TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: 3-Methylglutaconic aciduria type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.010 GeneticVariation disease BEFREE Serial retrospective evaluations showed full characteristic features of TMEM70 and TAZ mutations (Barth syndrome) in these three patients, including a clearly abnormal monolysocardiolipin/cardiolipin ratio in the two Barth syndrome patients. 31729175 2020