GJC2, gap junction protein gamma 2, 57165

N. diseases: 115; N. variants: 20
Disease: X-linked hereditary motor and sensory neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551551
Disease: X-linked hereditary motor and sensory neuropathy
X-linked hereditary motor and sensory neuropathy 		0.010 GeneticVariation disease BEFREE Alterations in metabolic coupling have been reported in animal models of X-linked Charcot-Marie-Tooth disease (CMTX) and Pelizaeus-Merzbarcher-like disease (PMLD), which are caused by mutations in the genes encoding for connexin 32 and connexin 47 respectively. 22326946 2013