Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864622501
rs864622501
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
CUI: C1859198
Disease:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		A 0.700 CausalMutation CLINVAR The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. 20685671 2010
dbSNP: rs864622501
rs864622501
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
CUI: C1859198
Disease:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		A 0.700 CausalMutation CLINVAR Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. 12566285 2003
dbSNP: rs864622501
rs864622501
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
CUI: C1859198
Disease:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		A 0.700 CausalMutation CLINVAR The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. 11743580 2002