Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515442
rs397515442
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		G 0.700 CausalMutation CLINVAR CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration. 28220846

2017
dbSNP: rs397515442
rs397515442
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		G 0.700 CausalMutation CLINVAR GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course. 26525999

2016
dbSNP: rs397515442
rs397515442
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		G 0.700 CausalMutation CLINVAR Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. 23963299

2014
dbSNP: rs397515442
rs397515442
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		G 0.700 CausalMutation CLINVAR Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland. 23456260

2013
dbSNP: rs397515442
rs397515442
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		G 0.700 CausalMutation CLINVAR Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. 21753178

2011