rs104894080, GDAP1

N. diseases: 9
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
0.700 CausalMutation CLINVAR Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A. 19500985 2009
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
0.700 CausalMutation CLINVAR Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome. 18504680 2008
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
0.700 CausalMutation CLINVAR Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. 14561495 2003