Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503092
rs1060503092
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4
T 0.700 CausalMutation CLINVAR Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia. 23996628 2013
dbSNP: rs1060503092
rs1060503092
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4
T 0.700 CausalMutation CLINVAR Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. 12872253 2003