Gene: TMEM126B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B 		0.110 GeneticVariation group BEFREE Here, we describe the clinical, biochemical, and molecular findings in six cases of mitochondrial disease from four unrelated families affected by biallelic (c.635G>T [p.Gly212Val] and/or c.401delA [p.Asn134Ilefs(∗)2]) TMEM126B variants. 27374774 2016
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B 		0.110 CausalMutation group CLINVAR Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. 27374774 2016