TMEM126B, transmembrane protein 126B, 55863

N. diseases: 56; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030552
Disease: Paresis
Paresis
0.010 Biomarker phenotype BEFREE Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. 27374773 2016