TAZ, tafazzin, 6901

N. diseases: 4; N. variants: 24
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: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 1 22 0.800 strong 0.979 16 22 1991 2020
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 45 172 0.500 None 1.000 0 1 2003 2020
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 43 443 0.190 None 1.000 6 6 1973 2018
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 63 77 0.100 None 0 1