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<strong>Acquiredstrong> <strong>Proteinstrong> S Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> <strong>Proteinstrong> S Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
activated <strong>proteinstrong> c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated <strong>proteinstrong> c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; <strong>proteinstrong> c deficiency; <strong>proteinstrong> 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. |
factor v deficiency; hypoprothrombinemias; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease factor v deficiency; hypoprothrombinemias; <strong>proteinstrong> c deficiency; <strong>proteinstrong> 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; <strong>proteinstrong> c deficiency; <strong>proteinstrong> 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; <strong>proteinstrong> c deficiency; <strong>proteinstrong> 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 <strong>proteinstrong> c resistance; blood coagulation disorders; liver diseases; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated <strong>proteinstrong> c resistance; blood coagulation disorders; liver diseases; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>Proteinstrong> C Deficiency, <strong>Acquiredstrong> Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Proteinstrong> C Deficiency, <strong>Acquiredstrong> in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
eclampsia; pre-eclampsia; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eclampsia; pre-eclampsia; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders, inherited; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders, inherited; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neoplasms; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; venous thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neoplasms; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Factor 8 deficiency, <strong>acquiredstrong> Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Factor 8 deficiency, <strong>acquiredstrong> from the curated CTD Gene-Disease Associations dataset. |
Simian <strong>Acquiredstrong> Immune Deficiency Syndrome_T lymphocyte_GSE4785 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Simian <strong>Acquiredstrong> Immune Deficiency Syndrome_T lymphocyte_GSE4785 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Factor 8 Deficiency, <strong>Acquiredstrong> Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Factor 8 Deficiency, <strong>Acquiredstrong> in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Factor Xiii Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Factor Xiii Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Antithrombin Iii Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Antithrombin Iii Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> C1 Inhibitor Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> C1 Inhibitor Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Factor X Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Factor X Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Non-<strong>acquiredstrong> combined pituitary hormone deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-<strong>acquiredstrong> combined pituitary hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
activated <strong>proteinstrong> c resistance; <strong>proteinstrong> s deficiency; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated <strong>proteinstrong> c resistance; <strong>proteinstrong> s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>Acquiredstrong> long QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the <strong>Acquiredstrong> long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipodystrophy, Partial, <strong>Acquiredstrong> Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Lipodystrophy, Partial, <strong>Acquiredstrong> from the curated CTD Gene-Disease Associations dataset. |
<strong>Acquiredstrong> angioedema Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease <strong>Acquiredstrong> angioedema from the curated CTD Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Immunodeficiency Syndrome Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease <strong>Acquiredstrong> Immunodeficiency Syndrome from the curated CTD Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Immunodeficiency Syndrome Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait <strong>Acquiredstrong> Immunodeficiency Syndrome in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
<strong>acquiredstrong> metabolic disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease <strong>acquiredstrong> metabolic disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
<strong>acquiredstrong> metabolic disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease <strong>acquiredstrong> metabolic disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
<strong>acquiredstrong> immunodeficiency syndrome Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
<strong>acquiredstrong> thrombocytopenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease <strong>acquiredstrong> thrombocytopenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
<strong>acquiredstrong> polycythemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease <strong>acquiredstrong> polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
<strong>acquiredstrong> metabolic disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease <strong>acquiredstrong> metabolic disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
<strong>acquiredstrong> immunodeficiency syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease <strong>acquiredstrong> immunodeficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
community-<strong>acquiredstrong> infections; pneumonia, bacterial; pneumonia, viral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease community-<strong>acquiredstrong> infections; pneumonia, bacterial; pneumonia, viral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; cardiovascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; cardiovascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
community-<strong>acquiredstrong> infections; pneumonia, bacterial; sepsis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease community-<strong>acquiredstrong> infections; pneumonia, bacterial; sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; chromosome deletion; hiv infections; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; chromosome deletion; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; aids dementia complex; aids related dementia complex; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; aids dementia complex; aids related dementia complex; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; hiv infections; pregnancy complications, infectious; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; hiv infections; pregnancy complications, infectious; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
community-<strong>acquiredstrong> pneumonia (cap) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease community-<strong>acquiredstrong> pneumonia (cap) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
articulation disorders; dyslexia, <strong>acquiredstrong>; language disorders; noonan syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease articulation disorders; dyslexia, <strong>acquiredstrong>; language disorders; noonan syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aplastic anemia, <strong>acquiredstrong> Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aplastic anemia, <strong>acquiredstrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; hiv infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; hiv infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; substance abuse, intravenous Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; substance abuse, intravenous in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
community-<strong>acquiredstrong> infections; pneumonia; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease community-<strong>acquiredstrong> infections; pneumonia; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
community-<strong>acquiredstrong> infections; pneumonia, bacterial; pneumonia, pneumococcal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease community-<strong>acquiredstrong> infections; pneumonia, bacterial; pneumonia, pneumococcal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
community-<strong>acquiredstrong> infections; pneumonia; septic shock; shock, septic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease community-<strong>acquiredstrong> infections; pneumonia; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; tuberculosis, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; hiv seropositivity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; hiv seropositivity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
community-<strong>acquiredstrong> infections; pneumonia; sepsis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease community-<strong>acquiredstrong> infections; pneumonia; sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; kaposi sarcoma; lymphoma, aids-related; sarcoma, kaposi Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; kaposi sarcoma; lymphoma, aids-related; sarcoma, kaposi in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; community-<strong>acquiredstrong> infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-<strong>acquiredstrong> infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
community-<strong>acquiredstrong> infections; pneumonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease community-<strong>acquiredstrong> infections; pneumonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; hiv infections; spondylarthropathies; [x]human immunodeficiency virus disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; hiv infections; spondylarthropathies; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute-phase reaction; community-<strong>acquiredstrong> infections; pneumonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute-phase reaction; community-<strong>acquiredstrong> infections; pneumonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome; aids-related opportunistic infections; cytomegalovirus retinitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>acquiredstrong> Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term <strong>acquiredstrong> in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Nephrotic syndrome (<strong>acquiredstrong>) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Nephrotic syndrome (<strong>acquiredstrong>) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
<strong>acquiredstrong> metabolic disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease <strong>acquiredstrong> metabolic disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
<strong>acquiredstrong> immunodeficiency syndrome Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease <strong>acquiredstrong> immunodeficiency syndrome in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
<strong>acquiredstrong> abnormal hair pattern Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the <strong>acquiredstrong> abnormal hair pattern phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
<strong>acquiredstrong> abnormal hair pattern Gene SetFrom HPO Gene-Disease Associations genes associated with the <strong>acquiredstrong> abnormal hair pattern phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Community-<strong>Acquiredstrong> Infections Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Community-<strong>Acquiredstrong> Infections phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Simian <strong>Acquiredstrong> Immunodeficiency Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Simian <strong>Acquiredstrong> Immunodeficiency Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Dyslexia, <strong>Acquiredstrong> Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Dyslexia, <strong>Acquiredstrong> phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
<strong>Acquiredstrong> Hyperostosis Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the <strong>Acquiredstrong> Hyperostosis Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
<strong>Acquiredstrong> Immunodeficiency Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the <strong>Acquiredstrong> Immunodeficiency Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
{long qt syndrome 1, <strong>acquiredstrong>, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {long qt syndrome 1, <strong>acquiredstrong>, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{long qt syndrome 2, <strong>acquiredstrong>, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {long qt syndrome 2, <strong>acquiredstrong>, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{long qt syndrome, <strong>acquiredstrong>, reduced susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {long qt syndrome, <strong>acquiredstrong>, reduced susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{lipodystrophy, partial, <strong>acquiredstrong>, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {lipodystrophy, partial, <strong>acquiredstrong>, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
Community <strong>Acquiredstrong> Pneumonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Community <strong>Acquiredstrong> Pneumonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Long Qt Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Long Qt Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Camptodactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Camptodactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hospital <strong>Acquiredstrong> Pneumonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hospital <strong>Acquiredstrong> Pneumonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dental Fluorosis, <strong>Acquiredstrong> Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dental Fluorosis, <strong>Acquiredstrong> in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Angioedema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Angioedema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Aplastic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Aplastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Pectus Carinatum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Pectus Carinatum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Kyphoscoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Kyphoscoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Hypogammaglobulinemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Hypogammaglobulinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Hallux Valgus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Hallux Valgus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Secondary <strong>Acquiredstrong> Sideroblastic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Secondary <strong>Acquiredstrong> Sideroblastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thrombotic Thrombocytopenic Purpura, <strong>Acquiredstrong> Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thrombotic Thrombocytopenic Purpura, <strong>Acquiredstrong> in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Porencephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Porencephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic <strong>Acquiredstrong> Lymphedema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic <strong>Acquiredstrong> Lymphedema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Partial Lipodystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Partial Lipodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Hypoparathyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Hypoparathyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Flat Foot Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Flat Foot in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metabolic Disorder, Central Nervous System, <strong>Acquiredstrong> Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metabolic Disorder, Central Nervous System, <strong>Acquiredstrong> in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Thrombocytopenia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Thrombocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Nephrogenic Diabetes Insipidus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Nephrogenic Diabetes Insipidus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Phimosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Phimosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Hypofibrinogenemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Hypofibrinogenemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Von Willebrand'S Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Von Willebrand'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Cubitus Valgus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Cubitus Valgus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary <strong>Acquiredstrong> Melanosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary <strong>Acquiredstrong> Melanosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypocalciuric Hypercalcemia, <strong>Acquiredstrong> Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypocalciuric Hypercalcemia, <strong>Acquiredstrong> in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Thrombophilia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Thrombophilia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Atrophy Of Ovary Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Atrophy Of Ovary in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Obstructive Azoospermia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Obstructive Azoospermia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult <strong>Acquiredstrong> Toxoplasmosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult <strong>Acquiredstrong> Toxoplasmosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Neuromyotonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Neuromyotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Haemophilia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Haemophilia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Clubfoot Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Clubfoot in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Cystic Kidney Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Cystic Kidney Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Polyneuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Polyneuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Anomaly Of Tongue Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Anomaly Of Tongue in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Hypophosphatemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Hypophosphatemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Methemoglobinemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Methemoglobinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Deformity Of Finger Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Deformity Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Platelet Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Platelet Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Sensorineural Hearing Loss Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Sensorineural Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hospital <strong>Acquiredstrong> Bacterial Pneumonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hospital <strong>Acquiredstrong> Bacterial Pneumonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Cystic Disease Associated Renal Cell Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Cystic Disease Associated Renal Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Renal Cystic Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Renal Cystic Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Immunodeficiency Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Immunodeficiency Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Generalized Lipodystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Generalized Lipodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Hypogonadotropic Hypogonadism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Hypogonadotropic Hypogonadism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Trigger Finger Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Trigger Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary <strong>Acquiredstrong> Nasolacrimal Duct Obstruction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary <strong>Acquiredstrong> Nasolacrimal Duct Obstruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Cjd Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Cjd in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Prion Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Prion Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Fanconi Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Fanconi Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Communicating Hydrocephalus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Acquiredstrong> Communicating Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Acquiredstrong> Immunodeficiency Syndrome Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype <strong>Acquiredstrong> Immunodeficiency Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
<strong>Acquiredstrong> Meningomyelocele Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype <strong>Acquiredstrong> Meningomyelocele in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
<strong>Acquiredstrong> Genu Recurvatum Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype <strong>Acquiredstrong> Genu Recurvatum in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
<strong>Acquiredstrong> Amegakaryocytic Thrombocytopenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype <strong>Acquiredstrong> Amegakaryocytic Thrombocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
<strong>Acquiredstrong> Hearing Loss Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype <strong>Acquiredstrong> Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
<strong>Acquiredstrong> Purpura Fulminans Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype <strong>Acquiredstrong> Purpura Fulminans in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
<strong>Acquiredstrong> partial lipodystrophy Barraquer Simons syndrome Gene SetFrom WikiPathways Pathways 2024 <strong>proteinstrong>s participating in the <strong>Acquiredstrong> partial lipodystrophy Barraquer Simons syndrome pathway from the WikiPathways Pathways 2024 dataset. |
<strong>Acquiredstrong> metabolic disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease <strong>Acquiredstrong> metabolic disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> metabolic disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease <strong>Acquiredstrong> metabolic disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> immunodeficiency syndrome Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease <strong>Acquiredstrong> immunodeficiency syndrome in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> metabolic disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> metabolic disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> immunodeficiency syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> immunodeficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> thrombocytopenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> thrombocytopenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> generalized lipodystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> generalized lipodystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> angioedema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> angioedema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> hyperkeratosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> hyperkeratosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> hemangioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> hemangioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> night blindness Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> night blindness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> von Willebrand syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> von Willebrand syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> polycythemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> gastric outlet stenosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> gastric outlet stenosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> laryngomalacia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> laryngomalacia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> tear duct stenosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> tear duct stenosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Acquiredstrong> color blindness Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Acquiredstrong> color blindness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Leukodystrophy and <strong>acquiredstrong> microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Leukodystrophy and <strong>acquiredstrong> microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
<strong>Acquiredstrong> hemoglobin H disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the <strong>Acquiredstrong> hemoglobin H disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
<strong>Acquiredstrong> partial lipodystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the <strong>Acquiredstrong> partial lipodystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
<strong>Acquiredstrong> polycythemia vera Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the <strong>Acquiredstrong> polycythemia vera phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Genetic non-<strong>acquiredstrong> premature ovarian failure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Genetic non-<strong>acquiredstrong> premature ovarian failure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Nephrotic syndrome (<strong>acquiredstrong>) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nephrotic syndrome (<strong>acquiredstrong>) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neuraminidase deficiency with beta-galactosidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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. |
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. |
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. |
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. |
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 Set<strong>proteinstrong>s participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset. |
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set<strong>proteinstrong>s participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset. |
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set<strong>proteinstrong>s participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset. |
Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Set<strong>proteinstrong>s 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 <strong>proteinstrong> deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional <strong>proteinstrong> deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to <strong>proteinstrong> S deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to <strong>proteinstrong> S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to <strong>proteinstrong> C deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to <strong>proteinstrong> C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E3-binding <strong>proteinstrong> deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E3-binding <strong>proteinstrong> deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sphingolipid activator <strong>proteinstrong> 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sphingolipid activator <strong>proteinstrong> 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial trifunctional <strong>proteinstrong> deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial trifunctional <strong>proteinstrong> deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mannose-binding <strong>proteinstrong> deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mannose-binding <strong>proteinstrong> deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to <strong>proteinstrong> C deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to <strong>proteinstrong> C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
<strong>Proteinstrong> S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the <strong>Proteinstrong> S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital thrombotic disease, due to <strong>Proteinstrong> C deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Congenital thrombotic disease, due to <strong>Proteinstrong> C deficiency from the curated CTD Gene-Disease Associations dataset. |
Trifunctional <strong>Proteinstrong> Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Trifunctional <strong>Proteinstrong> Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
<strong>Proteinstrong> Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease <strong>Proteinstrong> Deficiency from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset. |
D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase E3-Binding <strong>Proteinstrong> Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Pyruvate Dehydrogenase E3-Binding <strong>Proteinstrong> Deficiency from the curated CTD Gene-Disease Associations dataset. |
<strong>Proteinstrong> C Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease <strong>Proteinstrong> C Deficiency from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
<strong>proteinstrong> s deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease <strong>proteinstrong> s deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
<strong>proteinstrong> c deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease <strong>proteinstrong> c deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
b cell linker <strong>proteinstrong> deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease b cell linker <strong>proteinstrong> deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
<strong>proteinstrong> s deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease <strong>proteinstrong> s deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
<strong>proteinstrong> c deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease <strong>proteinstrong> c deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
<strong>proteinstrong>-deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease <strong>proteinstrong>-deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
free <strong>proteinstrong> s (type iia) deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease free <strong>proteinstrong> s (type iia) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>proteinstrong> s deficiency; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>proteinstrong> s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>proteinstrong> deficiency; recurrence; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>proteinstrong> deficiency; recurrence; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>proteinstrong> s deficiency; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>proteinstrong> s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>proteinstrong> s deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>proteinstrong> s deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated <strong>proteinstrong> c resistance; factor v deficiency; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated <strong>proteinstrong> c resistance; factor v deficiency; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hereditary <strong>proteinstrong> c deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hereditary <strong>proteinstrong> c deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>proteinstrong> c deficiency; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease <strong>proteinstrong> c deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apnea; apoplexy; blood coagulation disorders; brain ischemia; cerebrovascular disorders; hypotony, muscle; muscle hypotonia; <strong>proteinstrong> c deficiency; seizures; stroke; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apnea; apoplexy; blood coagulation disorders; brain ischemia; cerebrovascular disorders; hypotony, muscle; muscle hypotonia; <strong>proteinstrong> c deficiency; seizures; stroke; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
<strong>proteinstrong> c deficiency Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease <strong>proteinstrong> c deficiency in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
<strong>Proteinstrong> Deficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the <strong>Proteinstrong> Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
<strong>Proteinstrong> S Deficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the <strong>Proteinstrong> S Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
<strong>Proteinstrong> C Deficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the <strong>Proteinstrong> C Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
thrombophilia due to <strong>proteinstrong> s deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to <strong>proteinstrong> s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to <strong>proteinstrong> s deficiency, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to <strong>proteinstrong> s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to <strong>proteinstrong> c deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to <strong>proteinstrong> c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
trifunctional <strong>proteinstrong> deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the trifunctional <strong>proteinstrong> deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
[<strong>proteinstrong> z deficiency] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [<strong>proteinstrong> z deficiency] phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to <strong>proteinstrong> c deficiency, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to <strong>proteinstrong> c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
d-bifunctional <strong>proteinstrong> deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the d-bifunctional <strong>proteinstrong> deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Deficiency Of Pulmonary Surfactant <strong>Proteinstrong> B Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Deficiency Of Pulmonary Surfactant <strong>Proteinstrong> B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Proteinstrong> Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Proteinstrong> Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Trifunctional <strong>Proteinstrong> Deficiency With Myopathy And Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Trifunctional <strong>Proteinstrong> Deficiency With Myopathy And Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Proteinstrong> C Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Proteinstrong> C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cholesteryl Ester Transfer <strong>Proteinstrong> Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cholesteryl Ester Transfer <strong>Proteinstrong> Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Proteinstrong> S Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Proteinstrong> S Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mannose-Binding <strong>Proteinstrong> Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mannose-Binding <strong>Proteinstrong> Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Steroidogenic Acute Regulatory <strong>Proteinstrong> Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Steroidogenic Acute Regulatory <strong>Proteinstrong> Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Trifunctional <strong>Proteinstrong> Deficiency, Type 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Trifunctional <strong>Proteinstrong> Deficiency, Type 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Thrombotic Disease, Due To <strong>Proteinstrong> C Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Thrombotic Disease, Due To <strong>Proteinstrong> C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Heterozygous <strong>Proteinstrong> C Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heterozygous <strong>Proteinstrong> C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary <strong>Proteinstrong> S Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary <strong>Proteinstrong> S Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Homozygous <strong>Proteinstrong> S Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Homozygous <strong>Proteinstrong> S Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Proteinstrong> Z Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease <strong>Proteinstrong> Z Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
<strong>Proteinstrong> S deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease <strong>Proteinstrong> S deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
<strong>Proteinstrong> C deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease <strong>Proteinstrong> C deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
D-bifunctional <strong>proteinstrong> deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease D-bifunctional <strong>proteinstrong> deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Mitochondrial trifunctional <strong>proteinstrong> deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Mitochondrial trifunctional <strong>proteinstrong> deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
cholesterol-ester transfer <strong>proteinstrong> deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cholesterol-ester transfer <strong>proteinstrong> deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Proteinstrong> S deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Proteinstrong> S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>Proteinstrong> C deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>Proteinstrong> C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial trifunctional <strong>proteinstrong> deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial trifunctional <strong>proteinstrong> deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
D-bifunctional <strong>proteinstrong> deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease D-bifunctional <strong>proteinstrong> deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive thrombophilia due to <strong>proteinstrong> C deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive thrombophilia due to <strong>proteinstrong> C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant thrombophilia due to <strong>proteinstrong> C deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to <strong>proteinstrong> C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
<strong>proteinstrong>-deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease <strong>proteinstrong>-deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant thrombophilia due to <strong>proteinstrong> S deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to <strong>proteinstrong> S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to <strong>proteinstrong> C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to <strong>proteinstrong> C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombophilia due to congenital <strong>proteinstrong> C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital <strong>proteinstrong> C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyruvate dehydrogenase E3-binding <strong>proteinstrong> deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyruvate dehydrogenase E3-binding <strong>proteinstrong> deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial trifunctional <strong>proteinstrong> deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial trifunctional <strong>proteinstrong> deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thrombophilia due to <strong>proteinstrong> S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to <strong>proteinstrong> S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sphingolipid activator <strong>proteinstrong> 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sphingolipid activator <strong>proteinstrong> 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sterol carrier <strong>proteinstrong> 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sterol carrier <strong>proteinstrong> 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
<strong>Proteinstrong> S deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the <strong>Proteinstrong> S deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombophilia due to congenital <strong>proteinstrong> S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital <strong>proteinstrong> S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
negative regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
<strong>proteinstrong> modification by small <strong>proteinstrong> conjugation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
<strong>proteinstrong> maturation by <strong>proteinstrong> folding Gene SetFrom GO Biological Process Annotations 2015 genes participating in the <strong>proteinstrong> maturation by <strong>proteinstrong> folding biological process from the curated GO Biological Process Annotations 2015 dataset. |
<strong>proteinstrong> targeting to vacuole involved in ubiquitin-dependent <strong>proteinstrong> catabolic process via the multivesicular body sorting pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the <strong>proteinstrong> targeting to vacuole involved in ubiquitin-dependent <strong>proteinstrong> catabolic process via the multivesicular body sorting pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of <strong>proteinstrong> kinase activity by regulation of <strong>proteinstrong> phosphorylation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of <strong>proteinstrong> kinase activity by regulation of <strong>proteinstrong> phosphorylation biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2015 dataset. |
activation of signaling <strong>proteinstrong> activity involved in unfolded <strong>proteinstrong> response Gene SetFrom GO Biological Process Annotations 2015 genes participating in the activation of signaling <strong>proteinstrong> activity involved in unfolded <strong>proteinstrong> response biological process from the curated GO Biological Process Annotations 2015 dataset. |
desensitization of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the desensitization of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2015 dataset. |
<strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
<strong>proteinstrong> deubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the <strong>proteinstrong> deubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
<strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene SetFrom GO Biological Process Annotations 2015 genes participating in the <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2015 dataset. |
<strong>proteinstrong> kinase c-activating g-<strong>proteinstrong> coupled receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the <strong>proteinstrong> kinase c-activating g-<strong>proteinstrong> coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
desensitization of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway by arrestin Gene SetFrom GO Biological Process Annotations 2015 genes participating in the desensitization of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway by arrestin biological process from the curated GO Biological Process Annotations 2015 dataset. |
<strong>proteinstrong> modification by small <strong>proteinstrong> removal Gene SetFrom GO Biological Process Annotations 2015 genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> removal biological process from the curated GO Biological Process Annotations 2015 dataset. |
<strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2015 genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2015 dataset. |
<strong>proteinstrong> binding involved in <strong>proteinstrong> folding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the <strong>proteinstrong> binding involved in <strong>proteinstrong> folding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 54 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 54 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 1 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 2 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 2 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 3 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 3 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Tumour <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Tumour <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
ADP-ribosylation factor-like <strong>proteinstrong> 6-interacting <strong>proteinstrong> 6 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the ADP-ribosylation factor-like <strong>proteinstrong> 6-interacting <strong>proteinstrong> 6 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Dyslexia-associated <strong>proteinstrong> KIAA0319-like <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Dyslexia-associated <strong>proteinstrong> KIAA0319-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Small proline-rich <strong>proteinstrong>/late cornified envelope <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Small proline-rich <strong>proteinstrong>/late cornified envelope <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
<strong>Proteinstrong> kinase A anchor <strong>proteinstrong>, RI-RII subunit-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the <strong>Proteinstrong> kinase A anchor <strong>proteinstrong>, RI-RII subunit-binding domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Guanine nucleotide binding <strong>proteinstrong> (G-<strong>proteinstrong>), alpha subunit Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Guanine nucleotide binding <strong>proteinstrong> (G-<strong>proteinstrong>), alpha subunit <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
<strong>Proteinstrong> transport <strong>proteinstrong> SecG/Sec61-beta/Sbh Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the <strong>Proteinstrong> transport <strong>proteinstrong> SecG/Sec61-beta/Sbh <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
<strong>Proteinstrong> of unknown function DUF3669, zinc finger <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the <strong>Proteinstrong> of unknown function DUF3669, zinc finger <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
50S ribosomal <strong>proteinstrong> L18Ae/60S ribosomal <strong>proteinstrong> L20 and L18a Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the 50S ribosomal <strong>proteinstrong> L18Ae/60S ribosomal <strong>proteinstrong> L20 and L18a <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Cleft lip and palate transmembrane <strong>proteinstrong> 1-like <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Cleft lip and palate transmembrane <strong>proteinstrong> 1-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Pre-rRNA-processing <strong>proteinstrong> IPI1/Testis-expressed sequence 10 <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Pre-rRNA-processing <strong>proteinstrong> IPI1/Testis-expressed sequence 10 <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Tumor <strong>proteinstrong> p53-inducible <strong>proteinstrong> 11 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Tumor <strong>proteinstrong> p53-inducible <strong>proteinstrong> 11 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
V-set and transmembrane domain-containing <strong>proteinstrong> 2-like <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the V-set and transmembrane domain-containing <strong>proteinstrong> 2-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Actin-related <strong>proteinstrong> 2/3 complex subunit 5-like <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Actin-related <strong>proteinstrong> 2/3 complex subunit 5-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
GTP-binding <strong>proteinstrong> TrmE/Glycine cleavage system T <strong>proteinstrong>, domain 1 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the GTP-binding <strong>proteinstrong> TrmE/Glycine cleavage system T <strong>proteinstrong>, domain 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Insulin-like growth factor binding <strong>proteinstrong>-related <strong>proteinstrong> (IGFBP-rP), MAC25 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Insulin-like growth factor binding <strong>proteinstrong>-related <strong>proteinstrong> (IGFBP-rP), MAC25 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13 domain Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13 domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
EH domain-binding <strong>proteinstrong> 1-like <strong>proteinstrong> 1 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the EH domain-binding <strong>proteinstrong> 1-like <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
SWR1-complex <strong>proteinstrong> 5/Craniofacial development <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the SWR1-complex <strong>proteinstrong> 5/Craniofacial development <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
DMRT/<strong>proteinstrong> doublesex/<strong>proteinstrong> male abnormal 3 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the DMRT/<strong>proteinstrong> doublesex/<strong>proteinstrong> male abnormal 3 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 36, GLUE domain Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 36, GLUE domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Ribosomal <strong>proteinstrong> L7/L12, C-terminal/adaptor <strong>proteinstrong> ClpS-like Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Ribosomal <strong>proteinstrong> L7/L12, C-terminal/adaptor <strong>proteinstrong> ClpS-like <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
UV radiation resistance <strong>proteinstrong>/autophagy-related <strong>proteinstrong> 14 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the UV radiation resistance <strong>proteinstrong>/autophagy-related <strong>proteinstrong> 14 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Four-jointed box <strong>proteinstrong> 1/four-jointed <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Four-jointed box <strong>proteinstrong> 1/four-jointed <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
G <strong>proteinstrong>-coupled receptor kinase-interacting <strong>proteinstrong> 1 C term Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the G <strong>proteinstrong>-coupled receptor kinase-interacting <strong>proteinstrong> 1 C term <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Coiled-coil domain-containing <strong>proteinstrong> 18/Cytoskeletal <strong>proteinstrong> Sojo Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Coiled-coil domain-containing <strong>proteinstrong> 18/Cytoskeletal <strong>proteinstrong> Sojo <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Ribosomal RNA-processing <strong>proteinstrong> 14/surfeit locus <strong>proteinstrong> 6, C-terminal domain Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Ribosomal RNA-processing <strong>proteinstrong> 14/surfeit locus <strong>proteinstrong> 6, C-terminal domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Kinetochore <strong>proteinstrong> Cenp-F/LEK1, Rb <strong>proteinstrong>-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Kinetochore <strong>proteinstrong> Cenp-F/LEK1, Rb <strong>proteinstrong>-binding domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13A N-terminal domain Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13A N-terminal domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
SWR1-complex <strong>proteinstrong> 4/DNA methyltransferase 1-associated <strong>proteinstrong> 1 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the SWR1-complex <strong>proteinstrong> 4/DNA methyltransferase 1-associated <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 26 related Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 26 related <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Tumor <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> 1 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Tumor <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 41 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 41 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Bone morphogenetic <strong>proteinstrong> 1/tolloid-like <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Bone morphogenetic <strong>proteinstrong> 1/tolloid-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Synaptonemal complex <strong>proteinstrong> 2/<strong>proteinstrong> 2-like Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Synaptonemal complex <strong>proteinstrong> 2/<strong>proteinstrong> 2-like <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Sterol regulatory element-binding <strong>proteinstrong> cleavage-activating <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Sterol regulatory element-binding <strong>proteinstrong> cleavage-activating <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Polyadenylate-binding <strong>proteinstrong>/Hyperplastic disc <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Polyadenylate-binding <strong>proteinstrong>/Hyperplastic disc <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Uncharacterised <strong>proteinstrong> family WW domain-binding <strong>proteinstrong> 1 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Uncharacterised <strong>proteinstrong> family WW domain-binding <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Receptor-transporting <strong>proteinstrong>/CXXC-type zinc finger <strong>proteinstrong> 11 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Receptor-transporting <strong>proteinstrong>/CXXC-type zinc finger <strong>proteinstrong> 11 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Receptor tyrosine-<strong>proteinstrong> phosphatase C-associated <strong>proteinstrong> CD45-AP Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Receptor tyrosine-<strong>proteinstrong> phosphatase C-associated <strong>proteinstrong> CD45-AP <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 8, central domain Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 8, central domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Growth arrest/ DNA-damage-inducible <strong>proteinstrong>-interacting <strong>proteinstrong> 1 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Growth arrest/ DNA-damage-inducible <strong>proteinstrong>-interacting <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 16 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 16 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting-associate <strong>proteinstrong> Vta1/Callose synthase, N-terminal domain Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associate <strong>proteinstrong> Vta1/Callose synthase, N-terminal domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Probable cytosolic iron-sulfur <strong>proteinstrong> assembly <strong>proteinstrong>, CIAO1/Cia1 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Probable cytosolic iron-sulfur <strong>proteinstrong> assembly <strong>proteinstrong>, CIAO1/Cia1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Outer membrane <strong>proteinstrong> Iml2/Tetratricopeptide repeat <strong>proteinstrong> 39 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Outer membrane <strong>proteinstrong> Iml2/Tetratricopeptide repeat <strong>proteinstrong> 39 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vesicle-associated membrane <strong>proteinstrong>-associated <strong>proteinstrong> B Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vesicle-associated membrane <strong>proteinstrong>-associated <strong>proteinstrong> B <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vesicle-associated membrane <strong>proteinstrong>-associated <strong>proteinstrong> A Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vesicle-associated membrane <strong>proteinstrong>-associated <strong>proteinstrong> A <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
<strong>Proteinstrong> LIN-9/<strong>Proteinstrong> ALWAYS EARLY Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the <strong>Proteinstrong> LIN-9/<strong>Proteinstrong> ALWAYS EARLY <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Steroid receptor RNA activator-<strong>proteinstrong>/coat <strong>proteinstrong> complex II, Sec31 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Steroid receptor RNA activator-<strong>proteinstrong>/coat <strong>proteinstrong> complex II, Sec31 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 35, Vps35 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 35, Vps35 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Tumor <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> 2 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Tumor <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> 2 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
<strong>Proteinstrong> of unknown function DUF3697, ubiquitin-associated <strong>proteinstrong> 2 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the <strong>Proteinstrong> of unknown function DUF3697, ubiquitin-associated <strong>proteinstrong> 2 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Retinoic acid-induced <strong>proteinstrong> 2/sine oculis-binding <strong>proteinstrong> homologue Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Retinoic acid-induced <strong>proteinstrong> 2/sine oculis-binding <strong>proteinstrong> homologue <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Tetracycline resistance <strong>proteinstrong>, TetA/multidrug resistance <strong>proteinstrong> MdtG Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Tetracycline resistance <strong>proteinstrong>, TetA/multidrug resistance <strong>proteinstrong> MdtG <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
TYRO <strong>proteinstrong> tyrosine kinase-binding <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the TYRO <strong>proteinstrong> tyrosine kinase-binding <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Proline/serine-rich coiled-coil <strong>proteinstrong> 1/G2 and S phase-expressed <strong>proteinstrong> 1 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Proline/serine-rich coiled-coil <strong>proteinstrong> 1/G2 and S phase-expressed <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Usher syndrome type-1C <strong>proteinstrong>-binding <strong>proteinstrong> 1, PDZ domain Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Usher syndrome type-1C <strong>proteinstrong>-binding <strong>proteinstrong> 1, PDZ domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Ribosomal <strong>proteinstrong> L1/ribosomal biogenesis <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Ribosomal <strong>proteinstrong> L1/ribosomal biogenesis <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Actin-related <strong>proteinstrong> 8/Plant actin-related <strong>proteinstrong> 9 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Actin-related <strong>proteinstrong> 8/Plant actin-related <strong>proteinstrong> 9 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Regulator of G-<strong>proteinstrong> signalling 9-binding <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Regulator of G-<strong>proteinstrong> signalling 9-binding <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 11 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 11 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vesicle-associated membrane-<strong>proteinstrong>-associated <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vesicle-associated membrane-<strong>proteinstrong>-associated <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 11, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 11, C-terminal <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 4 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 4 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 1 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 3 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 3 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 2 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 2 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 33 Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 33 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
<strong>Proteinstrong> kinase A anchor <strong>proteinstrong>, nuclear localisation signal domain Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the <strong>Proteinstrong> kinase A anchor <strong>proteinstrong>, nuclear localisation signal domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
Spermatogenesis-associated <strong>proteinstrong> 2-like <strong>proteinstrong> Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the Spermatogenesis-associated <strong>proteinstrong> 2-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
A-kinase anchor <strong>proteinstrong> 6/Centrosomal <strong>proteinstrong> of 68kDa Gene SetFrom InterPro Predicted Protein Domain Annotations <strong>proteinstrong>s predicted to have the A-kinase anchor <strong>proteinstrong> 6/Centrosomal <strong>proteinstrong> of 68kDa <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset. |
PodNet: <strong>proteinstrong>-<strong>proteinstrong> interactions in the podocyte(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 <strong>proteinstrong>s participating in the PodNet: <strong>proteinstrong>-<strong>proteinstrong> interactions in the podocyte(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
XPodNet - <strong>proteinstrong>-<strong>proteinstrong> interactions in the podocyte expanded by STRING(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 <strong>proteinstrong>s participating in the XPodNet - <strong>proteinstrong>-<strong>proteinstrong> interactions in the podocyte expanded by STRING(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
<strong>proteinstrong> transport to vacuole involved in ubiquitin-dependent <strong>proteinstrong> catabolic process via the multivesicular body sorting pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the <strong>proteinstrong> transport to vacuole involved in ubiquitin-dependent <strong>proteinstrong> catabolic process via the multivesicular body sorting pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
<strong>proteinstrong> kinase C-activating G <strong>proteinstrong>-coupled receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the <strong>proteinstrong> kinase C-activating G <strong>proteinstrong>-coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
<strong>proteinstrong> modification by small <strong>proteinstrong> conjugation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation biological process from the curated GO Biological Process Annotations 2023 dataset. |
<strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene SetFrom GO Biological Process Annotations 2023 genes participating in the <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of <strong>proteinstrong> kinase activity by regulation of <strong>proteinstrong> phosphorylation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of <strong>proteinstrong> kinase activity by regulation of <strong>proteinstrong> phosphorylation biological process from the curated GO Biological Process Annotations 2023 dataset. |
<strong>proteinstrong> initiator methionine removal involved in <strong>proteinstrong> maturation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the <strong>proteinstrong> initiator methionine removal involved in <strong>proteinstrong> maturation biological process from the curated GO Biological Process Annotations 2023 dataset. |
<strong>proteinstrong> deubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the <strong>proteinstrong> deubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2023 dataset. |
membrane <strong>proteinstrong> proteolysis involved in retrograde <strong>proteinstrong> transport, ER to cytosol Gene SetFrom GO Biological Process Annotations 2023 genes participating in the membrane <strong>proteinstrong> proteolysis involved in retrograde <strong>proteinstrong> transport, ER to cytosol biological process from the curated GO Biological Process Annotations 2023 dataset. |
<strong>proteinstrong> modification by small <strong>proteinstrong> removal Gene SetFrom GO Biological Process Annotations 2023 genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> removal biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2023 dataset. |
<strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2023 genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2023 dataset. |
<strong>Proteinstrong>-<strong>proteinstrong> interactions at synapses Gene Set<strong>proteinstrong>s participating in the <strong>Proteinstrong>-<strong>proteinstrong> interactions at synapses pathway from the Reactome Pathways 2024 dataset. |
<strong>proteinstrong> transport to vacuole involved in ubiquitin-dependent <strong>proteinstrong> catabolic process via the multivesicular body sorting pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the <strong>proteinstrong> transport to vacuole involved in ubiquitin-dependent <strong>proteinstrong> catabolic process via the multivesicular body sorting pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
<strong>proteinstrong> modification by small <strong>proteinstrong> conjugation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation biological process from the curated GO Biological Process Annotations 2025 dataset. |
<strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene SetFrom GO Biological Process Annotations 2025 genes participating in the <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of <strong>proteinstrong> kinase activity by regulation of <strong>proteinstrong> phosphorylation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of <strong>proteinstrong> kinase activity by regulation of <strong>proteinstrong> phosphorylation biological process from the curated GO Biological Process Annotations 2025 dataset. |
<strong>proteinstrong> deubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the <strong>proteinstrong> deubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2025 dataset. |
membrane <strong>proteinstrong> proteolysis involved in retrograde <strong>proteinstrong> transport, ER to cytosol Gene SetFrom GO Biological Process Annotations 2025 genes participating in the membrane <strong>proteinstrong> proteolysis involved in retrograde <strong>proteinstrong> transport, ER to cytosol biological process from the curated GO Biological Process Annotations 2025 dataset. |
<strong>proteinstrong> modification by small <strong>proteinstrong> removal Gene SetFrom GO Biological Process Annotations 2025 genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> removal biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2025 dataset. |
<strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene SetFrom GO Biological Process Annotations 2025 genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2025 dataset. |
Bifunctional peroxisomal enzyme deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked ichthyosis with steryl-sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoglycerate dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Galactosylceramide beta-galactosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated 17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Endplate acetylcholinesterase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sepiapterin reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methionine adenosyltransferase deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carbonic anhydrase va deficiency, hyperammonemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ribose-5-phosphate isomerase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kininogen deficiency, total Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
N-terminal acetyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Creatine deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birbeck granule deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SCID due to ADA deficiency, delayed onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Properdin deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor d deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonyl-CoA epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 8 deficiency type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testosterone 17-beta-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acyl-CoA dehydrogenase family, member 9, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of isobutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral folate deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoserine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine acylcarnitine translocase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinyl-CoA acetoacetate transferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
HNSHA due to aldolase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-activating factor acetylhydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipase deficiency combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
5-Oxoprolinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency with achalasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proopiomelanocortin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrinsic factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
21-hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutaryl-CoA oxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thiopurine methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase II deficiency, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lactate dehydrogenase b deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen deficiency, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Biotinidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Biotinidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant isolated somatotropin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypohidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of phosphoserine phosphatase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated growth hormone deficiency type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anhidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hyaluronoglucosaminidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sulfite oxidase deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen activator inhibitor type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monoamine oxidase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor V deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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 glyco<strong>proteinstrong> IV deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet glyco<strong>proteinstrong> 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. |
Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocysteinemia due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of pyrroline-5-carboxylate reductase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to ficolin 3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sarcosine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor v and factor viii, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branched-chain ketoacid dehydrogenase kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
L-ferritin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arginase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hepatic lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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-feto<strong>proteinstrong> deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha-feto<strong>proteinstrong> 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. |
Apolipo<strong>proteinstrong> a-i deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Apolipo<strong>proteinstrong> 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. |
Pyruvate kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methionine adenosyltransferase deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscle AMP deaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropyrimidinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dimethylglycine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hydroxymethylglutaryl-CoA lyase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-alpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isovaleryl-CoA dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd59 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ferroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of steroid 11-beta-monooxygenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lysosomal acid lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dopamine beta hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UDPglucose-4-epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of alpha-mannosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-like growth factor I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate carboxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gluthathione synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fumarase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of transaldolase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial pyruvate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-beta deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MASP2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Argininosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prekallikrein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chitotriosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chitotriosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prothrombin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GTP cyclohydrolase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of malonyl-CoA decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 beta-Hydroxysteroid dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinate-semialdehyde dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked agammaglobulinemia with growth hormone deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Okt4 epitope deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of acetyl-CoA acetyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mineralocorticoid deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement 1s deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropteridine reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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. |
Deficiency of aromatic-L-amino-acid decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycine N-methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine carbamoyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sucrase-isomaltase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cholesterol monooxygenase (side-chain cleaving) deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fucosyltransferase 6 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Asparagine synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylate kinase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyrylcholine esterase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Platelet Glyco<strong>proteinstrong> IV Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Platelet Glyco<strong>proteinstrong> IV Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Phosphate Carrier Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Prekallikrein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylenetetrahydrofolate reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease IgA Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lipase deficiency combined Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset. |
Enterokinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset. |
Transaldolase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylcobalamin Deficiency, CblG Type Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset. |
VLCAD deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset. |
18-Hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
3-methylcrotonyl CoA carboxylase 2 deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset. |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase E2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoglycerate Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase Complex Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Ataxia with vitamin E deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset. |
Aromatic amino acid decarboxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor X Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Trehalase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Guanidinoacetate methyltransferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset. |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset. |
Fructose-1,6-Diphosphatase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Prolidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Dihydropyrimidinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Deficiency Diseases Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Deficiency Diseases from the curated CTD Gene-Disease Associations dataset. |
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Myeloperoxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Sulfite oxidase deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Kinase Deficiency of Red Cells Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset. |
Factor VII Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease IRAK4 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Butyrylcholinesterase deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Gamma aminobutyric acid transaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Carboxylase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Pyruvate Carboxylase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Complement Component 6 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Factor XII Deficiency from the curated CTD Gene-Disease Associations dataset. |
Aromatase deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Aromatase deficiency from the curated CTD Gene-Disease Associations dataset. |
Urocanase deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s associated with the disease Urocanase deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoserine Aminotransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s 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/<strong>proteinstrong>s associated with the disease Immunologic Deficiency Syndromes from the curated CTD Gene-Disease Associations dataset. |
systemic primary carnitine deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
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. |
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. |
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. |
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 lipo<strong>proteinstrong> lipase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial lipo<strong>proteinstrong> 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 lipo<strong>proteinstrong> lipase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial lipo<strong>proteinstrong> 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. |
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. |
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. |
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. |
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. |