rs80338933, SH3TC2

N. diseases: 8
Disease: Charcot-Marie-Tooth disease type 4 ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
0.700 CausalMutation CLINVAR Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 18511281 2008