COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 6; N. variants: 74
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 19 36 0.640 None 1.000 0 7 1999 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 43 100 0.500 None 0.975 0 3 1994 2020
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 27 70 0.120 None 1.000 0 2 2001 2017
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 18 28 0.100 None 0 6
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		phenotype Anatomical Abnormality 4 10 0.100 None 0 10
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		disease Disease or Syndrome 4 12 0.100 None 0 10