TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.010 GeneticVariation disease BEFREE A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy. 23235116 2013