobulin a deficiency 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunoglobulin a deficiency 1 from the curated CTD Gene-Disease Associations dataset. |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Glucosephosphate Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucosephosphate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial complex I deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial complex I deficiency from the curated CTD Gene-Disease Associations dataset. |
Follicle-stimulating hormone deficiency, isolated Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Follicle-stimulating hormone deficiency, isolated from the curated CTD Gene-Disease Associations dataset. |
Split-hand/foot malformation with long bone deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset. |
Immunologic Deficiency Syndromes Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunologic Deficiency Syndromes from the curated CTD Gene-Disease Associations dataset. |
protein s deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease protein s deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
systemic primary carnitine deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
purine nucleoside phosphorylase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
alpha 1-antitrypsin deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease alpha 1-antitrypsin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
holocarboxylase synthetase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease holocarboxylase synthetase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
gamma chain deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease gamma chain deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
serine deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease serine deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
cerebral creatine deficiency syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cerebral creatine deficiency syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
complement deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease complement deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
agat deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease agat deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
prothrombin deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease prothrombin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
complement factor i deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease complement factor i deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
glucosephosphate dehydrogenase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease glucosephosphate dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
protein c deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease protein c deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
dihydropyrimidine dehydrogenase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease dihydropyrimidine dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
biotinidase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease biotinidase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
beta-ketothiolase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease beta-ketothiolase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
ornithine carbamoyltransferase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ornithine carbamoyltransferase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
factor v deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease factor v deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
ornithine translocase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ornithine translocase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
cd40 ligand deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cd40 ligand deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
b cell deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease b cell deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
3-methylcrotonyl-coa carboxylase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease 3-methylcrotonyl-coa carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
phgdh deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease phgdh deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
succinic semialdehyde dehydrogenase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease succinic semialdehyde dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
adenosine deaminase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease adenosine deaminase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
antithrombin iii deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease antithrombin iii deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
cytochrome-c oxidase deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cytochrome-c oxidase deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
familial lipoprotein lipase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial lipoprotein lipase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
multiple carboxylase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease multiple carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
iron deficiency anemia Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease iron deficiency anemia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
nutritional deficiency disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease nutritional deficiency disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
choline deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease choline deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mhc class ii deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mhc class ii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
t lymphocyte deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease t lymphocyte deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
leukocyte-adhesion deficiency syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease leukocyte-adhesion deficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial lipoprotein lipase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial lipoprotein lipase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
complement deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease complement deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
urethral intrinsic sphincter deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease urethral intrinsic sphincter deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital intrinsic factor deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital intrinsic factor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
folic acid deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease folic acid deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
fructose-1,6-bisphosphatase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fructose-1,6-bisphosphatase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
coenzyme q10 deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease coenzyme q10 deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
psat deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease psat deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
carbamoyl phosphate synthetase i deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease carbamoyl phosphate synthetase i deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
leukocyte adhesion deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease leukocyte adhesion deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
adenosine deaminase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease adenosine deaminase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
antithrombin iii deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease antithrombin iii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
factor xiii deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor xiii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
b cell linker protein deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease b cell linker protein deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cd3delta deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd3delta deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
iron deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease iron deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
protein s deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease protein s deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
gamma chain deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease gamma chain deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
immunoglobulin alpha deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease immunoglobulin alpha deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
intestinal disaccharidase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease intestinal disaccharidase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
artemis deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease artemis deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cd40 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd40 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
agat deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease agat deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
dna ligase iv deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease dna ligase iv deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cd45 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd45 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
factor viii deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor viii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cd3zeta deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd3zeta deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
factor vii deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor vii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
selective igg deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease selective igg deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
factor xii deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor xii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cd40 ligand deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd40 ligand deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
serine deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease serine deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
interleukin-7 receptor alpha deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease interleukin-7 receptor alpha deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cd3gamma deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd3gamma deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
vitamin b12 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease vitamin b12 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
multiple carboxylase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease multiple carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
nutritional deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease nutritional deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cerebral creatine deficiency syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cerebral creatine deficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
factor xi deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor xi deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
coronin-1a deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease coronin-1a deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
3-methylcrotonyl-coa carboxylase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease 3-methylcrotonyl-coa carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
factor x deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor x deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
systemic primary carnitine deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease systemic primary carnitine deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
purine nucleoside phosphorylase deficiency Gene SetFrom 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. |
c1 inhibitor deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease c1 inhibitor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
prothrombin deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease prothrombin deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
holocarboxylase synthetase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease holocarboxylase synthetase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
selective iga deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease selective iga deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
pyridoxine deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pyridoxine deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
biotinidase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease biotinidase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ornithine translocase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ornithine translocase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
rh deficiency syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease rh deficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
beta-ketothiolase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease beta-ketothiolase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
platelet storage pool deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease platelet storage pool deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
succinic semialdehyde dehydrogenase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease succinic semialdehyde dehydrogenase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cd3epsilon deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd3epsilon deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mhc class i deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mhc class i deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
recombinase activating gene 1 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease recombinase activating gene 1 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
t cell deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease t cell deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
alpha 1-antitrypsin deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alpha 1-antitrypsin deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
psph deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease psph deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
complement factor i deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease complement factor i deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
glucosephosphate dehydrogenase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease glucosephosphate dehydrogenase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
protein c deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease protein c deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
dihydropyrimidine dehydrogenase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease dihydropyrimidine dehydrogenase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
complement component 5 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease complement component 5 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ornithine carbamoyltransferase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ornithine carbamoyltransferase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
factor v deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor v deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
b cell deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease b cell deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
protein-deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease protein-deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
selective immunoglobulin deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease selective immunoglobulin deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
c3 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease c3 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
galactokinase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease galactokinase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
vitamin k deficiency hemorrhagic disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease vitamin k deficiency hemorrhagic disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ahg deficiency disease; hemophilia a; hemorrhage; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ahg deficiency disease; hemophilia a; hemorrhage; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucosephosphate dehydrogenase deficiency; hyperbilirubinemia, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucosephosphate dehydrogenase deficiency; hyperbilirubinemia, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenoma; adenomatous polyps; colonic polyps; colorectal neoplasms; hyperplasia; magnesium deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenoma; adenomatous polyps; colonic polyps; colorectal neoplasms; hyperplasia; magnesium deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
g6pd deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease g6pd deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
iga deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thromboembolism; venous thrombosis; vitamin b deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thromboembolism; venous thrombosis; vitamin b deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
free protein s (type iia) deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease free protein s (type iia) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; wegener granulomatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; wegener granulomatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; fibrosis; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; fibrosis; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
tetrahydrobiopterin (bh4) deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease tetrahydrobiopterin (bh4) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenoma; colorectal neoplasms; folic acid deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenoma; colorectal neoplasms; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
deficiency of coagulation factor v Gene SetFrom GAD Gene-Disease Associations genes associated with the disease deficiency of coagulation factor v in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
end-plate acetylcholinesterase deficiency (type ic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease end-plate acetylcholinesterase deficiency (type ic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
protein s deficiency; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |