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: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.800 GeneticVariation UNIPROT Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants. 28244113

2017
dbSNP: rs397515442
rs397515442
GDAP1
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.800 GeneticVariation UNIPROT GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course. 26525999

2016
dbSNP: rs397515442
rs397515442
GDAP1
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.800 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
dbSNP: rs397515442
rs397515442
GDAP1
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.800 GeneticVariation UNIPROT 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: rs397515442
rs397515442
GDAP1
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		0.800 GeneticVariation UNIPROT GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. 15772096

2005
dbSNP: rs397515442
rs397515442
GDAP1
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		G 0.800 CausalMutation CLINVAR