Name

f12 plasma deficiency, moderate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease f12 plasma deficiency, moderate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

f12 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term f12 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

F12 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for F12 from the Pathway Commons Protein-Protein Interactions dataset.

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

From GAD Gene-Disease Associations

genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

optic atrophy and moderate deafness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease optic atrophy and moderate deafness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

moderates Gene Set

From GeneRIF Biological Term Annotations

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

moderated Gene Set

From GeneRIF Biological Term Annotations

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

moderatefat Gene Set

From GeneRIF Biological Term Annotations

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

moderatetosevere Gene Set

From GeneRIF Biological Term Annotations

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

moderatelywelldifferentiated Gene Set

From GeneRIF Biological Term Annotations

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

moderate Gene Set

From GeneRIF Biological Term Annotations

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

moderatetoadvanced Gene Set

From GeneRIF Biological Term Annotations

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

moderately Gene Set

From GeneRIF Biological Term Annotations

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

moderateintensity Gene Set

From GeneRIF Biological Term Annotations

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

moderatelydifferentiated Gene Set

From GeneRIF Biological Term Annotations

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

moderatestrong Gene Set

From GeneRIF Biological Term Annotations

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

moderatetostrong Gene Set

From GeneRIF Biological Term Annotations

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

moderatelyoxldl Gene Set

From GeneRIF Biological Term Annotations

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

moderateaffinity Gene Set

From GeneRIF Biological Term Annotations

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

moderatesevere Gene Set

From GeneRIF Biological Term Annotations

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

Chronic obstructive pulmonary disease (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

moderate generalized osteoporosis Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the moderate generalized osteoporosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

moderately short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the moderately short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

intellectual disability, moderate Gene Set

From HPO Gene-Disease Associations

genes associated with the intellectual disability, moderate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

moderate global developmental delay Gene Set

From HPO Gene-Disease Associations

genes associated with the moderate global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

combined immunodeficiency, x-linked, moderate Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined immunodeficiency, x-linked, moderate phenotype from the curated OMIM Gene-Disease Associations dataset.

plasma fibronectin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the plasma fibronectin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.

eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

protein c deficiency; protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

plasma membrane part Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the plasma membrane part cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

basal plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the basal plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

anchored component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the anchored component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of the cytoplasmic side of the plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of the cytoplasmic side of the plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

plasma lipoprotein particle Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the plasma lipoprotein particle cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

anchored component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the anchored component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

protein c inhibitor-plasma kallikrein complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the protein c inhibitor-plasma kallikrein complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

apicolateral plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the apicolateral plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

spanning component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the spanning component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of cytoplasmic side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of cytoplasmic side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

plasma membrane region Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the plasma membrane region cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

apical plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the apical plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

plasma membrane raft Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the plasma membrane raft cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

basolateral plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the basolateral plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytoplasmic side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytoplasmic side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

lateral plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the lateral plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

plasma membrane Gene Set

From COMPARTMENTS Experimental Protein Localization Evidence Scores

proteins localized to the plasma membrane cellular component in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.

plasma membrane part Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

basal plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the basal plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane-derived chromatophore Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane-derived chromatophore cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

anchored component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the anchored component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

yolk plasma Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

plasma lipoprotein particle Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma lipoprotein particle cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane respiratory chain Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane respiratory chain cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

apicolateral plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the apicolateral plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

spanning component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the spanning component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

intrinsic component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the intrinsic component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

integral component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the integral component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

extrinsic component of cytoplasmic side of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the extrinsic component of cytoplasmic side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane region Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane region cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

extrinsic component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the extrinsic component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

apical plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the apical plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane raft Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane raft cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane-derived chromatophore membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane-derived chromatophore membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane light-harvesting complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

basolateral plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the basolateral plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cytoplasmic side of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytoplasmic side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

lateral plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the lateral plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

external side of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the external side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

Leukemia, Plasma Cell Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukemia, Plasma Cell from the curated CTD Gene-Disease Associations dataset.

Granuloma, Plasma Cell Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granuloma, Plasma Cell from the curated CTD Gene-Disease Associations dataset.

ZINC, ELEVATED PLASMA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ZINC, ELEVATED PLASMA from the curated CTD Gene-Disease Associations dataset.

Plasma Cell Granuloma, Pulmonary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasma Cell Granuloma, Pulmonary from the curated CTD Gene-Disease Associations dataset.

VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 from the curated CTD Gene-Disease Associations dataset.

Serotonin Plasma Membrane Transport Proteins Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Serotonin Plasma Membrane Transport Proteins in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

plasma protein metabolism disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease plasma protein metabolism disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

pulmonary plasma cell granuloma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease pulmonary plasma cell granuloma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

plasma protein metabolism disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

orbital plasma cell granuloma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease orbital plasma cell granuloma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

plasma cell neoplasm Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

plasma il6 levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma il6 levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood pressure; aldosterone; glomerular filtration rate; renal plasma flow Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood pressure; aldosterone; glomerular filtration rate; renal plasma flow in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma no metabolite levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma no metabolite levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma caffeine metabolite ratio Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma caffeine metabolite ratio in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

reduced gene expression and lower plasma levels of beta2-glycoprotein i Gene Set

From GAD Gene-Disease Associations

genes associated with the disease reduced gene expression and lower plasma levels of beta2-glycoprotein i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma vwf Gene Set

From GAD Gene-Disease Associations

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

plasma homocysteine level Gene Set

From GAD Gene-Disease Associations

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

low plasma levels of factor viic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease low plasma levels of factor viic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma glucose levels Gene Set

From GAD Gene-Disease Associations

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

plasma endothelin-1 levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma endothelin-1 levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma glucose, basal hepatic glucose and increased insulin release Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma glucose, basal hepatic glucose and increased insulin release in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

reduced plasma concentrations of repaglinide Gene Set

From GAD Gene-Disease Associations

genes associated with the disease reduced plasma concentrations of repaglinide in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma high density lipoprotein cholesterol and apolipoprotein ai Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma high density lipoprotein cholesterol and apolipoprotein ai in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

high plasma concentrations of high density lipoprotein ch Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high plasma concentrations of high density lipoprotein ch in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma chemerin levels Gene Set

From GAD Gene-Disease Associations

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

high plasma cetp activity. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high plasma cetp activity. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lipoproteins Gene Set

From GAD Gene-Disease Associations

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

plasma lipid levels Gene Set

From GAD Gene-Disease Associations

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

increased plasma triglyceride levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased plasma triglyceride levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma fibrinogen levels Gene Set

From GAD Gene-Disease Associations

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

plasma total homocysteine and folate concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma total homocysteine and folate concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

differential plasma lipoprotein response to simvastatin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease differential plasma lipoprotein response to simvastatin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

specific levels of lp(a) in plasma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease specific levels of lp(a) in plasma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma folate Gene Set

From GAD Gene-Disease Associations

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

fasting plasma insulin levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fasting plasma insulin levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fasting plasma glucose Gene Set

From GAD Gene-Disease Associations

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

plasma protein c levels and thrombotic risk Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma protein c levels and thrombotic risk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma eosinophil count Gene Set

From GAD Gene-Disease Associations

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

increased interleukin-10 (il-10) plasma levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased interleukin-10 (il-10) plasma levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

high plasma factor viii: c levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high plasma factor viii: c levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

high interleukin-1 beta plasma levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high interleukin-1 beta plasma levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma triglyceride and c-reactive protein, fasting glucose Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma triglyceride and c-reactive protein, fasting glucose in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma hdl-c levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma hdl-c levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma coagulation factors Gene Set

From GAD Gene-Disease Associations

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

plasma homocysteine Gene Set

From GAD Gene-Disease Associations

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

plasma apob and low density lipoprotein (ldl) cholesterol levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma apob and low density lipoprotein (ldl) cholesterol levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma folate vitamin b12 homocyst(e)ine and colorectal cancer risk Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma folate vitamin b12 homocyst(e)ine and colorectal cancer risk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

imipramine plasma concentrations Gene Set

From GAD Gene-Disease Associations

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

plasma lipid and apolipoprotein levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma lipid and apolipoprotein levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

serotonin plasma membrane transport proteins Gene Set

From GAD Gene-Disease Associations

genes associated with the disease serotonin plasma membrane transport proteins in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haloperidol, plasma Gene Set

From GAD Gene-Disease Associations

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

coronary artery disease. plasma lipoproteins. and longevity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease. plasma lipoproteins. and longevity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma cholesterol levels and drug response Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma cholesterol levels and drug response in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma renin and prorenin levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma renin and prorenin levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lipid levels and body mass index Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma lipid levels and body mass index in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma fibrinogen levels in smokers and non-smokers Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma fibrinogen levels in smokers and non-smokers in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma concentrations of carvedilol Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma concentrations of carvedilol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lp (a) levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma lp (a) levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma c4b binding protein levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma c4b binding protein levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lipoprotein(a) levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma lipoprotein(a) levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease and plasma soluble thrombomodulin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease and plasma soluble thrombomodulin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma concentrations of fluoxetine and paroxetine Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma concentrations of fluoxetine and paroxetine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abt-773 plasma levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abt-773 plasma levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma cholesterol levels and body mass index Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma cholesterol levels and body mass index in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma high-density lipoprotein cholesterol levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma high-density lipoprotein cholesterol levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aalpha and gamma fibrinogen plasma levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aalpha and gamma fibrinogen plasma levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma levels of liver enzymes Gene Set

From GAD Gene-Disease Associations

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

plasma factor xiii Gene Set

From GAD Gene-Disease Associations

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

igf1 plasma level Gene Set

From GAD Gene-Disease Associations

genes associated with the disease igf1 plasma level in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lower plasma triglyceride levels and increased promoter activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lower plasma triglyceride levels and increased promoter activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

circadian variability in plasma pai-1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease circadian variability in plasma pai-1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma total and ldl-apolipoprotein b Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma total and ldl-apolipoprotein b in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

clozapine plasma levels Gene Set

From GAD Gene-Disease Associations

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

plasma cell myeloma Gene Set

From GAD Gene-Disease Associations

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

coronary heart disease and plasma lipid levels. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary heart disease and plasma lipid levels. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid in plasma and red blood cell folate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid in plasma and red blood cell folate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

decreased blood pressure and plasma triglycerides Gene Set

From GAD Gene-Disease Associations

genes associated with the disease decreased blood pressure and plasma triglycerides in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma resistin levels Gene Set

From GAD Gene-Disease Associations

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

cholesteryl ester transfer protein plasma lipid levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholesteryl ester transfer protein plasma lipid levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lipoproteins and plasma lipids Gene Set

From GAD Gene-Disease Associations

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

plasma factor vii activity and antigen levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma factor vii activity and antigen levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma hdl cholesterol (hdl-c) levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma hdl cholesterol (hdl-c) levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

increased plasma concentrations of total cholesterol Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased plasma concentrations of total cholesterol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma protein c levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma protein c levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

elevated plasma prothrombin levels and an increase Gene Set

From GAD Gene-Disease Associations

genes associated with the disease elevated plasma prothrombin levels and an increase in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma il-6 levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma il-6 levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lipid traits Gene Set

From GAD Gene-Disease Associations

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

plasma adiponectin level Gene Set

From GAD Gene-Disease Associations

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

plasma antigen levels of plasminogen activator inhibitor-1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma antigen levels of plasminogen activator inhibitor-1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

increased plasma leptin levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased plasma leptin levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma levels of homocysteine Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma levels of homocysteine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

variation in plasma lipoproteins Gene Set

From GAD Gene-Disease Associations

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

plasma apolipoprotein ai (apoai) and high-density lipoprotein cholesterol (hdl) levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma apolipoprotein ai (apoai) and high-density lipoprotein cholesterol (hdl) levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma prothrombin levels Gene Set

From GAD Gene-Disease Associations

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

plasma carotenoid and tocopherol levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma carotenoid and tocopherol levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

interleukin-6 plasma level Gene Set

From GAD Gene-Disease Associations

genes associated with the disease interleukin-6 plasma level in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma homocysteine levels Gene Set

From GAD Gene-Disease Associations

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

plasma glucose concentration Gene Set

From GAD Gene-Disease Associations

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

quantitative variation in plasma high-density lipoproteins and triacylglycerides Gene Set

From GAD Gene-Disease Associations

genes associated with the disease quantitative variation in plasma high-density lipoproteins and triacylglycerides in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma level of vitamin b12 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma level of vitamin b12 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lipoprotein traits Gene Set

From GAD Gene-Disease Associations

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

plasma hdl-cholesterol Gene Set

From GAD Gene-Disease Associations

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

plasma Gene Set

From GeneRIF Biological Term Annotations

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

Osteolysis_Leukocyte - Lymphocyte - B-Lymphocyte - Plasma Cell (MMHCC)_GSE755 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Osteolysis_Leukocyte - Lymphocyte - B-Lymphocyte - Plasma Cell (MMHCC)_GSE755 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

protein localization to plasma membrane raft Gene Set

From GO Biological Process Annotations

genes participating in the protein localization to plasma membrane raft biological process from the curated GO Biological Process Annotations dataset.

import across plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the import across plasma membrane biological process from the curated GO Biological Process Annotations dataset.

positive regulation of syncytium formation by plasma membrane fusion Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of syncytium formation by plasma membrane fusion biological process from the curated GO Biological Process Annotations dataset.

positive regulation of establishment of protein localization to plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of establishment of protein localization to plasma membrane biological process from the curated GO Biological Process Annotations dataset.

regulation of establishment of protein localization to plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the regulation of establishment of protein localization to plasma membrane biological process from the curated GO Biological Process Annotations dataset.

golgi to plasma membrane cftr protein transport Gene Set

From GO Biological Process Annotations

genes participating in the golgi to plasma membrane cftr protein transport biological process from the curated GO Biological Process Annotations dataset.

golgi to plasma membrane transport Gene Set

From GO Biological Process Annotations

genes participating in the golgi to plasma membrane transport biological process from the curated GO Biological Process Annotations dataset.

plasma membrane long-chain fatty acid transport Gene Set

From GO Biological Process Annotations

genes participating in the plasma membrane long-chain fatty acid transport biological process from the curated GO Biological Process Annotations dataset.

plasma membrane raft organization Gene Set

From GO Biological Process Annotations

genes participating in the plasma membrane raft organization biological process from the curated GO Biological Process Annotations dataset.

retrograde transport, endosome to plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the retrograde transport, endosome to plasma membrane biological process from the curated GO Biological Process Annotations dataset.

regulation of plasma cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of plasma cell differentiation biological process from the curated GO Biological Process Annotations dataset.

cell-cell adhesion via plasma-membrane adhesion molecules Gene Set

From GO Biological Process Annotations

genes participating in the cell-cell adhesion via plasma-membrane adhesion molecules biological process from the curated GO Biological Process Annotations dataset.

regulation of protein localization to plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the regulation of protein localization to plasma membrane biological process from the curated GO Biological Process Annotations dataset.

negative regulation of golgi to plasma membrane protein transport Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of golgi to plasma membrane protein transport biological process from the curated GO Biological Process Annotations dataset.

negative regulation of protein localization to plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of protein localization to plasma membrane biological process from the curated GO Biological Process Annotations dataset.

l-ornithine import across plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the l-ornithine import across plasma membrane biological process from the curated GO Biological Process Annotations dataset.

plasma lipoprotein particle assembly Gene Set

From GO Biological Process Annotations

genes participating in the plasma lipoprotein particle assembly biological process from the curated GO Biological Process Annotations dataset.

activation of plasma proteins involved in acute inflammatory response Gene Set

From GO Biological Process Annotations

genes participating in the activation of plasma proteins involved in acute inflammatory response biological process from the curated GO Biological Process Annotations dataset.

positive regulation of golgi to plasma membrane protein transport Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of golgi to plasma membrane protein transport biological process from the curated GO Biological Process Annotations dataset.

potassium ion import across plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the potassium ion import across plasma membrane biological process from the curated GO Biological Process Annotations dataset.

regulation of golgi to plasma membrane protein transport Gene Set

From GO Biological Process Annotations

genes participating in the regulation of golgi to plasma membrane protein transport biological process from the curated GO Biological Process Annotations dataset.

retrograde transport, plasma membrane to golgi Gene Set

From GO Biological Process Annotations

genes participating in the retrograde transport, plasma membrane to golgi biological process from the curated GO Biological Process Annotations dataset.

negative regulation of plasma lipoprotein particle oxidation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of plasma lipoprotein particle oxidation biological process from the curated GO Biological Process Annotations dataset.

heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules Gene Set

From GO Biological Process Annotations

genes participating in the heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules biological process from the curated GO Biological Process Annotations dataset.

calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Gene Set

From GO Biological Process Annotations

genes participating in the calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules biological process from the curated GO Biological Process Annotations dataset.

calcium ion import across plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the calcium ion import across plasma membrane biological process from the curated GO Biological Process Annotations dataset.

regulation of plasma membrane organization Gene Set

From GO Biological Process Annotations

genes participating in the regulation of plasma membrane organization biological process from the curated GO Biological Process Annotations dataset.

sodium ion import across plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the sodium ion import across plasma membrane biological process from the curated GO Biological Process Annotations dataset.

negative regulation of establishment of protein localization to plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of establishment of protein localization to plasma membrane biological process from the curated GO Biological Process Annotations dataset.

regulation of plasma membrane long-chain fatty acid transport Gene Set

From GO Biological Process Annotations

genes participating in the regulation of plasma membrane long-chain fatty acid transport biological process from the curated GO Biological Process Annotations dataset.

protein targeting to plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the protein targeting to plasma membrane biological process from the curated GO Biological Process Annotations dataset.

regulation of plasma lipoprotein particle levels Gene Set

From GO Biological Process Annotations

genes participating in the regulation of plasma lipoprotein particle levels biological process from the curated GO Biological Process Annotations dataset.

plasma lipoprotein particle organization Gene Set

From GO Biological Process Annotations

genes participating in the plasma lipoprotein particle organization biological process from the curated GO Biological Process Annotations dataset.

cytoskeletal anchoring at plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the cytoskeletal anchoring at plasma membrane biological process from the curated GO Biological Process Annotations dataset.

negative regulation of syncytium formation by plasma membrane fusion Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of syncytium formation by plasma membrane fusion biological process from the curated GO Biological Process Annotations dataset.

positive regulation of potassium ion export across plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of potassium ion export across plasma membrane biological process from the curated GO Biological Process Annotations dataset.

maintenance of protein location in plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the maintenance of protein location in plasma membrane biological process from the curated GO Biological Process Annotations dataset.

positive regulation of protein localization to plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of protein localization to plasma membrane biological process from the curated GO Biological Process Annotations dataset.

plasma cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the plasma cell differentiation biological process from the curated GO Biological Process Annotations dataset.

fusion of sperm to egg plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the fusion of sperm to egg plasma membrane biological process from the curated GO Biological Process Annotations dataset.

l-arginine import across plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the l-arginine import across plasma membrane biological process from the curated GO Biological Process Annotations dataset.

plasma membrane raft assembly Gene Set

From GO Biological Process Annotations

genes participating in the plasma membrane raft assembly biological process from the curated GO Biological Process Annotations dataset.

potassium ion export across plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the potassium ion export across plasma membrane biological process from the curated GO Biological Process Annotations dataset.

regulation of plasma lipoprotein particle oxidation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of plasma lipoprotein particle oxidation biological process from the curated GO Biological Process Annotations dataset.

plasma membrane fusion Gene Set

From GO Biological Process Annotations

genes participating in the plasma membrane fusion biological process from the curated GO Biological Process Annotations dataset.

fusion of virus membrane with host plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the fusion of virus membrane with host plasma membrane biological process from the curated GO Biological Process Annotations dataset.

plasma lipoprotein particle clearance Gene Set

From GO Biological Process Annotations

genes participating in the plasma lipoprotein particle clearance biological process from the curated GO Biological Process Annotations dataset.

plasma membrane lactate transport Gene Set

From GO Biological Process Annotations

genes participating in the plasma membrane lactate transport biological process from the curated GO Biological Process Annotations dataset.

calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules Gene Set

From GO Biological Process Annotations

genes participating in the calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules biological process from the curated GO Biological Process Annotations dataset.

syncytium formation by plasma membrane fusion Gene Set

From GO Biological Process Annotations

genes participating in the syncytium formation by plasma membrane fusion biological process from the curated GO Biological Process Annotations dataset.

plasma membrane to endosome transport Gene Set

From GO Biological Process Annotations

genes participating in the plasma membrane to endosome transport biological process from the curated GO Biological Process Annotations dataset.

homophilic cell adhesion via plasma membrane adhesion molecules Gene Set

From GO Biological Process Annotations

genes participating in the homophilic cell adhesion via plasma membrane adhesion molecules biological process from the curated GO Biological Process Annotations dataset.

protein localization to plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the protein localization to plasma membrane biological process from the curated GO Biological Process Annotations dataset.

plasma kallikrein-kinin cascade Gene Set

From GO Biological Process Annotations

genes participating in the plasma kallikrein-kinin cascade biological process from the curated GO Biological Process Annotations dataset.

positive regulation of plasma cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of plasma cell differentiation biological process from the curated GO Biological Process Annotations dataset.

plasma membrane repair Gene Set

From GO Biological Process Annotations

genes participating in the plasma membrane repair biological process from the curated GO Biological Process Annotations dataset.

regulation of potassium ion export across plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the regulation of potassium ion export across plasma membrane biological process from the curated GO Biological Process Annotations dataset.

protein transport into plasma membrane raft Gene Set

From GO Biological Process Annotations

genes participating in the protein transport into plasma membrane raft biological process from the curated GO Biological Process Annotations dataset.

golgi to plasma membrane protein transport Gene Set

From GO Biological Process Annotations

genes participating in the golgi to plasma membrane protein transport biological process from the curated GO Biological Process Annotations dataset.

regulation of fusion of sperm to egg plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the regulation of fusion of sperm to egg plasma membrane biological process from the curated GO Biological Process Annotations dataset.

regulation of golgi to plasma membrane cftr protein transport Gene Set

From GO Biological Process Annotations

genes participating in the regulation of golgi to plasma membrane cftr protein transport biological process from the curated GO Biological Process Annotations dataset.

negative regulation of golgi to plasma membrane cftr protein transport Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of golgi to plasma membrane cftr protein transport biological process from the curated GO Biological Process Annotations dataset.

amino acid import across plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the amino acid import across plasma membrane biological process from the curated GO Biological Process Annotations dataset.

protein localization to basolateral plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the protein localization to basolateral plasma membrane biological process from the curated GO Biological Process Annotations dataset.

establishment of protein localization to plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the establishment of protein localization to plasma membrane biological process from the curated GO Biological Process Annotations dataset.

plasma membrane copper ion transport Gene Set

From GO Biological Process Annotations

genes participating in the plasma membrane copper ion transport biological process from the curated GO Biological Process Annotations dataset.

plasma lipoprotein particle remodeling Gene Set

From GO Biological Process Annotations

genes participating in the plasma lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations dataset.

plasma lipoprotein particle oxidation Gene Set

From GO Biological Process Annotations

genes participating in the plasma lipoprotein particle oxidation biological process from the curated GO Biological Process Annotations dataset.

regulation of syncytium formation by plasma membrane fusion Gene Set

From GO Biological Process Annotations

genes participating in the regulation of syncytium formation by plasma membrane fusion biological process from the curated GO Biological Process Annotations dataset.

positive regulation of plasma membrane long-chain fatty acid transport Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of plasma membrane long-chain fatty acid transport biological process from the curated GO Biological Process Annotations dataset.

negative regulation of plasma membrane long-chain fatty acid transport Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of plasma membrane long-chain fatty acid transport biological process from the curated GO Biological Process Annotations dataset.

plasma membrane organization Gene Set

From GO Biological Process Annotations

genes participating in the plasma membrane organization biological process from the curated GO Biological Process Annotations dataset.

l-lysine import across plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the l-lysine import across plasma membrane biological process from the curated GO Biological Process Annotations dataset.

plasma membrane part Gene Set

From GO Cellular Component Annotations

proteins localized to the plasma membrane part cellular component from the curated GO Cellular Component Annotations dataset.

basal plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the basal plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

anchored component of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the anchored component of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

protein c inhibitor-plasma kallikrein complex Gene Set

From GO Cellular Component Annotations

proteins localized to the protein c inhibitor-plasma kallikrein complex cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of the cytoplasmic side of the plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of the cytoplasmic side of the plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

plasma lipoprotein particle Gene Set

From GO Cellular Component Annotations

proteins localized to the plasma lipoprotein particle cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of cytoplasmic side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of cytoplasmic side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

apicolateral plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the apicolateral plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

spanning component of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the spanning component of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

plasma membrane respiratory chain complex i Gene Set

From GO Cellular Component Annotations

proteins localized to the plasma membrane respiratory chain complex i cellular component from the curated GO Cellular Component Annotations dataset.

plasma membrane region Gene Set

From GO Cellular Component Annotations

proteins localized to the plasma membrane region cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

apical plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the apical plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

plasma membrane raft Gene Set

From GO Cellular Component Annotations

proteins localized to the plasma membrane raft cellular component from the curated GO Cellular Component Annotations dataset.

anchored component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the anchored component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

basolateral plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the basolateral plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

cytoplasmic side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the cytoplasmic side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

lateral plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the lateral plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Fasting plasma glucose Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Fasting plasma glucose phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Stearic acid (18:0) plasma levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Stearic acid (18:0) plasma levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Circulating myeloperoxidase levels (plasma) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Circulating myeloperoxidase levels (plasma) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Beta-2 microglubulin plasma levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Beta-2 microglubulin plasma levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma thyroid-stimulating hormone levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma thyroid-stimulating hormone levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Estradiol plasma levels (breast cancer) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Estradiol plasma levels (breast cancer) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma amyloid beta peptide concentrations (ABx-42) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma amyloid beta peptide concentrations (ABx-42) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Palmitoleic acid (16:1n-7) plasma levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Palmitoleic acid (16:1n-7) plasma levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Phospholipid levels (plasma) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Phospholipid levels (plasma) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Oleic acid (18:1n-9) plasma levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Oleic acid (18:1n-9) plasma levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

β2-Glycoprotein I (β2-GPI) plasma levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the β2-Glycoprotein I (β2-GPI) plasma levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma homocysteine levels (post-methionine load test) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma homocysteine levels (post-methionine load test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Palmitic acid (16:0) plasma levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Palmitic acid (16:0) plasma levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma amyloid beta peptide concentrations (ABx-40) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma amyloid beta peptide concentrations (ABx-40) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma plasminogen activator levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma plasminogen activator levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

low plasma citrulline Gene Set

From HPO Gene-Disease Associations

genes associated with the low plasma citrulline phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased plasma total carnitine Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased plasma total carnitine phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

elevated plasma branched chain amino acids Gene Set

From HPO Gene-Disease Associations

genes associated with the elevated plasma branched chain amino acids phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased plasma carnitine Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased plasma carnitine phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased plasma free carnitine Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased plasma free carnitine phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

elevated plasma citrulline Gene Set

From HPO Gene-Disease Associations

genes associated with the elevated plasma citrulline phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

elevated plasma pyrophosphate Gene Set

From HPO Gene-Disease Associations

genes associated with the elevated plasma pyrophosphate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Leukemia, Plasma Cell Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Leukemia, Plasma Cell phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Peptidase M43, pregnancy-associated plasma-A Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase M43, pregnancy-associated plasma-A protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Plasma membrane calcium-transporting ATPase 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Plasma membrane calcium-transporting ATPase 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Plasma membrane calcium-transporting ATPase 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Plasma membrane calcium-transporting ATPase 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Plasma membrane calcium-transporting ATPase 4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Plasma membrane calcium-transporting ATPase 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Plasma membrane calcium-transporting ATPase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Plasma membrane calcium-transporting ATPase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Plasma alpha-L-fucosidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Plasma alpha-L-fucosidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Plasma membrane calcium transporting P-type ATPase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Plasma membrane calcium transporting P-type ATPase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Plasma protease C1 inhibitor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Plasma protease C1 inhibitor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

apical plasma membrane Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the apical plasma membrane cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

plasma membrane Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the plasma membrane cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

plasma membrane part Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the plasma membrane part cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

basolateral plasma membrane Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the basolateral plasma membrane cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

plasma membrane region Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the plasma membrane region cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

abnormal plasma membrane morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal plasma membrane morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal plasma cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal plasma cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased plasma cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased plasma cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal plasma membrane sphingolipid content Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal plasma membrane sphingolipid content phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal renal plasma flow rate Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal renal plasma flow rate phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal plasma anion gap Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal plasma anion gap phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased plasma membrane sphingolipid content Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased plasma membrane sphingolipid content phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal plasma cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal plasma cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased plasma cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased plasma cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent plasma cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent plasma cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased renal plasma flow rate Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased renal plasma flow rate phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased plasma anion gap Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased plasma anion gap phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal long lived plasma cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal long lived plasma cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased renal plasma flow rate Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased renal plasma flow rate phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal plasma cell differentiation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal plasma cell differentiation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

plasma triglyceride level qtl, low Gene Set

From OMIM Gene-Disease Associations

genes associated with the plasma triglyceride level qtl, low phenotype from the curated OMIM Gene-Disease Associations dataset.

{alkaline phosphatase, plasma level of, qtl4} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {alkaline phosphatase, plasma level of, qtl4} phenotype from the curated OMIM Gene-Disease Associations dataset.

[dopamine-beta-hydroxylase activity levels, plasma] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [dopamine-beta-hydroxylase activity levels, plasma] phenotype from the curated OMIM Gene-Disease Associations dataset.

[fasting plasma glucose level qtl 5] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [fasting plasma glucose level qtl 5] phenotype from the curated OMIM Gene-Disease Associations dataset.

[fasting plasma glucose level qtl 4] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [fasting plasma glucose level qtl 4] phenotype from the curated OMIM Gene-Disease Associations dataset.

[fasting plasma glucose level qtl 6] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [fasting plasma glucose level qtl 6] phenotype from the curated OMIM Gene-Disease Associations dataset.

{vitamin b12 plasma level qtl1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {vitamin b12 plasma level qtl1} phenotype from the curated OMIM Gene-Disease Associations dataset.

[fasting plasma glucose level qtl 2] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [fasting plasma glucose level qtl 2] phenotype from the curated OMIM Gene-Disease Associations dataset.

[polyunsaturated fatty acids plasma level qtl1] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [polyunsaturated fatty acids plasma level qtl1] phenotype from the curated OMIM Gene-Disease Associations dataset.

{vitamin b6 plasma level qtl 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {vitamin b6 plasma level qtl 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

homocysteine plasma level Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocysteine plasma level phenotype from the curated OMIM Gene-Disease Associations dataset.

[plasma glucose, 2-hour, qtl 2] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [plasma glucose, 2-hour, qtl 2] phenotype from the curated OMIM Gene-Disease Associations dataset.

{alkaline phosphatase, plasma level of, qtl1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {alkaline phosphatase, plasma level of, qtl1} phenotype from the curated OMIM Gene-Disease Associations dataset.

[plasma glucose, 2-hour, qtl 1] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [plasma glucose, 2-hour, qtl 1] phenotype from the curated OMIM Gene-Disease Associations dataset.

{alkaline phosphatase, plasma level of, qtl3} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {alkaline phosphatase, plasma level of, qtl3} phenotype from the curated OMIM Gene-Disease Associations dataset.

[fasting plasma glucose level qtl 1] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [fasting plasma glucose level qtl 1] phenotype from the curated OMIM Gene-Disease Associations dataset.

[fasting plasma glucose level qtl 3] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [fasting plasma glucose level qtl 3] phenotype from the curated OMIM Gene-Disease Associations dataset.

homocysteine, total plasma, elevated Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocysteine, total plasma, elevated phenotype from the curated OMIM Gene-Disease Associations dataset.

{alkaline phosphatase, plasma level of, qtl 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {alkaline phosphatase, plasma level of, qtl 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

plasma Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term plasma in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Plasma membrane estrogen receptor signaling Gene Set

From PID Pathways

proteins participating in the Plasma membrane estrogen receptor signaling pathway from the PID Pathways dataset.

Transport of connexons to the plasma membrane Gene Set

From Reactome Pathways

proteins participating in the Transport of connexons to the plasma membrane pathway from the Reactome Pathways dataset.

Synthesis of PIPs at the plasma membrane Gene Set

From Reactome Pathways

proteins participating in the Synthesis of PIPs at the plasma membrane pathway from the Reactome Pathways dataset.

Translocation of GLUT4 to the plasma membrane Gene Set

From Reactome Pathways

proteins participating in the Translocation of GLUT4 to the plasma membrane pathway from the Reactome Pathways dataset.

MyD88 cascade initiated on plasma membrane Gene Set

From Reactome Pathways

proteins participating in the MyD88 cascade initiated on plasma membrane pathway from the Reactome Pathways dataset.

NGF signalling via TRKA from the plasma membrane Gene Set

From Reactome Pathways

proteins participating in the NGF signalling via TRKA from the plasma membrane pathway from the Reactome Pathways dataset.

Scavenging of heme from plasma Gene Set

From Reactome Pathways

proteins participating in the Scavenging of heme from plasma pathway from the Reactome Pathways dataset.

Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane Gene Set

From Reactome Pathways

proteins participating in the Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane pathway from the Reactome Pathways dataset.

Anchoring of the basal body to the plasma membrane Gene Set

From Reactome Pathways

proteins participating in the Anchoring of the basal body to the plasma membrane pathway from the Reactome Pathways dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.

Amino acid transport across the plasma membrane Gene Set

From Reactome Pathways

proteins participating in the Amino acid transport across the plasma membrane pathway from the Reactome Pathways dataset.

MyD88:Mal cascade initiated on plasma membrane Gene Set

From Reactome Pathways

proteins participating in the MyD88:Mal cascade initiated on plasma membrane pathway from the Reactome Pathways dataset.

seminal plasma Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue seminal plasma from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

plasma cell Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue plasma cell from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

blood plasma Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue blood plasma from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

blood plasma Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue blood plasma in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

seminal plasma Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue seminal plasma in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

plasma cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue plasma cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

blood plasma Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue blood plasma in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

plasma membrane Gene Set

From LOCATE Predicted Protein Localization Annotations

proteins predicted to localize to the plasma membrane cellular component from the LOCATE Predicted Protein Localization Annotations dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

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

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor d deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acyl-CoA dehydrogenase family, member 9, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of isobutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutaryl-CoA oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Biotinidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor V deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet glycoprotein IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-acetylaspartate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enterokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor VII deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Apolipoprotein a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myeloperoxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Very long chain acyl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortisone reductase deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscle AMP deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropyrimidinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dimethylglycine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hydroxymethylglutaryl-CoA lyase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isovaleryl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-like growth factor I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chitotriosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of malonyl-CoA decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of acetyl-CoA acetyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor B deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proline dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor H deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of aromatic-L-amino-acid decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycine N-methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine carbamoyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sucrase-isomaltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cholesterol monooxygenase (side-chain cleaving) deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fucosyltransferase 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, b subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Platelet Glycoprotein IV Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset.

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylenetetrahydrofolate reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XI Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XI Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine palmitoyl transferase 1A deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset.

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

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

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Intrinsic Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset.

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset.

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lecithin Acyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset.

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset.

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Vitamin B 12 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

Familial HDL deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine-Acylcarnitine Translocase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset.

Flaujeac factor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset.

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset.

VLCAD deficiency Gene Set

From CTD Gene-Disease Associations

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

18-Hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Creatine deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Complex III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset.

PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

dopamine beta hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset.

Growth mental deficiency syndrome of Myhre Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Protein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor 8 deficiency, acquired Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset.

Thiopurine S methyltranferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset.

Vitamin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Molybdenum cofactor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Activator Inhibitor-1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin D Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin D Deficiency from the curated CTD Gene-Disease Associations dataset.

Factor V Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor V Deficiency from the curated CTD Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase Complex Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset.

Aromatic amino acid decarboxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor X Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor X Deficiency from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.

Holocarboxylase Synthetase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Holocarboxylase Synthetase Deficiency from the curated CTD Gene-Disease Associations dataset.

N-acetyl glutamate synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset.

Dimethylglycine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dimethylglycine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset.

Trehalase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Guanidinoacetate methyltransferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Guanidinoacetate methyltransferase deficiency from the curated CTD Gene-Disease Associations dataset.

Aminoacylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Antithrombin III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Antithrombin III Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoenolpyruvate carboxykinase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset.

17-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Heparin Cofactor II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heparin Cofactor II Deficiency from the curated CTD Gene-Disease Associations dataset.

Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

Arginine:Glycine Amidinotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Biotinidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Methionine Adenosyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methionine Adenosyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoenolpyruvate carboxykinase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

Glycine N-Methyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycine N-Methyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Magnesium Deficiency Gene Set

From CTD Gene-Disease Associations

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

2-Methylbutyryl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 2-Methylbutyryl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor Xiii, A Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor Xiii, A Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte adhesion deficiency type 1 from the curated CTD Gene-Disease Associations dataset.

Isobutyryl-CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isobutyryl-CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Dihydropyrimidine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dihydropyrimidine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Corticosteroid-Binding Globulin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corticosteroid-Binding Globulin Deficiency from the curated CTD Gene-Disease Associations dataset.

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

ACTH Deficiency, Isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACTH Deficiency, Isolated from the curated CTD Gene-Disease Associations dataset.

Factor XIII, B Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

GLUT1 DEFICIENCY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLUT1 DEFICIENCY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.

Iron-Refractory Iron Deficiency Anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iron-Refractory Iron Deficiency Anemia from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Specific Granule Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Specific Granule Deficiency from the curated CTD Gene-Disease Associations dataset.

Insulin-Like Growth Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Insulin-Like Growth Factor I Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement component 5 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement component 5 deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Component 7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Lactate dehydrogenase deficiency type A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactate dehydrogenase deficiency type A from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E3-Binding Protein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency from the curated CTD Gene-Disease Associations dataset.

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Cortisone reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cortisone reductase deficiency from the curated CTD Gene-Disease Associations dataset.

Peroxisomal ACYL-COA oxidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peroxisomal ACYL-COA oxidase deficiency from the curated CTD Gene-Disease Associations dataset.

NADH cytochrome B5 reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset.

3b-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3b-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Thiamine Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial Complex II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex II Deficiency from the curated CTD Gene-Disease Associations dataset.

Sucrase-isomaltase deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Systemic carnitine deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Systemic carnitine deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma-cystathionase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-cystathionase deficiency from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset.

Combined Saposin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Saposin Deficiency from the curated CTD Gene-Disease Associations dataset.

Radial Ray Deficiency, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Radial Ray Deficiency, X-Linked from the curated CTD Gene-Disease Associations dataset.

Beta-Ureidopropionase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta-Ureidopropionase Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset.

Protein C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Protein C Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

succinic semialdehyde dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease succinic semialdehyde dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Carboxypeptidase N Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carboxypeptidase N Deficiency from the curated CTD Gene-Disease Associations dataset.

Purine Nucleoside Phosphorylase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement Component 4, Partial Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 4, Partial Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Familial Glucocorticoid Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Endplate Acetylcholinesterase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Endplate Acetylcholinesterase Deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XIII Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XIII Deficiency from the curated CTD Gene-Disease Associations dataset.

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Fructose-1,6-Diphosphatase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fructose-1,6-Diphosphatase Deficiency from the curated CTD Gene-Disease Associations dataset.

MASP2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MASP2 Deficiency from the curated CTD Gene-Disease Associations dataset.

2,4-Dienoyl-CoA Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 2,4-Dienoyl-CoA Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Alpha-ketoglutarate dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha-ketoglutarate dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Factor H Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Factor H Deficiency from the curated CTD Gene-Disease Associations dataset.

VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 2 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 2 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

TRANSCOBALAMIN II DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Prolidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Leukocyte-Adhesion Deficiency Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte-Adhesion Deficiency Syndrome from the curated CTD Gene-Disease Associations dataset.

Dihydropyrimidinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Deficiency Diseases Gene Set

From CTD Gene-Disease Associations

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

BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BISPHOSPHOGLYCERATE MUTASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Vitamin E Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin E Deficiency from the curated CTD Gene-Disease Associations dataset.

PROTHROMBIN DEFICIENCY, CONGENITAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency from the curated CTD Gene-Disease Associations dataset.

CD59 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset.

Myeloperoxidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonyl-CoA Epimerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonyl-CoA Epimerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Mevalonate Kinase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mevalonate Kinase Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Factor I Deficiency from the curated CTD Gene-Disease Associations dataset.

Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta-Hydroxyisobutyryl CoA Deacylase Deficiency from the curated CTD Gene-Disease Associations dataset.

Cytochrome-c Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cytochrome-c Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Hyaluronidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Multiple Sulfatase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Sulfatase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Lysosomal beta-mannosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal beta-mannosidase deficiency from the curated CTD Gene-Disease Associations dataset.

Medium chain acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Medium chain acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Familial apoceruloplasmin deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial apoceruloplasmin deficiency from the curated CTD Gene-Disease Associations dataset.

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutamine deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Sulfite oxidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sulfite oxidase deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Kinase Deficiency of Red Cells Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset.

Factor VII Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor VII Deficiency from the curated CTD Gene-Disease Associations dataset.

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

IRAK4 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease IRAK4 Deficiency from the curated CTD Gene-Disease Associations dataset.

Butyrylcholinesterase deficiency Gene Set

From CTD Gene-Disease Associations

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

Short chain Acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short chain Acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma aminobutyric acid transaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma aminobutyric acid transaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Carboxylase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Carboxylase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Complement Component 6 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 6 Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutamate formiminotransferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutamate formiminotransferase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XII Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XII Deficiency from the curated CTD Gene-Disease Associations dataset.

Aromatase deficiency Gene Set

From CTD Gene-Disease Associations

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

Urocanase deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoserine Aminotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoserine Aminotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset.

Immunoglobulin a deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunoglobulin a deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Immunoglobulin a deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunoglobulin a deficiency 1 from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Glucosephosphate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucosephosphate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial complex I deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial complex I deficiency from the curated CTD Gene-Disease Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Follicle-stimulating hormone deficiency, isolated from the curated CTD Gene-Disease Associations dataset.

Split-hand/foot malformation with long bone deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset.

Immunologic Deficiency Syndromes Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunologic Deficiency Syndromes from the curated CTD Gene-Disease Associations dataset.

protein s deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease protein s deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

systemic primary carnitine deficiency disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

alpha 1-antitrypsin deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease alpha 1-antitrypsin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

holocarboxylase synthetase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease holocarboxylase synthetase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

gamma chain deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease gamma chain deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

pyruvate decarboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease pyruvate decarboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

serine deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease serine deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cerebral creatine deficiency syndrome Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease cerebral creatine deficiency syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

complement deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease complement deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

agat deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease agat deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

prothrombin deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease prothrombin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

complement factor i deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease complement factor i deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.