Name

Bile acid synthesis defect, congenital, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset.

congenital bile acid synthesis defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

bile acid synthesis defect, congenital, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.

Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Gene Set

From Reactome Pathways

proteins participating in the Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol pathway from the Reactome Pathways dataset.

Synthesis of bile acids and bile salts Gene Set

From Reactome Pathways

proteins participating in the Synthesis of bile acids and bile salts pathway from the Reactome Pathways dataset.

Synthesis of bile acids and bile salts via 24-hydroxycholesterol Gene Set

From Reactome Pathways

proteins participating in the Synthesis of bile acids and bile salts via 24-hydroxycholesterol pathway from the Reactome Pathways dataset.

Synthesis of bile acids and bile salts via 27-hydroxycholesterol Gene Set

From Reactome Pathways

proteins participating in the Synthesis of bile acids and bile salts via 27-hydroxycholesterol pathway from the Reactome Pathways dataset.

bile acid and bile salt transport Gene Set

From GO Biological Process Annotations

genes participating in the bile acid and bile salt transport biological process from the curated GO Biological Process Annotations dataset.

Bile acid and bile salt metabolism Gene Set

From Reactome Pathways

proteins participating in the Bile acid and bile salt metabolism pathway from the Reactome Pathways dataset.

cholesterol, ldl; bile acid synthesis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, ldl; bile acid synthesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

congenital goiter and defective tg synthesis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital goiter and defective tg synthesis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Congenital defect of folate absorption Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

congenital septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital heart defects; folic acid deficiency; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Bile acid malabsorption, primary Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid malabsorption, primary phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile Acid Malabsorption, Primary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile Acid Malabsorption, Primary from the curated CTD Gene-Disease Associations dataset.

response to bile acid Gene Set

From GO Biological Process Annotations

genes participating in the response to bile acid biological process from the curated GO Biological Process Annotations dataset.

bile acid biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the bile acid biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

cellular response to bile acid Gene Set

From GO Biological Process Annotations

genes participating in the cellular response to bile acid biological process from the curated GO Biological Process Annotations dataset.

canalicular bile acid transport Gene Set

From GO Biological Process Annotations

genes participating in the canalicular bile acid transport biological process from the curated GO Biological Process Annotations dataset.

bile acid catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the bile acid catabolic process biological process from the curated GO Biological Process Annotations dataset.

regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

bile acid metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the bile acid metabolic process biological process from the curated GO Biological Process Annotations dataset.

negative regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

bile acid signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the bile acid signaling pathway biological process from the curated GO Biological Process Annotations dataset.

cell surface bile acid receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the cell surface bile acid receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

intracellular bile acid receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the intracellular bile acid receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

bile acid secretion Gene Set

From GO Biological Process Annotations

genes participating in the bile acid secretion biological process from the curated GO Biological Process Annotations dataset.

bile acid conjugation Gene Set

From GO Biological Process Annotations

genes participating in the bile acid conjugation biological process from the curated GO Biological Process Annotations dataset.

bile acid-exporting atpase activity Gene Set

From GO Molecular Function Annotations

genes performing the bile acid-exporting atpase activity molecular function from the curated GO Molecular Function Annotations dataset.

bile acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the bile acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

bile acid receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the bile acid receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

bile acid binding Gene Set

From GO Molecular Function Annotations

genes performing the bile acid binding molecular function from the curated GO Molecular Function Annotations dataset.

bile acid:sodium symporter activity Gene Set

From GO Molecular Function Annotations

genes performing the bile acid:sodium symporter activity molecular function from the curated GO Molecular Function Annotations dataset.

canalicular bile acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the canalicular bile acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

g-protein coupled bile acid receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the g-protein coupled bile acid receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

increased serum bile acid concentration during pregnancy Gene Set

From HPO Gene-Disease Associations

genes associated with the increased serum bile acid concentration during pregnancy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

increased serum bile acid concentration Gene Set

From HPO Gene-Disease Associations

genes associated with the increased serum bile acid concentration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bile acid biosynthesis, neutral pathway Gene Set

From HumanCyc Pathways

proteins participating in the bile acid biosynthesis, neutral pathway pathway from the HumanCyc Pathways dataset.

Putative sodium bile acid cotransporter Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Putative sodium bile acid cotransporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Bile acid:sodium symporter Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Bile acid:sodium symporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Bile acid:sodium symporter/arsenical resistance protein Acr3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Bile acid:sodium symporter/arsenical resistance protein Acr3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

bile acid biosynthesis Gene Set

From KEGG Pathways

proteins participating in the bile acid biosynthesis pathway from the KEGG Pathways dataset.

bile acid malabsorption, primary Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid malabsorption, primary phenotype from the curated OMIM Gene-Disease Associations dataset.

Drug Induction of Bile Acid Pathway(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Drug Induction of Bile Acid Pathway(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Gamma-aminobutyric acid synthesis Gene Set

From PANTHER Pathways

proteins participating in the Gamma-aminobutyric acid synthesis pathway from the PANTHER Pathways dataset.

Amino acid synthesis and interconversion (transamination) Gene Set

From Reactome Pathways

proteins participating in the Amino acid synthesis and interconversion (transamination) pathway from the Reactome Pathways dataset.

Synthesis of 12-eicosatetraenoic acid derivatives Gene Set

From Reactome Pathways

proteins participating in the Synthesis of 12-eicosatetraenoic acid derivatives pathway from the Reactome Pathways dataset.

Synthesis of 15-eicosatetraenoic acid derivatives Gene Set

From Reactome Pathways

proteins participating in the Synthesis of 15-eicosatetraenoic acid derivatives pathway from the Reactome Pathways dataset.

Neutral 1 amino acid transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neutral 1 amino acid transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

congenital heart defects; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

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

congenital heart defects; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; nervous system diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; congenital heart defects; growth disorders; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Bile Acids and Salts Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Bile Acids and Salts from the curated CTD Gene-Chemical Interactions dataset.

Bile Duct Neoplasms Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile Duct Neoplasms from the curated CTD Gene-Disease Associations dataset.

Bile Duct Diseases Gene Set

From CTD Gene-Disease Associations

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

Adenoma, Bile Duct Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenoma, Bile Duct from the curated CTD Gene-Disease Associations dataset.

bile duct disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

bile duct disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease bile duct disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

bile duct mucoepidermoid carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease bile duct mucoepidermoid carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

bile duct adenoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

bile duct adenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

bile reflux Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

common bile duct disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

bile duct sarcoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

bile duct carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

extrahepatic bile duct carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease extrahepatic bile duct carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

extrahepatic bile duct adenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease extrahepatic bile duct adenocarcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

bile duct disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

bile duct cystadenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

bile duct cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

bile lipid composition and cholesterol gallstone Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile lipid composition and cholesterol gallstone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenoma; carcinoma; common bile duct neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenoma; carcinoma; common bile duct neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile duct neoplasms; gallbladder neoplasms; gallstones Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile duct neoplasms; gallbladder neoplasms; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile duct neoplasms; cholangiocarcinoma; cholangitis, sclerosing Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile duct neoplasms; cholangiocarcinoma; cholangitis, sclerosing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alagille syndrome; paucity of interlobular bile ducts (pilbd); pulmonary valve stenosis; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alagille syndrome; paucity of interlobular bile ducts (pilbd); pulmonary valve stenosis; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile duct neoplasms; biliary calculi; gallstones Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile duct neoplasms; biliary calculi; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile duct neoplasms; cholangiocarcinoma; cholangitis, sclerosing; dna damage; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile duct neoplasms; cholangiocarcinoma; cholangitis, sclerosing; dna damage; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; carcinoma, pancreatic ductal; common bile duct neoplasms; pancreatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; carcinoma, pancreatic ductal; common bile duct neoplasms; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile duct neoplasms; cholangiocarcinoma; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile duct neoplasms; cholangiocarcinoma; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile Gene Set

From GeneRIF Biological Term Annotations

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

common bile duct development Gene Set

From GO Biological Process Annotations

genes participating in the common bile duct development biological process from the curated GO Biological Process Annotations dataset.

intrahepatic bile duct development Gene Set

From GO Biological Process Annotations

genes participating in the intrahepatic bile duct development biological process from the curated GO Biological Process Annotations dataset.

bile-salt sulfotransferase activity Gene Set

From GO Molecular Function Annotations

genes performing the bile-salt sulfotransferase activity molecular function from the curated GO Molecular Function Annotations dataset.

bile duct disease Gene Set

From GWASdb SNP-Disease Associations

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

abnormality of the intrahepatic bile duct Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the intrahepatic bile duct phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

reduced number of intrahepatic bile ducts Gene Set

From HPO Gene-Disease Associations

genes associated with the reduced number of intrahepatic bile ducts phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bile duct proliferation Gene Set

From HPO Gene-Disease Associations

genes associated with the bile duct proliferation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Bile Duct Neoplasms Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Bile Duct Neoplasms phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Common Bile Duct Neoplasms Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Common Bile Duct Neoplasms phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Bile salt export pump Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Bile salt export pump protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal extrahepatic bile duct morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal bile salt homeostasis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bile salt homeostasis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile duct morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal bile secretion Gene Set

From MPO Gene-Phenotype Associations

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

increased bile salt level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased bile salt level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

dilated bile duct Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the dilated bile duct phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile composition Gene Set

From MPO Gene-Phenotype Associations

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

abnormal bile duct development Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bile duct development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

bile duct hyperplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the bile duct hyperplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile duct physiology Gene Set

From MPO Gene-Phenotype Associations

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

bile duct proliferation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the bile duct proliferation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

bile duct inflammation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the bile duct inflammation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal common bile duct morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal bile color Gene Set

From MPO Gene-Phenotype Associations

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

abnormal bile canaliculus morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal intrahepatic bile duct morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal bile salt level Gene Set

From MPO Gene-Phenotype Associations

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

Recycling of bile acids and salts Gene Set

From Reactome Pathways

proteins participating in the Recycling of bile acids and salts pathway from the Reactome Pathways dataset.

Bile salt and organic anion SLC transporters Gene Set

From Reactome Pathways

proteins participating in the Bile salt and organic anion SLC transporters pathway from the Reactome Pathways dataset.

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

From Reactome Pathways

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

bile Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

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

bile ductule Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

bile canaliculus Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

bile duct cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

bile duct epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

bile Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

bile duct Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

srebp control of lipid synthesis Gene Set

From Biocarta Pathways

proteins participating in the srebp control of lipid synthesis pathway from the Biocarta Pathways dataset.

cadmium induces dna synthesis and proliferation in macrophages Gene Set

From Biocarta Pathways

proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways 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.

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.

cholesterol synthesis rate Gene Set

From GAD Gene-Disease Associations

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

interleukin-1 beta (il-1 beta) synthesis capacity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease interleukin-1 beta (il-1 beta) synthesis capacity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cytokine synthesis Gene Set

From GAD Gene-Disease Associations

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

synthesis Gene Set

From GeneRIF Biological Term Annotations

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

dna synthesis involved in dna repair Gene Set

From GO Biological Process Annotations

genes participating in the dna synthesis involved in dna repair biological process from the curated GO Biological Process Annotations dataset.

trna dihydrouridine synthesis Gene Set

From GO Biological Process Annotations

genes participating in the trna dihydrouridine synthesis biological process from the curated GO Biological Process Annotations dataset.

atp synthesis coupled proton transport Gene Set

From GO Biological Process Annotations

genes participating in the atp synthesis coupled proton transport biological process from the curated GO Biological Process Annotations dataset.

atp synthesis coupled electron transport Gene Set

From GO Biological Process Annotations

genes participating in the atp synthesis coupled electron transport biological process from the curated GO Biological Process Annotations dataset.

rrna pseudouridine synthesis Gene Set

From GO Biological Process Annotations

genes participating in the rrna pseudouridine synthesis biological process from the curated GO Biological Process Annotations dataset.

error-prone translesion synthesis Gene Set

From GO Biological Process Annotations

genes participating in the error-prone translesion synthesis biological process from the curated GO Biological Process Annotations dataset.

snrna pseudouridine synthesis Gene Set

From GO Biological Process Annotations

genes participating in the snrna pseudouridine synthesis biological process from the curated GO Biological Process Annotations dataset.

mrna pseudouridine synthesis Gene Set

From GO Biological Process Annotations

genes participating in the mrna pseudouridine synthesis biological process from the curated GO Biological Process Annotations dataset.

dna replication, synthesis of rna primer Gene Set

From GO Biological Process Annotations

genes participating in the dna replication, synthesis of rna primer biological process from the curated GO Biological Process Annotations dataset.

pseudouridine synthesis Gene Set

From GO Biological Process Annotations

genes participating in the pseudouridine synthesis biological process from the curated GO Biological Process Annotations dataset.

translesion synthesis Gene Set

From GO Biological Process Annotations

genes participating in the translesion synthesis biological process from the curated GO Biological Process Annotations dataset.

meiotic dna repair synthesis Gene Set

From GO Biological Process Annotations

genes participating in the meiotic dna repair synthesis biological process from the curated GO Biological Process Annotations dataset.

trna pseudouridine synthesis Gene Set

From GO Biological Process Annotations

genes participating in the trna pseudouridine synthesis biological process from the curated GO Biological Process Annotations dataset.

mitochondrial atp synthesis coupled electron transport Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial atp synthesis coupled electron transport biological process from the curated GO Biological Process Annotations dataset.

mitochondrial atp synthesis coupled proton transport Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial atp synthesis coupled proton transport biological process from the curated GO Biological Process Annotations dataset.

reduced beta/alpha synthesis ratio Gene Set

From HPO Gene-Disease Associations

genes associated with the reduced beta/alpha synthesis ratio phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

reduced alpha/beta synthesis ratio Gene Set

From HPO Gene-Disease Associations

genes associated with the reduced alpha/beta synthesis ratio phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

imbalanced hemoglobin synthesis Gene Set

From HPO Gene-Disease Associations

genes associated with the imbalanced hemoglobin synthesis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fructose 2,6-bisphosphate synthesis/dephosphorylation Gene Set

From HumanCyc Pathways

proteins participating in the fructose 2,6-bisphosphate synthesis/dephosphorylation pathway from the HumanCyc Pathways dataset.

Diphthamide synthesis DHP2, eukaryotic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Diphthamide synthesis DHP2, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Molybdenum cofactor synthesis C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Molybdenum cofactor synthesis C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

tRNA wybutosine-synthesis Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the tRNA wybutosine-synthesis protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Synthesis of cytochrome c oxidase, Sco1/Sco2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Synthesis of cytochrome c oxidase, Sco1/Sco2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Diphthamide synthesis DPH1/DPH2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Diphthamide synthesis DPH1/DPH2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

synthesis and degradation of ketone bodies Gene Set

From KEGG Pathways

proteins participating in the synthesis and degradation of ketone bodies pathway from the KEGG Pathways dataset.

abnormal mitochondrial atp synthesis coupled electron transport Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal mitochondrial atp synthesis coupled electron transport phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Vasopressin synthesis Gene Set

From PANTHER Pathways

proteins participating in the Vasopressin synthesis pathway from the PANTHER Pathways dataset.

ATP synthesis Gene Set

From PANTHER Pathways

proteins participating in the ATP synthesis pathway from the PANTHER Pathways dataset.

Histamine synthesis Gene Set

From PANTHER Pathways

proteins participating in the Histamine synthesis pathway from the PANTHER Pathways dataset.

Telomere C-strand synthesis initiation Gene Set

From Reactome Pathways

proteins participating in the Telomere C-strand synthesis initiation pathway from the Reactome Pathways dataset.

Synthesis of GDP-mannose Gene Set

From Reactome Pathways

proteins participating in the Synthesis of GDP-mannose pathway from the Reactome Pathways dataset.

Hypusine synthesis from eIF5A-lysine Gene Set

From Reactome Pathways

proteins participating in the Hypusine synthesis from eIF5A-lysine pathway from the Reactome Pathways dataset.

Synthesis of dolichyl-phosphate-glucose Gene Set

From Reactome Pathways

proteins participating in the Synthesis of dolichyl-phosphate-glucose pathway from the Reactome Pathways dataset.

Synthesis of PS Gene Set

From Reactome Pathways

proteins participating in the Synthesis of PS pathway from the Reactome Pathways dataset.

Synthesis of PE Gene Set

From Reactome Pathways

proteins participating in the Synthesis of PE pathway from the Reactome Pathways dataset.

GABA synthesis Gene Set

From Reactome Pathways

proteins participating in the GABA synthesis pathway from the Reactome Pathways dataset.

Translesion synthesis by DNA polymerases bypassing lesion on DNA template Gene Set

From Reactome Pathways

proteins participating in the Translesion synthesis by DNA polymerases bypassing lesion on DNA template pathway from the Reactome Pathways dataset.

Synthesis of IPs in the ER lumen Gene Set

From Reactome Pathways

proteins participating in the Synthesis of IPs in the ER lumen pathway from the Reactome Pathways dataset.

Minus-strand DNA synthesis Gene Set

From Reactome Pathways

proteins participating in the Minus-strand DNA synthesis pathway from the Reactome Pathways dataset.

Synthesis of IP3 and IP4 in the cytosol Gene Set

From Reactome Pathways

proteins participating in the Synthesis of IP3 and IP4 in the cytosol pathway from the Reactome Pathways dataset.

Post-translational modification: synthesis of GPI-anchored proteins Gene Set

From Reactome Pathways

proteins participating in the Post-translational modification: synthesis of GPI-anchored proteins pathway from the Reactome Pathways dataset.

A tetrasaccharide linker sequence is required for GAG synthesis Gene Set

From Reactome Pathways

proteins participating in the A tetrasaccharide linker sequence is required for GAG synthesis pathway from the Reactome Pathways dataset.

Synthesis of substrates in N-glycan biosythesis Gene Set

From Reactome Pathways

proteins participating in the Synthesis of substrates in N-glycan biosythesis pathway from the Reactome Pathways dataset.

Viral Messenger RNA Synthesis Gene Set

From Reactome Pathways

proteins participating in the Viral Messenger RNA Synthesis pathway from the Reactome Pathways dataset.

Synthesis of DNA Gene Set

From Reactome Pathways

proteins participating in the Synthesis of DNA pathway from the Reactome Pathways dataset.

Carnitine synthesis Gene Set

From Reactome Pathways

proteins participating in the Carnitine synthesis pathway from the Reactome Pathways dataset.

Gap-filling DNA repair synthesis and ligation in GG-NER Gene Set

From Reactome Pathways

proteins participating in the Gap-filling DNA repair synthesis and ligation in GG-NER pathway from the Reactome Pathways dataset.

Synthesis of PIPs at the early endosome membrane Gene Set

From Reactome Pathways

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

Glycogen synthesis Gene Set

From Reactome Pathways

proteins participating in the Glycogen synthesis pathway from the Reactome Pathways dataset.

Synthesis of Ketone Bodies Gene Set

From Reactome Pathways

proteins participating in the Synthesis of Ketone Bodies pathway from the Reactome Pathways dataset.

Translesion synthesis by Pol eta Gene Set

From Reactome Pathways

proteins participating in the Translesion synthesis by Pol eta pathway from the Reactome Pathways dataset.

Synthesis of IPs in the nucleus Gene Set

From Reactome Pathways

proteins participating in the Synthesis of IPs in the nucleus pathway from the Reactome Pathways dataset.

Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) Gene Set

From Reactome Pathways

proteins participating in the Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) pathway from the Reactome Pathways dataset.

Processive synthesis on the lagging strand Gene Set

From Reactome Pathways

proteins participating in the Processive synthesis on the lagging strand pathway from the Reactome Pathways dataset.

Synthesis of PIPs at the plasma membrane Gene Set

From Reactome Pathways

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

Synthesis of glycosylphosphatidylinositol (GPI) Gene Set

From Reactome Pathways

proteins participating in the Synthesis of glycosylphosphatidylinositol (GPI) pathway from the Reactome Pathways dataset.

Synthesis of 5-eicosatetraenoic acids Gene Set

From Reactome Pathways

proteins participating in the Synthesis of 5-eicosatetraenoic acids pathway from the Reactome Pathways dataset.

Translesion synthesis by HREV1 Gene Set

From Reactome Pathways

proteins participating in the Translesion synthesis by HREV1 pathway from the Reactome Pathways dataset.

Synthesis of PIPs at the Golgi membrane Gene Set

From Reactome Pathways

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

Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) Gene Set

From Reactome Pathways

proteins participating in the Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) pathway from the Reactome Pathways dataset.

Insulin effects increased synthesis of Xylulose-5-Phosphate Gene Set

From Reactome Pathways

proteins participating in the Insulin effects increased synthesis of Xylulose-5-Phosphate pathway from the Reactome Pathways dataset.

Synthesis of Leukotrienes (LT) and Eoxins (EX) Gene Set

From Reactome Pathways

proteins participating in the Synthesis of Leukotrienes (LT) and Eoxins (EX) pathway from the Reactome Pathways dataset.

Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation Gene Set

From Reactome Pathways

proteins participating in the Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation pathway from the Reactome Pathways dataset.

Synthesis And Processing Of GAG, GAGPOL Polyproteins Gene Set

From Reactome Pathways

proteins participating in the Synthesis And Processing Of GAG, GAGPOL Polyproteins pathway from the Reactome Pathways dataset.

Incretin synthesis, secretion, and inactivation Gene Set

From Reactome Pathways

proteins participating in the Incretin synthesis, secretion, and inactivation pathway from the Reactome Pathways dataset.

Synthesis of IP2, IP, and Ins in the cytosol Gene Set

From Reactome Pathways

proteins participating in the Synthesis of IP2, IP, and Ins in the cytosol pathway from the Reactome Pathways dataset.

Synthesis of PIPs at the late endosome membrane Gene Set

From Reactome Pathways

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

Repair synthesis for gap-filling by DNA polymerase in TC-NER Gene Set

From Reactome Pathways

proteins participating in the Repair synthesis for gap-filling by DNA polymerase in TC-NER pathway from the Reactome Pathways dataset.

Transport and synthesis of PAPS Gene Set

From Reactome Pathways

proteins participating in the Transport and synthesis of PAPS pathway from the Reactome Pathways dataset.

Synthesis of UDP-N-acetyl-glucosamine Gene Set

From Reactome Pathways

proteins participating in the Synthesis of UDP-N-acetyl-glucosamine pathway from the Reactome Pathways dataset.

Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Gene Set

From Reactome Pathways

proteins participating in the Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) pathway from the Reactome Pathways dataset.

Synthesis of PA Gene Set

From Reactome Pathways

proteins participating in the Synthesis of PA pathway from the Reactome Pathways dataset.

Synthesis of PC Gene Set

From Reactome Pathways

proteins participating in the Synthesis of PC pathway from the Reactome Pathways dataset.

Synthesis of PG Gene Set

From Reactome Pathways

proteins participating in the Synthesis of PG pathway from the Reactome Pathways dataset.

Synthesis of PI Gene Set

From Reactome Pathways

proteins participating in the Synthesis of PI pathway from the Reactome Pathways dataset.

Synthesis of PIPs at the ER membrane Gene Set

From Reactome Pathways

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

GABA synthesis, release, reuptake and degradation Gene Set

From Reactome Pathways

proteins participating in the GABA synthesis, release, reuptake and degradation pathway from the Reactome Pathways dataset.

Synthesis of pyrophosphates in the cytosol Gene Set

From Reactome Pathways

proteins participating in the Synthesis of pyrophosphates in the cytosol pathway from the Reactome Pathways dataset.

Reactions specific to the complex N-glycan synthesis pathway Gene Set

From Reactome Pathways

proteins participating in the Reactions specific to the complex N-glycan synthesis pathway pathway from the Reactome Pathways dataset.

Reactions specific to the hybrid N-glycan synthesis pathway Gene Set

From Reactome Pathways

proteins participating in the Reactions specific to the hybrid N-glycan synthesis pathway pathway from the Reactome Pathways dataset.

Synthesis of Dolichyl-phosphate Gene Set

From Reactome Pathways

proteins participating in the Synthesis of Dolichyl-phosphate pathway from the Reactome Pathways dataset.

Processive synthesis on the C-strand of the telomere Gene Set

From Reactome Pathways

proteins participating in the Processive synthesis on the C-strand of the telomere pathway from the Reactome Pathways dataset.

Lagging Strand Synthesis Gene Set

From Reactome Pathways

proteins participating in the Lagging Strand Synthesis pathway from the Reactome Pathways dataset.

Synthesis of Hepoxilins (HX) and Trioxilins (TrX) Gene Set

From Reactome Pathways

proteins participating in the Synthesis of Hepoxilins (HX) and Trioxilins (TrX) pathway from the Reactome Pathways dataset.

Synthesis of diphthamide-EEF2 Gene Set

From Reactome Pathways

proteins participating in the Synthesis of diphthamide-EEF2 pathway from the Reactome Pathways dataset.

Glutathione synthesis and recycling Gene Set

From Reactome Pathways

proteins participating in the Glutathione synthesis and recycling pathway from the Reactome Pathways dataset.

Leading Strand Synthesis Gene Set

From Reactome Pathways

proteins participating in the Leading Strand Synthesis pathway from the Reactome Pathways dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways

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

Synthesis of Prostaglandins (PG) and Thromboxanes (TX) Gene Set

From Reactome Pathways

proteins participating in the Synthesis of Prostaglandins (PG) and Thromboxanes (TX) pathway from the Reactome Pathways dataset.

Synthesis of Lipoxins (LX) Gene Set

From Reactome Pathways

proteins participating in the Synthesis of Lipoxins (LX) pathway from the Reactome Pathways dataset.

Synthesis and interconversion of nucleotide di- and triphosphates Gene Set

From Reactome Pathways

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

Plus-strand DNA synthesis Gene Set

From Reactome Pathways

proteins participating in the Plus-strand DNA synthesis pathway from the Reactome Pathways dataset.

Synthesis of dolichyl-phosphate mannose Gene Set

From Reactome Pathways

proteins participating in the Synthesis of dolichyl-phosphate mannose pathway from the Reactome Pathways dataset.

Translesion synthesis by Pol zeta Gene Set

From Reactome Pathways

proteins participating in the Translesion synthesis by Pol zeta pathway from the Reactome Pathways dataset.

Synthesis, secretion, and deacylation of Ghrelin Gene Set

From Reactome Pathways

proteins participating in the Synthesis, secretion, and deacylation of Ghrelin pathway from the Reactome Pathways dataset.

Synthesis of CL Gene Set

From Reactome Pathways

proteins participating in the Synthesis of CL pathway from the Reactome Pathways dataset.

Gap-filling DNA repair synthesis and ligation in TC-NER Gene Set

From Reactome Pathways

proteins participating in the Gap-filling DNA repair synthesis and ligation in TC-NER pathway from the Reactome Pathways dataset.

Repair synthesis of patch ~27-30 bases long by DNA polymerase Gene Set

From Reactome Pathways

proteins participating in the Repair synthesis of patch ~27-30 bases long by DNA polymerase pathway from the Reactome Pathways dataset.

Telomere C-strand (Lagging Strand) Synthesis Gene Set

From Reactome Pathways

proteins participating in the Telomere C-strand (Lagging Strand) Synthesis pathway from the Reactome Pathways dataset.

Synthesis of very long-chain fatty acyl-CoAs Gene Set

From Reactome Pathways

proteins participating in the Synthesis of very long-chain fatty acyl-CoAs pathway from the Reactome Pathways dataset.

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. Gene Set

From Reactome Pathways

proteins participating in the Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway from the Reactome Pathways dataset.

Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) Gene Set

From Reactome Pathways

proteins participating in the Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) pathway from the Reactome Pathways dataset.

Biogenic Amine Synthesis(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Biogenic Amine Synthesis(Mus musculus) pathway from the Wikipathways Pathways dataset.

Triacylglyceride Synthesis(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Triacylglyceride Synthesis(Mus musculus) pathway from the Wikipathways Pathways dataset.

Prostaglandin Synthesis and Regulation(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Prostaglandin Synthesis and Regulation(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Synthesis and Degradation of Ketone Bodies(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Synthesis and Degradation of Ketone Bodies(Mus musculus) pathway from the Wikipathways Pathways dataset.

Prostaglandin Synthesis and Regulation(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Prostaglandin Synthesis and Regulation(Mus musculus) pathway from the Wikipathways Pathways dataset.

Biogenic Amine Synthesis(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Biogenic Amine Synthesis(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Synthesis and Degradation of Ketone Bodies(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Synthesis and Degradation of Ketone Bodies(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Acetylcholine Synthesis(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Acetylcholine Synthesis(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Acetylcholine Synthesis(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Acetylcholine Synthesis(Mus musculus) pathway from the Wikipathways Pathways dataset.

Eicosanoid Synthesis(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Eicosanoid Synthesis(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Triacylglyceride Synthesis(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Triacylglyceride Synthesis(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Eicosanoid Synthesis(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Eicosanoid Synthesis(Mus musculus) pathway from the Wikipathways Pathways dataset.

Dandy-Walker like malformation with atrioventricular septal defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dandy-Walker like malformation with atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Protan defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Protan defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiac conduction defect, nonspecific Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiac conduction defect, nonspecific phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 7 with or without atrioventricular conduction defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphate transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ventricular septal defect 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ventricular septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ventricular septal defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ventricular septal defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Laron-type isolated somatotropin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Laron-type isolated somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neural tube defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neural tube defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose-6-phosphate transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose-6-phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iodotyrosine deiodination defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iodotyrosine deiodination defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal carnitine transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal carnitine transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to defect in cd3-zeta Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte lactate transporter defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oocyte maturation defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iodotyrosyl coupling defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iodotyrosyl coupling defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset.

Sacral defect and anterior sacral meningocele Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset.

Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.

Cardiac Conduction Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiac Conduction Defect from the curated CTD Gene-Disease Associations dataset.

Atrial septal defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial septal defect 2 from the curated CTD Gene-Disease Associations dataset.

ATRIOVENTRICULAR SEPTAL DEFECT 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ATRIOVENTRICULAR SEPTAL DEFECT 3 from the curated CTD Gene-Disease Associations dataset.

Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome from the curated CTD Gene-Disease Associations dataset.

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 4 from the curated CTD Gene-Disease Associations dataset.

Atrioventricular Canal Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrioventricular Canal Defect from the curated CTD Gene-Disease Associations dataset.

Neural tube defect, folate-sensitive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neural tube defect, folate-sensitive from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 6 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.

Immunodeficiency due to Defect in CD3-Zeta Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 5 from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 1 from the curated CTD Gene-Disease Associations dataset.

Erythrocyte Lactate Transporter Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Erythrocyte Lactate Transporter Defect from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset.

atrial heart septal defect Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease atrial heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

heart septal defect Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ventricular septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

alcohol-related birth defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

atrioventricular septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

atrial heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease atrial heart septal defect 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.

human spermatogenic defect Gene Set

From GAD Gene-Disease Associations

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

defect Gene Set

From GeneRIF Biological Term Annotations

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

conotruncal defect Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the conotruncal defect phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

thyroid hormone receptor defect Gene Set

From HPO Gene-Disease Associations

genes associated with the thyroid hormone receptor defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

midline defect of mandible Gene Set

From HPO Gene-Disease Associations

genes associated with the midline defect of mandible phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

vertebral segmentation defect Gene Set

From HPO Gene-Disease Associations

genes associated with the vertebral segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

electron transfer flavoprotein-ubiquinone oxidoreductase defect Gene Set

From HPO Gene-Disease Associations

genes associated with the electron transfer flavoprotein-ubiquinone oxidoreductase defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

secundum atrial septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the secundum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dynein arm defect of respiratory motile cilia Gene Set

From HPO Gene-Disease Associations

genes associated with the dynein arm defect of respiratory motile cilia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

inlet ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the inlet ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thyroid defect in oxidation and organification of iodide Gene Set

From HPO Gene-Disease Associations

genes associated with the thyroid defect in oxidation and organification of iodide phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

adrenocorticotropin (acth) receptor (acthr) defect Gene Set

From HPO Gene-Disease Associations

genes associated with the adrenocorticotropin (acth) receptor (acthr) defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

sacral segmentation defect Gene Set

From HPO Gene-Disease Associations

genes associated with the sacral segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abdominal wall defect Gene Set

From HPO Gene-Disease Associations

genes associated with the abdominal wall defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

visual field defect Gene Set

From HPO Gene-Disease Associations

genes associated with the visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

atrioventricular canal defect with right ventricle aorta and pulmonary atresia Gene Set

From HPO Gene-Disease Associations

genes associated with the atrioventricular canal defect with right ventricle aorta and pulmonary atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

muscular ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the muscular ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defect in the atrial septum Gene Set

From HPO Gene-Disease Associations

genes associated with the defect in the atrial septum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

skull defect Gene Set

From HPO Gene-Disease Associations

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

generalized hypotonia due to defect at the neuromuscular junction Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cervical segmentation defect Gene Set

From HPO Gene-Disease Associations

genes associated with the cervical segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

atrioventricular canal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

perimembranous ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the perimembranous ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

midline defect of the nose Gene Set

From HPO Gene-Disease Associations

genes associated with the midline defect of the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

complete atrioventricular canal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the complete atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

large central visual field defect Gene Set

From HPO Gene-Disease Associations

genes associated with the large central visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

conotruncal defect Gene Set

From HPO Gene-Disease Associations

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

primum atrial septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the primum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Mannose-P-dolichol utilization defect 1 protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mannose-P-dolichol utilization defect 1 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

perimembraneous ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

inlet ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

double outlet right ventricle with atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the double outlet right ventricle with atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

iodide oxidation defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the iodide oxidation defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

aorticopulmonary septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the aorticopulmonary septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

double outlet right ventricle, ventricular defect committed to aorta Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the double outlet right ventricle, ventricular defect committed to aorta phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

muscular ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ostium primum atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

complete atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ostium secundum atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ostium secundum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thrombophilia due to thrombomodulin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder due to p2rx1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

schizophrenia, neurophysiologic defect in Gene Set

From OMIM Gene-Disease Associations

genes associated with the schizophrenia, neurophysiologic defect in phenotype from the curated OMIM Gene-Disease Associations dataset.

{atrioventricular septal defect, susceptibility to, 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {atrioventricular septal defect, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

?isolated growth hormone deficiency due to defect in ghrf Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

erythrocyte lactate transporter defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocyte lactate transporter defect phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

ventricular septal defect 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

selective t-cell defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the selective t-cell defect phenotype from the curated OMIM Gene-Disease Associations dataset.

{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular septal defect 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardiac conduction defect, nonspecific Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardiac conduction defect, nonspecific phenotype from the curated OMIM Gene-Disease Associations dataset.

rickets due to defect in vitamin d 25-hydroxylation Gene Set

From OMIM Gene-Disease Associations

genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset.

{atrioventricular septal defect, susceptibility to, 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {atrioventricular septal defect, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

oocyte maturation defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the oocyte maturation defect phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, x-linked, due to factor ix defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 7, with or without av conduction defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to defect in mapbp-interacting protein Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.

goiter, familial, due to ttf-1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

{cardiac conduction defect, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {cardiac conduction defect, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

polylactic acid-polyglycolic acid copolymer Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical polylactic acid-polyglycolic acid copolymer from the curated CTD Gene-Chemical Interactions dataset.

N-(Allyloxycarbonyl)-4-[N-(Carboxy-Formyl)-2-(Benzoic Acid)-Amino]-L-Phenylalaninyl-Amino-Butyloxy-(6-Hydroxy-Benzoic Acid Methyl Ester) Gene Set

From DrugBank Drug Targets

interacting proteins for the N-(Allyloxycarbonyl)-4-[N-(Carboxy-Formyl)-2-(Benzoic Acid)-Amino]-L-Phenylalaninyl-Amino-Butyloxy-(6-Hydroxy-Benzoic Acid Methyl Ester) drug from the curated DrugBank Drug Targets dataset.

5-(DIMETHYLAMINO)-1-NAPHTHALENESULFONIC ACID(DANSYL ACID) Gene Set

From DrugBank Drug Targets

interacting proteins for the 5-(DIMETHYLAMINO)-1-NAPHTHALENESULFONIC ACID(DANSYL ACID) drug from the curated DrugBank Drug Targets dataset.

amino acid disorder, nos; amino acid metabolism, inborn errors; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amino acid disorder, nos; amino acid metabolism, inborn errors; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cholesterol, hdl; triglycerides; cholesterol, ldl; lipoprotein; fatty acid; uric acid Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, hdl; triglycerides; cholesterol, ldl; lipoprotein; fatty acid; uric acid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amino acid disorder, nos; amino acid metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amino acid disorder, nos; amino acid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty acid elongation, monounsaturated fatty acid Gene Set

From GO Biological Process Annotations

genes participating in the fatty acid elongation, monounsaturated fatty acid biological process from the curated GO Biological Process Annotations dataset.

fatty acid elongation, unsaturated fatty acid Gene Set

From GO Biological Process Annotations

genes participating in the fatty acid elongation, unsaturated fatty acid biological process from the curated GO Biological Process Annotations dataset.

fatty acid elongation, saturated fatty acid Gene Set

From GO Biological Process Annotations

genes participating in the fatty acid elongation, saturated fatty acid biological process from the curated GO Biological Process Annotations dataset.

fatty acid elongation, polyunsaturated fatty acid Gene Set

From GO Biological Process Annotations

genes participating in the fatty acid elongation, polyunsaturated fatty acid biological process from the curated GO Biological Process Annotations dataset.

acid-amino acid ligase activity Gene Set

From GO Molecular Function Annotations

genes performing the acid-amino acid ligase activity molecular function from the curated GO Molecular Function Annotations dataset.

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

From GWAS Catalog SNP-Phenotype Associations

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

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

From GWAS Catalog SNP-Phenotype Associations

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

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

From GWAS Catalog SNP-Phenotype Associations

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

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

From GWAS Catalog SNP-Phenotype Associations

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

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

From GWAS Catalog SNP-Phenotype Associations

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

Amino acid conjugation of benzoic acid(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Amino acid conjugation of benzoic acid(Mus musculus) pathway from the Wikipathways Pathways dataset.

Amino acid conjugation of benzoic acid(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Amino acid conjugation of benzoic acid(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myotonia, autosomal dominant form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myotonia, autosomal dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hyperplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital adrenal hyperplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital human immunodeficiency virus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital human immunodeficiency virus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diarrhea 5, with tufting enteropathy, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diarrhea 5, with tufting enteropathy, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vertical talus, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital generalized lipodystrophy type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital generalized lipodystrophy type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycogen storage disease IV, congenital neuromuscular Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycogen storage disease IV, congenital neuromuscular phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facial paresis, hereditary congenital, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facial paresis, hereditary congenital, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital glucose-galactose malabsorption Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital glucose-galactose malabsorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital sensory neuropathy with selective loss of small myelinated fibers Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital sensory neuropathy with selective loss of small myelinated fibers phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, actin, congenital, with cores Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aphakia, congenital primary Gene Set

From ClinVar Gene-Phenotype Associations

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

Lipodystrophy, congenital generalized, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipodystrophy, congenital generalized, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital contractural arachnodactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital contractural arachnodactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital absence of salivary gland Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital absence of salivary gland phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Merosin deficient congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nystagmus 6, congenital, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nystagmus 6, congenital, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, autosomal dominant 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Afibrinogenemia, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, congenital heart defects, and posterior embryotoxon Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Walker-Warburg congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Walker-Warburg congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 3b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital amegakaryocytic thrombocytopenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital amegakaryocytic thrombocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, fast-channel Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, autosomal recessive congenital 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diarrhea 3, secretory sodium, congenital, syndromic Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diarrhea 3, secretory sodium, congenital, syndromic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital dyserythropoietic anemia, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital dyserythropoietic anemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hypoplasia, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital adrenal hypoplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contracture syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital secretory diarrhea, chloride type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital secretory diarrhea, chloride type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination and Congenital Cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testicular anomalies with or without congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testicular anomalies with or without congenital heart disease 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.

Congenital short bowel syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital heart disease, multiple types, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital heart disease, multiple types, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, slow-channel congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Indifference to pain, congenital, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Indifference to pain, congenital, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, autosomal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contractural syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital heart defects, multiple types, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital heart defects, multiple types, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital erythropoietic porphyria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital erythropoietic porphyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypothyroidism, congenital, nongoitrous, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, congenital, nongoitrous, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypothyroidism, congenital, nongoitrous, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, congenital, nongoitrous, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypothyroidism, congenital, nongoitrous, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, congenital, nongoitrous, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1s Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1s phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1L Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1L phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, actin, congenital, with excess of thin myofilaments Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rett syndrome, congenital variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Eichsfeld type congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Eichsfeld type congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2J Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2L Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2k Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2k phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, congenital, with excess of muscle spindles Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 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.

Congenital myotonia, autosomal recessive form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1Q Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1P Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1P phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1H Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1H phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with tubular aggregates 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1N Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1N phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Finnish congenital nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1v Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1v phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital nuclear, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital nuclear, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations 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.

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adult i Blood Group with or without Congenital Cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adult i Blood Group with or without Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, congenital, compton-north Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital cystic disease of liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital cystic disease of liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pancreatic agenesis and congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type Ix Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type Ix phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital order of glycosylation type 1r Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital order of glycosylation type 1r phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ullrich congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ullrich congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital dyserythropoietic anemia, type II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital dyserythropoietic anemia, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, congenital hypomyelinating, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, congenital hypomyelinating, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital central hypoventilation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital central hypoventilation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital ocular coloboma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital ocular coloboma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1K Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1K phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1J Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1O Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1O phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1G Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1y Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1y phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Digital clubbing, isolated congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Digital clubbing, isolated congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1u Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1u phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1t Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1t 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.

Severe congenital neutropenia 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contracture syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital aniridia Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital long QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital hyperammonemia, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital hyperammonemia, type I 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.

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.

Multiple congenital exostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital exostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 3 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.

Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital microvillous atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital microvillous atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Partial congenital absence of teeth Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial congenital absence of teeth phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital stationary night blindness, type 1C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 4A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 4B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myasthenic syndrome, acetazolamide-responsive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myasthenic syndrome, acetazolamide-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glaucoma, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular hypertrophy-cerebral syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular hypertrophy-cerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital Stromal Corneal Dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital Stromal Corneal Dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myopathy with fiber type disproportion Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital Hyperinsulinism Gene Set

From CTD Gene-Disease Associations

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

Cataract congenital Volkmann type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract congenital Volkmann type 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.

Congenital Hypothyroidism Gene Set

From CTD Gene-Disease Associations

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

Congenital bilateral aplasia of vas deferens Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital bilateral aplasia of vas deferens from the curated CTD Gene-Disease Associations dataset.

Congenital Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Anemia, Hemolytic, Congenital Nonspherocytic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Hemolytic, Congenital Nonspherocytic from the curated CTD Gene-Disease Associations dataset.

Night Blindness, Congenital Stationary, Autosomal Dominant 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset.

Hypothyroidism, Congenital, Nongoitrous, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 4 from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 4 from the curated CTD Gene-Disease Associations dataset.

Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset.

Congenital idiopathic intestinal pseudoobstruction Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital idiopathic intestinal pseudoobstruction from the curated CTD Gene-Disease Associations dataset.

Vertical talus, congenital Gene Set

From CTD Gene-Disease Associations

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

Nystagmus 1, congenital, X- linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 1, congenital, X- linked from the curated CTD Gene-Disease Associations dataset.

Facial paresis, hereditary, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Facial paresis, hereditary, congenital from the curated CTD Gene-Disease Associations dataset.

Congenital anosmia Gene Set

From CTD Gene-Disease Associations

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

Hypothyroidism, Congenital, Nongoitrous, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 5 from the curated CTD Gene-Disease Associations dataset.

Hyperferritinemia, hereditary, with congenital cataracts Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperferritinemia, hereditary, with congenital cataracts from the curated CTD Gene-Disease Associations dataset.

Ichthyosiform erythroderma, Brocq congenital, nonbullous form Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ichthyosiform erythroderma, Brocq congenital, nonbullous form from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Hernias, Diaphragmatic, Congenital Gene Set

From CTD Gene-Disease Associations

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

Congenital Disorder Of Glycosylation, Type IIF Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIF from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1A from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation, type 2C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation, type 2C from the curated CTD Gene-Disease Associations dataset.

Lethal Congenital Contracture Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lethal Congenital Contracture Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Aphakia, congenital primary Gene Set

From CTD Gene-Disease Associations

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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set

From CTD Gene-Disease Associations

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

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.

Nystagmus 2, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 2, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Hypothyroidism, Congenital, Nongoitrous, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 3 from the curated CTD Gene-Disease Associations dataset.

Congenital contractural arachnodactyly Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital contractural arachnodactyly 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.

Congenital disorder of glycosylation type 2D Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 2D from the curated CTD Gene-Disease Associations dataset.

Nystagmus 4, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 4, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 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.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq from the curated CTD Gene-Disease Associations dataset.

Muscular dystrophy congenital, merosin negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular dystrophy congenital, merosin negative from the curated CTD Gene-Disease Associations dataset.

Indifference to Pain, Congenital, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Ptosis, Hereditary Congenital 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ptosis, Hereditary Congenital 1 from the curated CTD Gene-Disease Associations dataset.

Pain Insensitivity, Congenital Gene Set

From CTD Gene-Disease Associations

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

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1G Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1G from the curated CTD Gene-Disease Associations dataset.

Congenital amegakaryocytic thrombocytopenia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital amegakaryocytic thrombocytopenia from the curated CTD Gene-Disease Associations dataset.

Adrenal Hyperplasia, Congenital Gene Set

From CTD Gene-Disease Associations

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

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B from the curated CTD Gene-Disease Associations dataset.

Anemia, Hypoplastic, Congenital Gene Set

From CTD Gene-Disease Associations

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

Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Lipodystrophy, Congenital Generalized Gene Set

From CTD Gene-Disease Associations

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

Congenital hypertrichosis lanuginosa Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital hypertrichosis lanuginosa from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 10 from the curated CTD Gene-Disease Associations dataset.

Hypothyroidism, Congenital, Nongoitrous, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 2 from the curated CTD Gene-Disease Associations dataset.

Myopathy, Congenital, Compton-North Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 3 from the curated CTD Gene-Disease Associations dataset.

Congenital Disorder of Glycosylation, Type Io Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder of Glycosylation, Type Io 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.

Congenital central hypoventilation syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital central hypoventilation syndrome from the curated CTD Gene-Disease Associations dataset.

Congenital Disorder Of Glycosylation, Type Im Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type Im from the curated CTD Gene-Disease Associations dataset.

Congenital Disorder Of Glycosylation, Type In Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type In from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Zonular, with Sutural Opacities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Zonular, with Sutural Opacities from the curated CTD Gene-Disease Associations dataset.

Lethal congenital contracture syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lethal congenital contracture syndrome 1 from the curated CTD Gene-Disease Associations dataset.

Microcoria, congenital Gene Set

From CTD Gene-Disease Associations

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

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset.

Anemia, Hemolytic, Congenital Gene Set

From CTD Gene-Disease Associations

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

Muscular Dystrophy, Congenital, 1B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, 1B from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 14 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 14 from the curated CTD Gene-Disease Associations dataset.

ADRENAL HYPOPLASIA, CONGENITAL Gene Set

From CTD Gene-Disease Associations

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

Congenital disorder of glycosylation type 1H Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1H from the curated CTD Gene-Disease Associations dataset.

Ptosis, Hereditary Congenital 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ptosis, Hereditary Congenital 2 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset.

Diarrhea 4, Malabsorptive, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diarrhea 4, Malabsorptive, Congenital from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1J Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1J from the curated CTD Gene-Disease Associations dataset.

CAPILLARY MALFORMATIONS, CONGENITAL Gene Set

From CTD Gene-Disease Associations

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

Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1B from the curated CTD Gene-Disease Associations dataset.

Nephrosis, congenital Gene Set

From CTD Gene-Disease Associations

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

Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

GLAUCOMA 3, PRIMARY CONGENITAL, C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLAUCOMA 3, PRIMARY CONGENITAL, C from the curated CTD Gene-Disease Associations dataset.

Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 2A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 2A from the curated CTD Gene-Disease Associations dataset.

ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 2E Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 2E from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Merosin-Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Merosin-Positive from the curated CTD Gene-Disease Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip from the curated CTD Gene-Disease Associations dataset.

Myopathies, Structural, Congenital Gene Set

From CTD Gene-Disease Associations

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

Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset.

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1F Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1F from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Recessive Congenital 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Recessive Congenital 3 from the curated CTD Gene-Disease Associations dataset.

Congenital myasthenic syndrome with episodic apnea Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital myasthenic syndrome with episodic apnea from the curated CTD Gene-Disease Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj from the curated CTD Gene-Disease Associations dataset.

Preauricular Fistulae, Congenital Gene Set

From CTD Gene-Disease Associations

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

Leber Congenital Amaurosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis from the curated CTD Gene-Disease Associations dataset.

Lower Extremity Deformities, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lower Extremity Deformities, Congenital from the curated CTD Gene-Disease Associations dataset.

Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset.

NYSTAGMUS 5, CONGENITAL, X-LINKED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NYSTAGMUS 5, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset.

Night blindness, congenital stationary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Night blindness, congenital stationary from the curated CTD Gene-Disease Associations dataset.

Fibrosis of Extraocular Muscles, Congenital, 3B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrosis of Extraocular Muscles, Congenital, 3B 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.

Congenital myasthenic syndrome ib Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital myasthenic syndrome ib from the curated CTD Gene-Disease Associations dataset.

Polycythemia, primary familial and congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset.

Marie Unna congenital hypotrichosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Marie Unna congenital hypotrichosis from the curated CTD Gene-Disease Associations dataset.

NYSTAGMUS 6, CONGENITAL, X-LINKED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NYSTAGMUS 6, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset.

Nystagmus 3, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 3, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 12 from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 13 from the curated CTD Gene-Disease Associations dataset.

Congenital atransferrinemia Gene Set

From CTD Gene-Disease Associations

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

Congenital disorder of glycosylation type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type II from the curated CTD Gene-Disease Associations dataset.

Fibrosis Of Extraocular Muscles, Congenital, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 2 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset.

ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR from the curated CTD Gene-Disease Associations dataset.

RETT SYNDROME, CONGENITAL VARIANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RETT SYNDROME, CONGENITAL VARIANT from the curated CTD Gene-Disease Associations dataset.

Myasthenic syndrome, congenital, postsynaptic slow-channel Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myasthenic syndrome, congenital, postsynaptic slow-channel from the curated CTD Gene-Disease Associations dataset.

Nystagmus, Congenital Gene Set

From CTD Gene-Disease Associations

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

Congenital disorder of glycosylation type 1K Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1K from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1L Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1L from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1C from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1E Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1E from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1D Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1D from the curated CTD Gene-Disease Associations dataset.

Myasthenic Syndromes, Congenital Gene Set

From CTD Gene-Disease Associations

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

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Congenital Stromal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Congenital Stromal from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset.

Hand Deformities, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hand Deformities, Congenital 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.

LEBER CONGENITAL AMAUROSIS 15 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LEBER CONGENITAL AMAUROSIS 15 from the curated CTD Gene-Disease Associations dataset.

Diarrhea 3, Secretory Sodium, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diarrhea 3, Secretory Sodium, Congenital from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation, type 2G Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation, type 2G from the curated CTD Gene-Disease Associations dataset.

Limb Deformities, Congenital Gene Set

From CTD Gene-Disease Associations

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

Pancreatic Agenesis, Congenital Gene Set

From CTD Gene-Disease Associations

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

Hypertrichosis congenital generalized X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertrichosis congenital generalized X-linked from the curated CTD Gene-Disease Associations dataset.

Nail dysplasia, isolated congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset.

Foot Deformities, Congenital Gene Set

From CTD Gene-Disease Associations

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

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset.

Lethal Congenital Contractural Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lethal Congenital Contractural Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.

Heart Defects, Congenital Gene Set

From CTD Gene-Disease Associations

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

Glaucoma 3, Primary Congenital, D Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 3, Primary Congenital, D from the curated CTD Gene-Disease Associations dataset.

Glaucoma 3, Primary Congenital, A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 3, Primary Congenital, A from the curated CTD Gene-Disease Associations dataset.

Adrenal hyperplasia, congenital, type 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adrenal hyperplasia, congenital, type 5 from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Congenital Nonprogressive from the curated CTD Gene-Disease Associations dataset.

Cataract, congenital, with microcornea or slight microphthalmia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, congenital, with microcornea or slight microphthalmia 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.

Lipoid congenital adrenal hyperplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipoid congenital adrenal hyperplasia from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 from the curated CTD Gene-Disease Associations dataset.

Myasthenic Syndrome, Congenital, Fast-Channel Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myasthenic Syndrome, Congenital, Fast-Channel from the curated CTD Gene-Disease Associations dataset.

Congenital Disorder Of Glycosylation, Type IIH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIH 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.

Retinal Nonattachment, Nonsyndromic Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal Nonattachment, Nonsyndromic Congenital from the curated CTD Gene-Disease Associations dataset.

SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset.

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Woolly hair, congenital Gene Set

From CTD Gene-Disease Associations

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

Glycogen Storage Disease of Heart, Lethal Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycogen Storage Disease of Heart, Lethal Congenital from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Diarrhea 5, With Tufting Enteropathy, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diarrhea 5, With Tufting Enteropathy, Congenital from the curated CTD Gene-Disease Associations dataset.

Afibrinogenemia congenital Gene Set

From CTD Gene-Disease Associations

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

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset.

CATARACT, CONGENITAL OR JUVENILE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CATARACT, CONGENITAL OR JUVENILE from the curated CTD Gene-Disease Associations dataset.

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

Lipodystrophy, Congenital Generalized, Type 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 3 from the curated CTD Gene-Disease Associations dataset.

Lipodystrophy, Congenital Generalized, Type 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 4 from the curated CTD Gene-Disease Associations dataset.

Night Blindness, Congenital Stationary, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

Anemia, Dyserythropoietic, Congenital Gene Set

From CTD Gene-Disease Associations

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

Congenital Disorder Of Glycosylation, Type IIB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIB from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.

Hyperostosis, Cortical, Congenital Gene Set

From CTD Gene-Disease Associations

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

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B from the curated CTD Gene-Disease Associations dataset.

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C from the curated CTD Gene-Disease Associations dataset.

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Lmna-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Lmna-Related from the curated CTD Gene-Disease Associations dataset.

congenital afibrinogenemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

congenital disorder of glycosylation Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital disorder of glycosylation from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital heart disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

ullrich congenital muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease ullrich congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital diaphragmatic hernia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital diaphragmatic hernia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

fukuyama congenital muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease fukuyama congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital dyserythropoietic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital dyserythropoietic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

severe congenital neutropenia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

congenital generalized lipodystrophy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital generalized lipodystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital hemolytic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital hemolytic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital structural myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital structural myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital nervous system abnormality Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital nervous system abnormality from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital hypoplastic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital hypoplastic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital hypothyroidism Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

congenital myasthenic syndrome Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital myasthenic syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

leber congenital amaurosis Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease leber congenital amaurosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital stationary night blindness Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital stationary night blindness from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital ichthyosiform erythroderma Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital ichthyosiform erythroderma from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

late congenital syphilis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital disorder of glycosylation Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital disorder of glycosylation type ii Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital disorder of glycosylation type ii in abstracts of biomedical publications from the DISEASES Text-mining 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.

congenital generalized lipodystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital structural myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital nervous system abnormality Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital afibrinogenemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital granular cell tumor Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital hypogammaglobulinemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital syphilis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ullrich congenital muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital heart block Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

severe congenital neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital hypoplastic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital adrenal insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital stationary night blindness Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital ichthyosiform erythroderma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital nonspherocytic hemolytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital toxoplasmosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital mesoblastic nephroma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital heart disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital dyserythropoietic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital epulis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital hemolytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital nystagmus Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital myasthenic syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital diaphragmatic hernia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

fukuyama congenital muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital fibrosarcoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital aphakia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cellular congenital mesoblastic nephroma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

primary congenital glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital disorder of glycosylation type i Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital disorder of glycosylation type i in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital hypothyroidism Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

leber congenital amaurosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

primary congenital glaucoma Gene Set

From GAD Gene-Disease Associations

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

arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, primary open-angle; glaucoma, primary congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, primary open-angle; glaucoma, primary congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i Gene Set

From GAD Gene-Disease Associations

genes associated with the disease retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital nuclear cataract Gene Set

From GAD Gene-Disease Associations

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

congenital heart defects Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital central hypoventilation syndrome Gene Set

From GAD Gene-Disease Associations

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

limb deformities, congenital; rothmund-thomson syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease limb deformities, congenital; rothmund-thomson syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital neutropenia Gene Set

From GAD Gene-Disease Associations

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

nephropathy, congenital obstructive Gene Set

From GAD Gene-Disease Associations

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

chuvash-type congenital polycythemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chuvash-type congenital polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital fibrosis of extraocular muscles type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital fibrosis of extraocular muscles type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital adrenal hyperplasia (cah) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital adrenal hyperplasia (cah) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

phenytoin-induced congenital malformations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease phenytoin-induced congenital malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital cardiac malformations Gene Set

From GAD Gene-Disease Associations

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

eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; hyperandrogenism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; hyperandrogenism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital nephrosis Gene Set

From GAD Gene-Disease Associations

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

hip dislocation, congenital; joint instability Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hip dislocation, congenital; joint instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital thrombotic thrombocytopenic purpura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital thrombotic thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dilatation, pathologic; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dilatation, pathologic; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; congenital abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; congenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arteriovenous malformations; congenital arteriovenous malformation; hemorrhage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital megacolon; enterocolitis; hirschsprung disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital megacolon; enterocolitis; hirschsprung disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital megacolon; hirschsprung disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital megacolon; hirschsprung disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, primary congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, primary congenital 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.

toxoplasmosis, cerebral; toxoplasmosis, congenital; toxoplasmosis, ocular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease toxoplasmosis, cerebral; toxoplasmosis, congenital; toxoplasmosis, ocular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ullrich congenital muscular dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ullrich congenital muscular dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

toxoplasmosis, congenital Gene Set

From GAD Gene-Disease Associations

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

cardiomyopathies; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathies; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy; heart anomalies, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy; heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital Gene Set

From GAD Gene-Disease Associations

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

adenoma; adrenal gland neoplasms; adrenal hyperplasia, congenital; hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenoma; adrenal gland neoplasms; adrenal hyperplasia, congenital; hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

isolated congenital pituitary hypoplasia and septo-optic dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease isolated congenital pituitary hypoplasia and septo-optic dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital bilateral absence of the vas deferens Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital bilateral absence of the vas deferens in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital abnormalities; Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital hypothyroidism Gene Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart anomalies, congenital Gene Set

From GAD Gene-Disease Associations

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

cystic kidney diseases; kidney diseases, cystic; leber congenital amaurosis; optic atrophies, hereditary; vision disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic kidney diseases; kidney diseases, cystic; leber congenital amaurosis; optic atrophies, hereditary; vision disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital fibrosis of the extraocular muscles Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital fibrosis of the extraocular muscles in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital haptoglobin deficiency Gene Set

From GAD Gene-Disease Associations

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

chorioretinitis; toxoplasmosis, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chorioretinitis; toxoplasmosis, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; autoimmune diseases; opportunistic infections; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; autoimmune diseases; opportunistic infections; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital abnormalities; mental retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital abnormalities; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

wilms' tumor and congenital male genitourinary malformation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease wilms' tumor and congenital male genitourinary malformation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital and subclinical hypothyroidism Gene Set

From GAD Gene-Disease Associations

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

late-onset congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease late-onset congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital ductus arteriosus aneurysm Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital ductus arteriosus aneurysm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital primary hypothyroidism Gene Set

From GAD Gene-Disease Associations

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

congenital abnormalities Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

congenital anomalies Gene Set

From GAD Gene-Disease Associations

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

congenital sick sinus syndrome Gene Set

From GAD Gene-Disease Associations

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

disease models, animal; ichthyosiform erythroderma, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease disease models, animal; ichthyosiform erythroderma, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital abnormalities; hypothyroidism; thyroid dysgenesis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital abnormalities; hypothyroidism; thyroid dysgenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital megacolon; hirschsprung disease; urea cycle disorders, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital megacolon; hirschsprung disease; urea cycle disorders, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ichthyosiform erythroderma, congenital Gene Set

From GAD Gene-Disease Associations

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

hip dislocation, congenital Gene Set

From GAD Gene-Disease Associations

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

down syndrome; heart defects, congenital; hypertension, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital; hypertension, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital anomalies; cleft lip with or without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital anomalies; cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leber congenital amaurosis and a normal ocular phenotype Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leber congenital amaurosis and a normal ocular phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital anomalies; renal disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital anomalies; renal disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital athyreosis Gene Set

From GAD Gene-Disease Associations

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

heart anomalies, congenital; pulmonary hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital; pulmonary hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital contractural arachnodactyly Gene Set

From GAD Gene-Disease Associations

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

thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital hypothyroidism; thyroid dysgenesis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital hypothyroidism; thyroid dysgenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent Gene Set

From GAD Gene-Disease Associations

genes associated with the disease double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital polycythemia. Gene Set

From GAD Gene-Disease Associations

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

autoimmune-associated congenital heart block. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune-associated congenital heart block. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leber congenital amaurosis/lca Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leber congenital amaurosis/lca in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart disease Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital uropathies Gene Set

From GAD Gene-Disease Associations

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

congenital cataracts Gene Set

From GAD Gene-Disease Associations

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

congenital hypothyroidism; cretinism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital hypothyroidism; cretinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leber congenital amaurosis Gene Set

From GAD Gene-Disease Associations

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

heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital Gene Set

From GeneRIF Biological Term Annotations

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

Leber congenital amaurosis_Retina_GSE3249 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Leber congenital amaurosis_Retina_GSE3249 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Congenital heart malformation Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Congenital heart malformation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Congenital heart disease Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Congenital heart disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

congenital heart disease Gene Set

From GWASdb SNP-Disease Associations

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

congenital hemolytic anemia Gene Set

From GWASdb SNP-Disease Associations

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