Name

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 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.

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.

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.

factor v and factor viii, combined deficiency of Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor v and factor viii, combined deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.

combined factor v and viii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined factor v and viii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

factor viii and factor ix genes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor viii and factor ix genes in GWAS and other genetic association datasets from the GAD Gene-Disease 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.

factor viii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

factor viii deficiency Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease factor viii deficiency in GWAS and other genetic association datasets from the GWASdb SNP-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.

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.

apoa-i and apoc-iii deficiency, combined Gene Set

From OMIM Gene-Disease Associations

genes associated with the apoa-i and apoc-iii deficiency, combined phenotype from the curated OMIM 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.

reduced factor viii activity Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the reduced factor viii activity phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

reduced factor viii activity Gene Set

From HPO Gene-Disease Associations

genes associated with the reduced factor viii activity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased circulating factor viii level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased circulating factor viii level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal circulating factor viii level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal circulating factor viii level phenotype in transgenic mice from the MPO Gene-Phenotype 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

combined pituitary hormone deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease combined pituitary hormone deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunologic deficiency syndromes; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

combined c6/c7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined c6/c7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

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

combined oxidative phosphorylation deficiency 20 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 20 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

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

c1r/c1s deficiency, combined Gene Set

From OMIM Gene-Disease Associations

genes associated with the c1r/c1s deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined sap deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined sap deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

lipase deficiency, combined Gene Set

From OMIM Gene-Disease Associations

genes associated with the lipase deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 21 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 21 phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 22 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 22 phenotype from the curated OMIM Gene-Disease Associations dataset.

Pyramus (VIII) Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Pyramus (VIII) relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Pyramus (VIII), molecular layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Pyramus (VIII), molecular layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Pyramus (VIII), granular layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Pyramus (VIII), granular layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

collagen type viii trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the collagen type viii trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

collagen type viii trimer Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the collagen type viii trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

myosin viii complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

bisindolylmaleimide VIII Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical bisindolylmaleimide VIII from the curated CTD Gene-Chemical Interactions dataset.

Ehlers-Danlos Syndrome, Type VIII Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VIII from the curated CTD Gene-Disease Associations dataset.

Osteogenesis imperfecta, type VIII Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteogenesis imperfecta, type VIII from the curated CTD Gene-Disease Associations dataset.

glycogen storage disease viii Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

viii Gene Set

From GeneRIF Biological Term Annotations

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

collagen type viii trimer Gene Set

From GO Cellular Component Annotations

proteins localized to the collagen type viii trimer cellular component from the curated GO Cellular Component Annotations dataset.

Endonuclease VIII-like 1, DNA binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Endonuclease VIII-like 1, DNA binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Annexin, type VIII Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Annexin, type VIII protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal cerebellum vermis lobule viii morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebellum vermis lobule viii morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cochlear viii nucleus morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cochlear viii nucleus morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent cerebellum vermis lobule viii Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent cerebellum vermis lobule viii phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

maturity-onset diabetes of the young, type viii Gene Set

From OMIM Gene-Disease Associations

genes associated with the maturity-onset diabetes of the young, type viii phenotype from the curated OMIM Gene-Disease Associations dataset.

osteogenesis imperfecta, type viii Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteogenesis imperfecta, type viii phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, type viii Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, type viii phenotype from the curated OMIM Gene-Disease Associations dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined d-2- and l-2-hydroxyglutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined malonic and methylmalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset.

combined t cell and b cell immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease combined t cell and b cell immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

combined t cell and b cell immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease combined t cell and b cell immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

tic; combined vocal and multiple motor; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease tic; combined vocal and multiple motor; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

crohn's disease and sarcoidosis (combined) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease crohn's disease and sarcoidosis (combined) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Schizophrenia, bipolar disorder and depression (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Schizophrenia, bipolar disorder and depression (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Sclerosing cholangitis and ulcerative colitis (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Sclerosing cholangitis and ulcerative colitis (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Bipolar disorder and major depressive disorder (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Bipolar disorder and major depressive disorder (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

combined malonic and methylmalonic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined malonic and methylmalonic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

combined d-2- and l-2-hydroxyglutaric aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

combined cellular and humoral immune defects with granulomas Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined cellular and humoral immune defects with granulomas phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset.

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Gene Set

From Reactome Pathways

proteins participating in the Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) pathway from the Reactome Pathways dataset.

Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways

proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 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.

X-linked severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency 18, severe combined immunodeficiency variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined immunodeficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe combined immunodeficiency, atypical Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperlipidemia, familial combined Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anesthetics, Combined Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Anesthetics, Combined from the curated CTD Gene-Chemical Interactions dataset.

Contraceptives, Oral, Combined Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Contraceptives, Oral, Combined from the curated CTD Gene-Chemical Interactions dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.

Hyperlipidemia, Familial Combined Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperlipidemia, Familial Combined from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset.

X-Linked Combined Immunodeficiency Diseases Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease X-Linked Combined Immunodeficiency Diseases from the curated CTD Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

familial combined hyperlipidemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

lung combined type small cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease lung combined type small cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

combined thymoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

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

hyperlipidemia, familial combined; insulin resistance; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperlipidemia, familial combined; insulin resistance; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial combined hyperlipidemia Gene Set

From GAD Gene-Disease Associations

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

hyperlipidemia, familial combined; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperlipidemia, familial combined; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial combined hyperlipidaemia. Gene Set

From GAD Gene-Disease Associations

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

combined bone mass Gene Set

From GAD Gene-Disease Associations

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

fam hyperbetalipoproteinaemia; hyperlipidemia, familial combined; hyperlipoproteinemia type ii; hypertriglyceridemia; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fam hyperbetalipoproteinaemia; hyperlipidemia, familial combined; hyperlipoproteinemia type ii; hypertriglyceridemia; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lymphopenia; scid; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; coronary artery disease; hyperlipidemia, familial combined; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; coronary artery disease; hyperlipidemia, familial combined; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

x-linked severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; hyperlipidemia, familial combined; metabolic syndrome x; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; hyperlipidemia, familial combined; metabolic syndrome x; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood pressure; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood pressure; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

combined Gene Set

From GeneRIF Biological Term Annotations

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

Familial combined hyperlipidaemia_Blood monocyte_GSE11393 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Familial combined hyperlipidaemia_Blood monocyte_GSE11393 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Familial combined hyperlipidaemia_lymphoblast_GSE1010 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Familial combined hyperlipidaemia_lymphoblast_GSE1010 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Attention deficit hyperactivity disorder (combined symptoms) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Attention deficit hyperactivity disorder (combined symptoms) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

combined hyperlipidemia Gene Set

From HPO Gene-Disease Associations

genes associated with the combined hyperlipidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

combined immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Hyperlipidemia, Familial Combined Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hyperlipidemia, Familial Combined phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

combined hyperlipidemia, familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined hyperlipidemia, familial phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM 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.

severe combined immunodeficiency, b cell-negative Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, athabascan type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset.

{hyperlipidemia, familial combined, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hyperlipidemia, familial combined, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, x-linked Gene Set

From OMIM Gene-Disease Associations

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

hyperlipidemia, combined, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperlipidemia, combined, 2 phenotype from the curated OMIM Gene-Disease 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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.

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.

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.

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.

factor v deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease factor v deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital intrinsic factor deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital intrinsic factor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor xiii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

factor vii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

factor xii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

factor xi deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

factor x deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

complement factor i deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease complement factor i deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor v deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

deficiency of coagulation factor v Gene Set

From GAD Gene-Disease Associations

genes associated with the disease deficiency of coagulation factor v in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eclampsia; factor v deficiency; pre-eclampsia Gene Set

From GAD Gene-Disease Associations

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

factor xii deficiency Gene Set

From GAD Gene-Disease Associations

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

congenital intrinsic factor deficiency. Gene Set

From GAD Gene-Disease Associations

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

factor vii deficiency; peripheral vascular diseases; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor vii deficiency; peripheral vascular diseases; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

factor xi deficiency. Gene Set

From GAD Gene-Disease Associations

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

heterozygous factor xi deficiency Gene Set

From GAD Gene-Disease Associations

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

factor vii deficiency; hemorrhage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor vii deficiency; hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; factor v deficiency; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

factor v deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

factor v deficiency; hemophilia a Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hemophilia a in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

factor v deficiency Gene Set

From GAD Gene-Disease Associations

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

factor vii deficiency Gene Set

From GAD Gene-Disease Associations

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

factor xi deficiency Gene Set

From GAD Gene-Disease Associations

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

cardiovascular diseases; coronary disease; factor xii deficiency; hypercholesterolemia; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; coronary disease; factor xii deficiency; hypercholesterolemia; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

factor vii deficiency Gene Set

From GWASdb SNP-Disease Associations

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

factor x activation deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the factor x activation deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Factor V Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Factor V Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Factor XIII Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Factor XIII Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Factor XII Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Factor XII Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Factor XI Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Factor XI Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Factor VII Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Factor VII Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

factor xiiib deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor xiiib deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

intrinsic factor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the intrinsic factor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

complement factor d deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the complement factor d deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

factor xii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor xii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

factor xi deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor xi deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

factor xiiia deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor xiiia deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

platelet-activating factor acetylhydrolase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the platelet-activating factor acetylhydrolase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

factor x deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

fletcher factor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the fletcher factor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

complement factor h deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the complement factor h deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

factor xi deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor xi deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

factor vii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor vii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

?complement factor b deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?complement factor b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

complement factor i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the complement factor i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

factor v deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor v deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective GIF causes intrinsic factor deficiency Gene Set

From Reactome Pathways

proteins participating in the Defective GIF causes intrinsic factor deficiency pathway from the Reactome Pathways 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

hypertrophic cardiomyopathy and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertrophic cardiomyopathy and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leigh syndrome and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leigh syndrome and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acid lipase deficiency and cholesterol ester storage disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acid lipase deficiency and cholesterol ester storage disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iga deficiency and common variable immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iga deficiency and common variable immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

l-ferritin deficiency, dominant and recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the l-ferritin deficiency, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ulna and fibula, absence of, with severe limb deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

agammaglobulinemia and isolated hormone deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the agammaglobulinemia and isolated hormone deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

natural killer cell and glucocorticoid deficiency with dna repair defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the natural killer cell and glucocorticoid deficiency with dna repair defect phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set

From OMIM Gene-Disease Associations

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

?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

autoinflammation, antibody deficiency, and immune dysregulation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoinflammation, antibody deficiency, and immune dysregulation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set

From OMIM Gene-Disease Associations

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

hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

phosphorylase kinase deficiency of liver and muscle, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) Gene Set

From Reactome Pathways

proteins participating in the Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) pathway from the Reactome Pathways dataset.

interferon regulatory factor 3-interferon regulatory factor 7 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the interferon regulatory factor 3-interferon regulatory factor 7 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

insulin-like growth factor-1; insulin-like growth factor-3 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin-like growth factor-1; insulin-like growth factor-3 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

factor vii antigen; factor vii coagulant activity Gene Set

From GAD Gene-Disease Associations

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

epidermal growth factor receptor signaling pathway via positive regulation of nf-kappab transcription factor activity Gene Set

From GO Biological Process Annotations

genes participating in the epidermal growth factor receptor signaling pathway via positive regulation of nf-kappab transcription factor activity biological process from the curated GO Biological Process Annotations dataset.

rna polymerase i transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase i transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii basal transcription factor binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii basal transcription factor binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase i core element sequence-specific dna binding transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase i core element sequence-specific dna binding transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

transcription factor binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the transcription factor binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

ligand-activated rna polymerase ii transcription factor binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the ligand-activated rna polymerase ii transcription factor binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific transcription regulatory region dna binding rna polymerase ii transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific transcription regulatory region dna binding rna polymerase ii transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

glucocorticoid-activated rna polymerase ii transcription factor binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the glucocorticoid-activated rna polymerase ii transcription factor binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii transcription factor binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii transcription factor binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii transcription factor binding transcription factor activity involved in negative regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii transcription factor binding transcription factor activity involved in negative regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase i transcription factor binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase i transcription factor binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii transcription factor binding transcription factor activity involved in positive regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii transcription factor binding transcription factor activity involved in positive regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

LPS-induced tumour necrosis factor alpha factor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the LPS-induced tumour necrosis factor alpha factor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tissue factor/coagulation factor III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tissue factor/coagulation factor III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CTF transcription factor/nuclear factor 1, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CTF transcription factor/nuclear factor 1, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CTF transcription factor/nuclear factor 1, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CTF transcription factor/nuclear factor 1, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Nuclear factor erythroid 2-related factor 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nuclear factor erythroid 2-related factor 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CTF transcription factor/nuclear factor 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CTF transcription factor/nuclear factor 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Nuclear factor erythroid 2-related factor 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nuclear factor erythroid 2-related factor 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Nuclear factor erythroid 2-related factor 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nuclear factor erythroid 2-related factor 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CTF transcription factor/nuclear factor 1, DNA-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CTF transcription factor/nuclear factor 1, DNA-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

U2 snRNP auxilliary factor, large subunit, splicing factor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the U2 snRNP auxilliary factor, large subunit, splicing factor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Coagulation factor XIIa/hepatocyte growth factor activator Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Coagulation factor XIIa/hepatocyte growth factor activator protein domain from the InterPro Predicted Protein Domain Annotations dataset.

transcription factor creb and its extracellular signals Gene Set

From Biocarta Pathways

proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mrna cleavage and polyadenylation specificity factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Remodeling and spacing factor (RSF) complex Gene Set

From CORUM Protein Complexes

proteins in the Remodeling and spacing factor (RSF) complex protein complex from the CORUM Protein Complexes dataset.

Cleavage and polyadenylation factor (CPSF) Gene Set

From CORUM Protein Complexes

proteins in the Cleavage and polyadenylation factor (CPSF) protein complex from the CORUM Protein Complexes dataset.

ATP-utilizing chromatin assembly and remodeling factor (hACF) complex Gene Set

From CORUM Protein Complexes

proteins in the ATP-utilizing chromatin assembly and remodeling factor (hACF) complex protein complex from the CORUM Protein Complexes 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.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From GO Cellular Component Annotations

proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the curated GO Cellular Component Annotations dataset.

Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Remodeling and spacing factor 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Remodeling and spacing factor 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cleavage and polyadenylation specificity factor subunit 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cleavage and polyadenylation specificity factor subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transcription termination and cleavage factor C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transcription termination and cleavage factor C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DDB1- and CUL4-associated factor 16 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DDB1- and CUL4-associated factor 16 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pancreatic progenitor cell differentiation and proliferation factor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pancreatic progenitor cell differentiation and proliferation factor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Doublesex- and mab-3-related transcription factor 1-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Doublesex- and mab-3-related transcription factor 1-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cleavage and polyadenylation specificity factor 2, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cleavage and polyadenylation specificity factor 2, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

von Willebrand factor C and EGF domain-containing protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the von Willebrand factor C and EGF domain-containing protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

FOXA2 and FOXA3 transcription factor networks Gene Set

From PID Pathways

proteins participating in the FOXA2 and FOXA3 transcription factor networks pathway from the PID Pathways dataset.

Nuclear Events (kinase and transcription factor activation) Gene Set

From Reactome Pathways

proteins participating in the Nuclear Events (kinase and transcription factor activation) pathway from the Reactome Pathways dataset.

basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set

From Biocarta Pathways

proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset.

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

anxiety and hostility and depression Gene Set

From GAD Gene-Disease Associations

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

charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

frontotemporal dementia and pick-like 3r and 4r tauopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamins and metabolites in pregnant women and neonates Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

racemase and epimerase activity, acting on amino acids and derivatives Gene Set

From GO Molecular Function Annotations

genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations dataset.

leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset.

microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.

hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways

proteins participating in the FGFR1c and Klotho ligand binding and activation 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.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset.

Synthesis and interconversion of nucleotide di- and triphosphates Gene Set

From Reactome Pathways

proteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the Wikipathways Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the Wikipathways Pathways dataset.

SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the Wikipathways Pathways 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset.

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

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

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset.

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lecithin Acyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset.

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset.

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

glucosephosphate dehydrogenase deficiency Gene Set