Name

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.

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.

Platelet-activating factor acetylhydrolase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Platelet-activating factor acetylhydrolase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Platelet-activating factor acetylhydrolase, eucaryote Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Platelet-activating factor acetylhydrolase, eucaryote protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Platelet Activating Factor Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Platelet Activating Factor from the curated CTD Gene-Chemical Interactions dataset.

Platelet Activating Factor Gene Set

From DrugBank Drug Targets

interacting proteins for the Platelet Activating Factor drug from the curated DrugBank Drug Targets dataset.

platelet activating factor biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the platelet activating factor biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

platelet activating factor metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the platelet activating factor metabolic process biological process from the curated GO Biological Process Annotations dataset.

platelet activating factor receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the platelet activating factor receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

platelet-activating factor acetyltransferase activity Gene Set

From GO Molecular Function Annotations

genes performing the platelet-activating factor acetyltransferase activity molecular function from the curated GO Molecular Function Annotations dataset.

Platelet-activating factor receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Platelet-activating factor receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

acetylhydrolase Gene Set

From GeneRIF Biological Term Annotations

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

recombinase activating gene 1 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease recombinase activating gene 1 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

activating transcription factor binding Gene Set

From GO Molecular Function Annotations

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

rna polymerase ii activating transcription factor binding Gene Set

From GO Molecular Function Annotations

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

Apoptotic protease-activating factor 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Apoptotic protease-activating factor 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Activating transcription factor 7-interacting protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Activating transcription factor 7-interacting protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Activating transcription factor 7-interacting protein 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Activating transcription factor 7-interacting protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cdk-activating kinase assembly factor MAT1, centre Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cdk-activating kinase assembly factor MAT1, centre protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cdk-activating kinase assembly factor MAT1/Tfb3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cdk-activating kinase assembly factor MAT1/Tfb3 protein domain from the InterPro Predicted Protein Domain Annotations 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.

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.

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, 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.

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.

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.

platelet storage pool deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

platelet glycoprotein iv deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the platelet glycoprotein iv deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

platelet plc beta-2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the platelet plc beta-2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

regulation of platelet-derived growth factor production Gene Set

From GO Biological Process Annotations

genes participating in the regulation of platelet-derived growth factor production biological process from the curated GO Biological Process Annotations dataset.

vegf-activated platelet-derived growth factor receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the vegf-activated platelet-derived growth factor receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

platelet-derived growth factor receptor-alpha signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the platelet-derived growth factor receptor-alpha signaling pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of platelet-derived growth factor receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of platelet-derived growth factor receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of platelet-derived growth factor receptor-beta signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of platelet-derived growth factor receptor-beta signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of platelet-derived growth factor receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of platelet-derived growth factor receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of platelet-derived growth factor production Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of platelet-derived growth factor production biological process from the curated GO Biological Process Annotations dataset.

platelet-derived growth factor receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the platelet-derived growth factor receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of cell proliferation by vegf-activated platelet derived growth factor receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of cell proliferation by vegf-activated platelet derived growth factor receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway biological process from the curated GO Biological Process Annotations dataset.

response to platelet-derived growth factor Gene Set

From GO Biological Process Annotations

genes participating in the response to platelet-derived growth factor biological process from the curated GO Biological Process Annotations dataset.

regulation of platelet-derived growth factor receptor-alpha signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of platelet-derived growth factor receptor-alpha signaling pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of platelet-derived growth factor receptor-beta signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of platelet-derived growth factor receptor-beta signaling pathway biological process from the curated GO Biological Process Annotations dataset.

cellular response to platelet-derived growth factor stimulus Gene Set

From GO Biological Process Annotations

genes participating in the cellular response to platelet-derived growth factor stimulus biological process from the curated GO Biological Process Annotations dataset.

negative regulation of platelet-derived growth factor receptor-alpha signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of platelet-derived growth factor receptor-alpha signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway biological process from the curated GO Biological Process Annotations dataset.

platelet-derived growth factor receptor-beta signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the platelet-derived growth factor receptor-beta signaling pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of platelet-derived growth factor receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of platelet-derived growth factor receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

platelet-derived growth factor alpha-receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the platelet-derived growth factor alpha-receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

platelet-derived growth factor binding Gene Set

From GO Molecular Function Annotations

genes performing the platelet-derived growth factor binding molecular function from the curated GO Molecular Function Annotations dataset.

platelet-derived growth factor receptor binding Gene Set

From GO Molecular Function Annotations

genes performing the platelet-derived growth factor receptor binding molecular function from the curated GO Molecular Function Annotations dataset.

platelet-derived growth factor beta-receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the platelet-derived growth factor beta-receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

platelet-derived growth factor-activated receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the platelet-derived growth factor-activated receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

Platelet-derived growth factor receptor beta Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Platelet-derived growth factor receptor beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Platelet-derived growth factor receptor alpha Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Platelet-derived growth factor receptor alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Platelet-derived growth factor, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Platelet-derived growth factor, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Platelet-derived growth factor C Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Platelet-derived growth factor C protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Platelet-derived growth factor D Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Platelet-derived growth factor D protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Platelet-derived growth factor, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Platelet-derived growth factor, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

gata3 participate in activating the th2 cytokine genes expression Gene Set

From Biocarta Pathways

proteins participating in the gata3 participate in activating the th2 cytokine genes expression pathway from the Biocarta Pathways dataset.

sumo activating enzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the sumo activating enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

snrna-activating protein complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the snrna-activating protein complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cyclin-dependent protein kinase activating kinase holoenzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cyclin-dependent protein kinase activating kinase holoenzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

sumo activating enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

proteasome-activating nucleotidase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

cyclin-dependent protein kinase activating kinase holoenzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

SNAPc (small nuclear RNA-activating protein) complex Gene Set

From CORUM Protein Complexes

proteins in the SNAPc (small nuclear RNA-activating protein) complex protein complex from the CORUM Protein Complexes dataset.

CAK complex (Cdk-activating kinase complex) Gene Set

From CORUM Protein Complexes

proteins in the CAK complex (Cdk-activating kinase complex) protein complex from the CORUM Protein Complexes dataset.

CAK core complex (Cdk-activating kinase core complex) Gene Set

From CORUM Protein Complexes

proteins in the CAK core complex (Cdk-activating kinase core complex) protein complex from the CORUM Protein Complexes dataset.

PAR-1-activating peptide Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical PAR-1-activating peptide from the curated CTD Gene-Chemical Interactions dataset.

thrombin receptor-activating peptide SFLLRNPNDKY Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical thrombin receptor-activating peptide SFLLRNPNDKY from the curated CTD Gene-Chemical Interactions dataset.

connective tissue-activating peptide Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical connective tissue-activating peptide from the curated CTD Gene-Chemical Interactions dataset.

activating Gene Set

From GeneRIF Biological Term Annotations

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

innate immune response-activating signal transduction Gene Set

From GO Biological Process Annotations

genes participating in the innate immune response-activating signal transduction biological process from the curated GO Biological Process Annotations dataset.

phospholipase c-activating g-protein coupled glutamate receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the phospholipase c-activating g-protein coupled glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of cytosolic calcium ion concentration involved in phospholipase c-activating g-protein coupled signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of cytosolic calcium ion concentration involved in phospholipase c-activating g-protein coupled signaling pathway biological process from the curated GO Biological Process Annotations dataset.

phospholipase c-activating dopamine receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the phospholipase c-activating dopamine receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

phospholipase c-activating adrenergic receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the phospholipase c-activating adrenergic receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

phospholipase d-activating g-protein coupled receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the phospholipase d-activating g-protein coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of phospholipase c-activating g-protein coupled receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of phospholipase c-activating g-protein coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of phospholipase c-activating g-protein coupled receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of phospholipase c-activating g-protein coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

phospholipase c-activating angiotensin-activated signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the phospholipase c-activating angiotensin-activated signaling pathway biological process from the curated GO Biological Process Annotations dataset.

immune response-activating signal transduction Gene Set

From GO Biological Process Annotations

genes participating in the immune response-activating signal transduction biological process from the curated GO Biological Process Annotations dataset.

adenylate cyclase-activating dopamine receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the adenylate cyclase-activating dopamine receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

innate immune response activating cell surface receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the innate immune response activating cell surface receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

phospholipase c-activating g-protein coupled acetylcholine receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the phospholipase c-activating g-protein coupled acetylcholine receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

phospholipase c-activating g-protein coupled receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the phospholipase c-activating g-protein coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of phospholipase c-activating g-protein coupled receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of phospholipase c-activating g-protein coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

protein kinase c-activating g-protein coupled receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the protein kinase c-activating g-protein coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

adenylate cyclase-activating adrenergic receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the adenylate cyclase-activating adrenergic receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

phospholipase c-activating serotonin receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the phospholipase c-activating serotonin receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

adenylate cyclase-activating g-protein coupled receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the adenylate cyclase-activating g-protein coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

immune response-activating cell surface receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the immune response-activating cell surface receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

sumo activating enzyme complex Gene Set

From GO Cellular Component Annotations

proteins localized to the sumo activating enzyme complex cellular component from the curated GO Cellular Component Annotations dataset.

snrna-activating protein complex Gene Set

From GO Cellular Component Annotations

proteins localized to the snrna-activating protein complex cellular component from the curated GO Cellular Component Annotations dataset.

cyclin-dependent protein kinase activating kinase holoenzyme complex Gene Set

From GO Cellular Component Annotations

proteins localized to the cyclin-dependent protein kinase activating kinase holoenzyme complex cellular component from the curated GO Cellular Component Annotations dataset.

fat10 activating enzyme activity Gene Set

From GO Molecular Function Annotations

genes performing the fat10 activating enzyme activity molecular function from the curated GO Molecular Function Annotations dataset.

pituitary adenylate cyclase activating polypeptide activity Gene Set

From GO Molecular Function Annotations

genes performing the pituitary adenylate cyclase activating polypeptide activity molecular function from the curated GO Molecular Function Annotations dataset.

gtpase activating protein binding Gene Set

From GO Molecular Function Annotations

genes performing the gtpase activating protein binding molecular function from the curated GO Molecular Function Annotations dataset.

pituitary adenylate cyclase-activating polypeptide receptor binding Gene Set

From GO Molecular Function Annotations

genes performing the pituitary adenylate cyclase-activating polypeptide receptor binding molecular function from the curated GO Molecular Function Annotations dataset.

activating mhc class i receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the activating mhc class i receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

small protein activating enzyme binding Gene Set

From GO Molecular Function Annotations

genes performing the small protein activating enzyme binding molecular function from the curated GO Molecular Function Annotations dataset.

sumo activating enzyme activity Gene Set

From GO Molecular Function Annotations

genes performing the sumo activating enzyme activity molecular function from the curated GO Molecular Function Annotations dataset.

atg8 activating enzyme activity Gene Set

From GO Molecular Function Annotations

genes performing the atg8 activating enzyme activity molecular function from the curated GO Molecular Function Annotations dataset.

hla-a specific activating mhc class i receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the hla-a specific activating mhc class i receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

urm1 activating enzyme activity Gene Set

From GO Molecular Function Annotations

genes performing the urm1 activating enzyme activity molecular function from the curated GO Molecular Function Annotations dataset.

ufm1 activating enzyme activity Gene Set

From GO Molecular Function Annotations

genes performing the ufm1 activating enzyme activity molecular function from the curated GO Molecular Function Annotations dataset.

atg12 activating enzyme activity Gene Set

From GO Molecular Function Annotations

genes performing the atg12 activating enzyme activity molecular function from the curated GO Molecular Function Annotations dataset.

ubiquitin activating enzyme activity Gene Set

From GO Molecular Function Annotations

genes performing the ubiquitin activating enzyme activity molecular function from the curated GO Molecular Function Annotations dataset.

small protein activating enzyme activity Gene Set

From GO Molecular Function Annotations

genes performing the small protein activating enzyme activity molecular function from the curated GO Molecular Function Annotations dataset.

isg15 activating enzyme activity Gene Set

From GO Molecular Function Annotations

genes performing the isg15 activating enzyme activity molecular function from the curated GO Molecular Function Annotations dataset.

interleukin-1, type i, activating receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the interleukin-1, type i, activating receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

cyclin-dependent protein kinase activating kinase activity Gene Set

From GO Molecular Function Annotations

genes performing the cyclin-dependent protein kinase activating kinase activity molecular function from the curated GO Molecular Function Annotations dataset.

nedd8 activating enzyme activity Gene Set

From GO Molecular Function Annotations

genes performing the nedd8 activating enzyme activity molecular function from the curated GO Molecular Function Annotations dataset.

Rho GTPase activating protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rho GTPase activating protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-like 1 activating enzyme, catalytic cysteine domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-like 1 activating enzyme, catalytic cysteine domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Telomerase activating protein Est1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Telomerase activating protein Est1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

V-D-J recombination activating protein 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the V-D-J recombination activating protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

5-lipoxygenase-activating protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 5-lipoxygenase-activating protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-activating enzyme repeat Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-activating enzyme repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin/SUMO-activating enzyme ubiquitin-like domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin/SUMO-activating enzyme ubiquitin-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RNMT-activating mini protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RNMT-activating mini protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-activating enzyme Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-activating enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Rho GTPase-activating protein 7 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rho GTPase-activating protein 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ras GTPase-activating protein, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ras GTPase-activating protein, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Rho GTPase-activating protein 26 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rho GTPase-activating protein 26 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ras GTPase-activating protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ras GTPase-activating protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-activating enzyme e1, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-activating enzyme e1, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Small nuclear RNA activating complex subunit 2-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Small nuclear RNA activating complex subunit 2-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Actin-binding Rho-activating protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Actin-binding Rho-activating protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Gamma-secretase-activating protein, C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Gamma-secretase-activating protein, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Small nuclear RNA activating complex (SNAPc), subunit SNAP43 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Small nuclear RNA activating complex (SNAPc), subunit SNAP43 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Rab3 GTPase-activating protein catalytic subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rab3 GTPase-activating protein catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Rap GTPase activating protein domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rap GTPase activating protein domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-activating enzyme, E1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-activating enzyme, E1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sterol regulatory element-binding protein cleavage-activating protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sterol regulatory element-binding protein cleavage-activating protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Recombination activating protein 2, PHD domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Recombination activating protein 2, PHD domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Guanylate cyclase activating protein 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Guanylate cyclase activating protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-activating enzyme, E1, active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-activating enzyme, E1, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GPCR, family 2, pituitary adenylate cyclase activating polypeptide type 1 receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GPCR, family 2, pituitary adenylate cyclase activating polypeptide type 1 receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arf GTPase activating protein, ASAP3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arf GTPase activating protein, ASAP3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

snRNA-activating protein complex subunit 5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the snRNA-activating protein complex subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Activating signal cointegrator 1 complex subunit 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Activating signal cointegrator 1 complex subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

snRNA-activating protein complex, subunit 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the snRNA-activating protein complex, subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RasGAP-activating-like protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RasGAP-activating-like protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Rho GTPase-activating protein domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rho GTPase-activating protein domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Zinc finger, V(D)J recombination-activating protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Zinc finger, V(D)J recombination-activating protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-like modifier-activating enzyme Atg7 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-like modifier-activating enzyme Atg7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin/SUMO-activating enzyme E1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin/SUMO-activating enzyme E1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin activating enzyme, alpha domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin activating enzyme, alpha domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutathione-dependent formaldehyde-activating enzyme/centromere protein V Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutathione-dependent formaldehyde-activating enzyme/centromere protein V protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SLIT-ROBO Rho GTPase-activating protein 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SLIT-ROBO Rho GTPase-activating protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ran GTPase-activating protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ran GTPase-activating protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ran-GTPase activating protein 1, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ran-GTPase activating protein 1, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Gamma-secretase-activating protein family Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Gamma-secretase-activating protein family protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arf GTPase activating protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arf GTPase activating protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Plasminogen activating cascade Gene Set

From PANTHER Pathways

proteins participating in the Plasminogen activating cascade pathway from the PANTHER Pathways dataset.

gtpase-activating-proteins Gene Set

From Phosphosite Textmining Biological Term Annotations

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

AXIN mutants destabilize the destruction complex, activating WNT signaling Gene Set

From Reactome Pathways

proteins participating in the AXIN mutants destabilize the destruction complex, activating WNT signaling pathway from the Reactome Pathways dataset.

Adenylate cyclase activating pathway Gene Set

From Reactome Pathways

proteins participating in the Adenylate cyclase activating pathway 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.

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.

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.

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 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 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 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 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 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.

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.

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.

?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.

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.

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.

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.

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.

platelet amyloid precursor protein pathway Gene Set

From Biocarta Pathways

proteins participating in the platelet amyloid precursor protein pathway pathway from the Biocarta Pathways dataset.

aspirin blocks signaling pathway involved in platelet activation Gene Set

From Biocarta Pathways

proteins participating in the aspirin blocks signaling pathway involved in platelet activation pathway from the Biocarta Pathways dataset.

Platelet-type bleeding disorder 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-type bleeding disorder 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet-type bleeding disorder 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-type bleeding disorder 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet-type bleeding disorder 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-type bleeding disorder 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet-type bleeding disorder 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-type bleeding disorder 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gray platelet syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Familial platelet disorder with associated myeloid malignancy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Familial platelet disorder with associated myeloid malignancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bleeding disorder, platelet-type, 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bleeding disorder, platelet-type, 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bleeding disorder, platelet-type, 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bleeding disorder, platelet-type, 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

platelet alpha granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

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

platelet dense granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

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

platelet alpha granule lumen Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet alpha granule lumen cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet dense tubular network membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet dense tubular network membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet alpha granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet alpha granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet dense tubular network Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet dense tubular network cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet dense granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet dense granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet alpha granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

platelet dense granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

platelet alpha granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

platelet dense granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

Platelet Disorder, Familial, with Associated Myeloid Malignancy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platelet Disorder, Familial, with Associated Myeloid Malignancy from the curated CTD Gene-Disease Associations dataset.

Von Willebrand disease, platelet type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Von Willebrand disease, platelet type from the curated CTD Gene-Disease Associations dataset.

Gray Platelet Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gray Platelet Syndrome from the curated CTD Gene-Disease Associations dataset.

BLEEDING DISORDER, PLATELET-TYPE, 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BLEEDING DISORDER, PLATELET-TYPE, 8 from the curated CTD Gene-Disease Associations dataset.

Blood Platelet Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Blood Platelet Disorders from the curated CTD Gene-Disease Associations dataset.

Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis from the curated CTD Gene-Disease Associations dataset.

Platelet Aggregation Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Platelet Aggregation in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Platelet Count Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Platelet Count in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

blood platelet disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease blood platelet disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

thrombocytopenia due to platelet alloimmunization Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

blood platelet disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

qualitative platelet defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

blood platelet disorders; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood platelet disorders; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

platelet reactivity and clopidogrel resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease platelet reactivity and clopidogrel resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenosine diphosphate-induced platelet aggregation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenosine diphosphate-induced platelet aggregation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

platelet alpha(2)beta(1), densities of Gene Set

From GAD Gene-Disease Associations

genes associated with the disease platelet alpha(2)beta(1), densities of in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

platelet phamacodynamics Gene Set

From GAD Gene-Disease Associations

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

platelet monoamine oxidase b activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease platelet monoamine oxidase b activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

platelet signaling Gene Set

From GAD Gene-Disease Associations

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

double homozygosity for receptor polymorphisms of platelet gpia and gpiiia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease double homozygosity for receptor polymorphisms of platelet gpia and gpiiia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

platelet receptor density and the response to sfllrn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease platelet receptor density and the response to sfllrn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

platelet thrombogenicity Gene Set

From GAD Gene-Disease Associations

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

sticky platelet syndrome Gene Set

From GAD Gene-Disease Associations

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

platelet aggregation Gene Set

From GAD Gene-Disease Associations

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

blood platelet disorders; cardiovascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood platelet disorders; cardiovascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery bypass grafting; platelet hyperreactivity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery bypass grafting; platelet hyperreactivity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

quebec platelet disorder Gene Set

From GAD Gene-Disease Associations

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

mean platelet volume Gene Set

From GAD Gene-Disease Associations

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

platelet alpha2 beta1 density Gene Set

From GAD Gene-Disease Associations

genes associated with the disease platelet alpha2 beta1 density in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

platelet aggregation; thromboxate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease platelet aggregation; thromboxate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

increased platelet aggregability Gene Set

From GAD Gene-Disease Associations

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

variation in platelet integrin alpha 2 beta 1 density Gene Set

From GAD Gene-Disease Associations

genes associated with the disease variation in platelet integrin alpha 2 beta 1 density in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

platelet aggregation; nitric oxide activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease platelet aggregation; nitric oxide activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

platelet count Gene Set

From GAD Gene-Disease Associations

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

fibrinogen; platelet aggregability Gene Set

From GAD Gene-Disease Associations

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

platelet Gene Set

From GeneRIF Biological Term Annotations

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

negative regulation of platelet activation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of platelet activation biological process from the curated GO Biological Process Annotations dataset.

platelet degranulation Gene Set

From GO Biological Process Annotations

genes participating in the platelet degranulation biological process from the curated GO Biological Process Annotations dataset.

platelet morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the platelet morphogenesis biological process from the curated GO Biological Process Annotations dataset.

negative regulation of platelet aggregation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of platelet aggregation biological process from the curated GO Biological Process Annotations dataset.

platelet aggregation Gene Set

From GO Biological Process Annotations

genes participating in the platelet aggregation biological process from the curated GO Biological Process Annotations dataset.

regulation of platelet activation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of platelet activation biological process from the curated GO Biological Process Annotations dataset.

positive regulation of platelet activation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of platelet activation biological process from the curated GO Biological Process Annotations dataset.

platelet dense granule organization Gene Set

From GO Biological Process Annotations

genes participating in the platelet dense granule organization biological process from the curated GO Biological Process Annotations dataset.

platelet activation Gene Set

From GO Biological Process Annotations

genes participating in the platelet activation biological process from the curated GO Biological Process Annotations dataset.

positive regulation of platelet aggregation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of platelet aggregation biological process from the curated GO Biological Process Annotations dataset.

regulation of platelet aggregation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of platelet aggregation biological process from the curated GO Biological Process Annotations dataset.

platelet alpha granule organization Gene Set

From GO Biological Process Annotations

genes participating in the platelet alpha granule organization biological process from the curated GO Biological Process Annotations dataset.

platelet formation Gene Set

From GO Biological Process Annotations

genes participating in the platelet formation biological process from the curated GO Biological Process Annotations dataset.

serotonin secretion by platelet Gene Set

From GO Biological Process Annotations

genes participating in the serotonin secretion by platelet biological process from the curated GO Biological Process Annotations dataset.

phosphatidylserine exposure on blood platelet Gene Set

From GO Biological Process Annotations

genes participating in the phosphatidylserine exposure on blood platelet biological process from the curated GO Biological Process Annotations dataset.

protein secretion by platelet Gene Set

From GO Biological Process Annotations

genes participating in the protein secretion by platelet biological process from the curated GO Biological Process Annotations dataset.

platelet alpha granule lumen Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet alpha granule lumen cellular component from the curated GO Cellular Component Annotations dataset.

platelet alpha granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet alpha granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

platelet dense granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet dense granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

platelet dense tubular network membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet dense tubular network membrane cellular component from the curated GO Cellular Component Annotations dataset.

platelet alpha granule Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet alpha granule cellular component from the curated GO Cellular Component Annotations dataset.

platelet dense tubular network Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet dense tubular network cellular component from the curated GO Cellular Component Annotations dataset.

platelet dense granule Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet dense granule cellular component from the curated GO Cellular Component Annotations dataset.

Platelet counts Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Platelet counts phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Mean platelet volume Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Mean platelet volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Platelet aggregation Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Platelet aggregation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

blood platelet disease Gene Set

From GWASdb SNP-Disease Associations

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

abnormal platelet count Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormal platelet count phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

impaired platelet aggregation Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the impaired platelet aggregation phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormal platelet function Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormal platelet function phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

impaired collagen-induced platelet aggregation Gene Set

From HPO Gene-Disease Associations

genes associated with the impaired collagen-induced platelet aggregation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

platelet antibody positive Gene Set

From HPO Gene-Disease Associations

genes associated with the platelet antibody positive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

impaired adp-induced platelet aggregation Gene Set

From HPO Gene-Disease Associations

genes associated with the impaired adp-induced platelet aggregation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal platelet membrane protein expression Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal platelet membrane protein expression phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal platelet granules Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal platelet granules phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal platelet volume Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal platelet volume phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

impaired thrombin-induced platelet aggregation Gene Set

From HPO Gene-Disease Associations

genes associated with the impaired thrombin-induced platelet aggregation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal platelet morphology Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal platelet morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal platelet function Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal platelet function phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

increased mean platelet volume Gene Set

From HPO Gene-Disease Associations

genes associated with the increased mean platelet volume phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased mean platelet volume Gene Set

From HPO Gene-Disease Associations

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

impaired epinephrine-induced platelet aggregation Gene Set

From HPO Gene-Disease Associations

genes associated with the impaired epinephrine-induced platelet aggregation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal platelet count Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal platelet count phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

impaired platelet aggregation Gene Set

From HPO Gene-Disease Associations

genes associated with the impaired platelet aggregation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased platelet glycoprotein iib-iiia Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased platelet glycoprotein iib-iiia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Blood Platelet Disorders Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Blood Platelet Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

increased platelet cell number Gene Set

From MPO Gene-Phenotype Associations

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

abnormal platelet physiology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet dense granule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet dense granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet shape Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet shape phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased platelet calcium level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased platelet calcium level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased platelet serotonin level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased platelet serotonin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased platelet aggregation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased platelet aggregation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased platelet atp level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased platelet atp level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased mean platelet volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased mean platelet volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet activation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet activation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet serotonin level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet serotonin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet adp level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet adp level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased platelet cell number Gene Set

From MPO Gene-Phenotype Associations

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

abnormal platelet dense granule number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet dense granule number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased platelet adp level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased platelet adp level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet aggregation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet aggregation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet cell number Gene Set

From MPO Gene-Phenotype Associations

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

abnormal platelet morphology Gene Set

From MPO Gene-Phenotype Associations

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

decreased platelet aggregation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased platelet aggregation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet calcium level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet calcium level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet dense granule physiology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet dense granule physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased mean platelet volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased mean platelet volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet atp level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet atp level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

anemia, x-linked, with/without neutropenia and/or platelet abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, x-linked, with/without neutropenia and/or platelet abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

{bleeding disorder, platelet-type, 13, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {bleeding disorder, platelet-type, 13, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

mean platelet volume qtl6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mean platelet volume qtl6 phenotype from the curated OMIM Gene-Disease Associations dataset.

mean platelet volume qtl4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mean platelet volume qtl4 phenotype from the curated OMIM Gene-Disease Associations dataset.

mean platelet volume qtl5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mean platelet volume qtl5 phenotype from the curated OMIM Gene-Disease Associations dataset.

giant platelet disorder, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the giant platelet disorder, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder, platelet-type, 16, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder, platelet-type, 16, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder, platelet-type, 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder, platelet-type, 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder, platelet-type, 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder, platelet-type, 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder, platelet-type, 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder, platelet-type, 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

[mean platelet volume qtl3] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [mean platelet volume qtl3] phenotype from the curated OMIM Gene-Disease Associations dataset.

[mean platelet volume qtl1] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [mean platelet volume qtl1] phenotype from the curated OMIM Gene-Disease Associations dataset.

quebec platelet disorder Gene Set

From OMIM Gene-Disease Associations

genes associated with the quebec platelet disorder phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder, platelet-type, 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder, platelet-type, 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

platelet disorder, familial, with associated myeloid malignancy Gene Set

From OMIM Gene-Disease Associations

genes associated with the platelet disorder, familial, with associated myeloid malignancy phenotype from the curated OMIM Gene-Disease Associations dataset.

gray platelet syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the gray platelet syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

[mean platelet volume qtl2] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [mean platelet volume qtl2] phenotype from the curated OMIM Gene-Disease Associations dataset.

?bleeding disorder, platelet-type, 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?bleeding disorder, platelet-type, 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

?bleeding disorder, platelet-type, 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?bleeding disorder, platelet-type, 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

von willebrand disease, platelet-type Gene Set

From OMIM Gene-Disease Associations

genes associated with the von willebrand disease, platelet-type phenotype from the curated OMIM Gene-Disease Associations dataset.

platelet-derived Gene Set

From Phosphosite Textmining Biological Term Annotations

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

Platelet Adhesion to exposed collagen Gene Set

From Reactome Pathways

proteins participating in the Platelet Adhesion to exposed collagen pathway from the Reactome Pathways dataset.

Platelet degranulation Gene Set

From Reactome Pathways

proteins participating in the Platelet degranulation pathway from the Reactome Pathways dataset.

Platelet sensitization by LDL Gene Set

From Reactome Pathways

proteins participating in the Platelet sensitization by LDL pathway from the Reactome Pathways dataset.

Factors involved in megakaryocyte development and platelet production Gene Set

From Reactome Pathways

proteins participating in the Factors involved in megakaryocyte development and platelet production pathway from the Reactome Pathways dataset.

Platelet homeostasis Gene Set

From Reactome Pathways

proteins participating in the Platelet homeostasis pathway from the Reactome Pathways dataset.

Platelet calcium homeostasis Gene Set

From Reactome Pathways

proteins participating in the Platelet calcium homeostasis pathway from the Reactome Pathways dataset.

Response to elevated platelet cytosolic Ca2+ Gene Set

From Reactome Pathways

proteins participating in the Response to elevated platelet cytosolic Ca2+ pathway from the Reactome Pathways dataset.

Platelet Aggregation (Plug Formation) Gene Set

From Reactome Pathways

proteins participating in the Platelet Aggregation (Plug Formation) pathway from the Reactome Pathways dataset.

Platelet activation, signaling and aggregation Gene Set

From Reactome Pathways

proteins participating in the Platelet activation, signaling and aggregation pathway from the Reactome Pathways dataset.

blood platelet Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

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

blood platelet Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

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

blood platelet Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

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

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

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

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

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

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

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

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

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

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of isobutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

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

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

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

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

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

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glutaryl-CoA oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

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

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

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

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

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

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

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

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

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.

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

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

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

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

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

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

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

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

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Alpha-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Isovaleryl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

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

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of malonyl-CoA decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

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

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of acetyl-CoA acetyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

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

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

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

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

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

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

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.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset.

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

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

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

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

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

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

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

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

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

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

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

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

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

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

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

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

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

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

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

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

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

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

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

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

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Vitamin B 12 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

Familial HDL deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine-Acylcarnitine Translocase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

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

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.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Activator Inhibitor-1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin D Deficiency Gene Set

From CTD Gene-Disease Associations

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

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.

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset.

Dimethylglycine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pituitary Hormone Deficiency, Combined, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset.

Trehalase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Guanidinoacetate methyltransferase deficiency Gene Set

From CTD Gene-Disease Associations

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

Aminoacylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

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

Antithrombin III Deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoenolpyruvate carboxykinase deficiency Gene Set

From CTD Gene-Disease Associations

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

17-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Heparin Cofactor II Deficiency Gene Set

From CTD Gene-Disease Associations

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

Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

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.

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Cortisone reductase deficiency Gene Set

From CTD Gene-Disease Associations

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

Peroxisomal ACYL-COA oxidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peroxisomal ACYL-COA oxidase deficiency from the curated CTD Gene-Disease Associations dataset.

NADH cytochrome B5 reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset.

3b-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3b-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Thiamine Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial Complex II Deficiency Gene Set

From CTD Gene-Disease Associations

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

Sucrase-isomaltase deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

Systemic carnitine deficiency Gene Set

From CTD Gene-Disease Associations

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

Gamma-cystathionase deficiency Gene Set

From CTD Gene-Disease Associations

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

Pituitary Hormone Deficiency, Combined, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset.

Combined Saposin Deficiency Gene Set

From CTD Gene-Disease Associations

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

Radial Ray Deficiency, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Radial Ray Deficiency, X-Linked from the curated CTD Gene-Disease Associations dataset.

Beta-Ureidopropionase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset.

Protein C Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

succinic semialdehyde dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease succinic semialdehyde dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Carboxypeptidase N Deficiency Gene Set

From CTD Gene-Disease Associations

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

Purine Nucleoside Phosphorylase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement Component 4, Partial Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 4, Partial Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Familial Glucocorticoid Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Endplate Acetylcholinesterase Deficiency Gene Set

From CTD Gene-Disease Associations

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

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Fructose-1,6-Diphosphatase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fructose-1,6-Diphosphatase Deficiency from the curated CTD Gene-Disease Associations dataset.

MASP2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MASP2 Deficiency from the curated CTD Gene-Disease Associations dataset.

2,4-Dienoyl-CoA Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 2,4-Dienoyl-CoA Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Alpha-ketoglutarate dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha-ketoglutarate dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 2 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 2 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

TRANSCOBALAMIN II DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Prolidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Leukocyte-Adhesion Deficiency Syndrome Gene Set

From CTD Gene-Disease Associations

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

Dihydropyrimidinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Deficiency Diseases Gene Set

From CTD Gene-Disease Associations

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

BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BISPHOSPHOGLYCERATE MUTASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Vitamin E Deficiency Gene Set

From CTD Gene-Disease Associations

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

PROTHROMBIN DEFICIENCY, CONGENITAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Infantile Gene Set

From CTD Gene-Disease Associations

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

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency from the curated CTD Gene-Disease Associations dataset.

CD59 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset.

Myeloperoxidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonyl-CoA Epimerase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mevalonate Kinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta-Hydroxyisobutyryl CoA Deacylase Deficiency from the curated CTD Gene-Disease Associations dataset.

Cytochrome-c Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Hyaluronidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Multiple Sulfatase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Lysosomal beta-mannosidase deficiency Gene Set

From CTD Gene-Disease Associations

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

Medium chain acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Medium chain acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Familial apoceruloplasmin deficiency Gene Set

From CTD Gene-Disease Associations

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

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutamine deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

Sulfite oxidase deficiency Gene Set

From CTD Gene-Disease Associations

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