Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease 0.640 None 1.000 0 7 1999 2015
Entrez Id: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.500 None 0.975 0 3 1994 2020
Entrez Id: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group 0.120 None 1.000 0 2 2001 2017
Entrez Id: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 0.100 None 0 6
Entrez Id: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		phenotype 0.100 None 0 10
Entrez Id: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		disease 0.100 None 0 10