TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: 3-Methylglutaconic Aciduria Type IV ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		0.030 GeneticVariation disease BEFREE Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. 23382305 2013
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		0.030 GeneticVariation disease BEFREE In the light of recent reports linking cases of type IV 3-methylglutaconic aciduria (3-MGCA) and hypertrophic cardiomyopathy to mutations in TMEM70, we proceeded with sequencing analysis of this gene. 20728387 2011
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		0.030 Biomarker disease BEFREE Depending on the clinical and biochemical phenotype we suggest POLG1, SUCLA2, TMEM70 and RYR1 sequence analysis and mtDNA-depletion studies in children with 3-methylglutaconic aciduria type IV. 19015156 2009