Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894078
rs104894078
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 22971097

2012
dbSNP: rs104894078
rs104894078
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. 21753178

2011
dbSNP: rs104894078
rs104894078
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells. 21890626

2011
dbSNP: rs104894078
rs104894078
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. 21199105

2010
dbSNP: rs104894078
rs104894078
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. 19782751

2009
dbSNP: rs104894078
rs104894078
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease. 18021315

2008
dbSNP: rs104894078
rs104894078
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. 15805163

2005
dbSNP: rs104894078
rs104894078
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR CMT4A: identification of a Hispanic GDAP1 founder mutation. 12601710

2003
dbSNP: rs104894078
rs104894078
GDAP1
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		T 0.700 CausalMutation CLINVAR Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. 14561495

2003