rs104894080, GDAP1

N. diseases: 9
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
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
0.700 CausalMutation CLINVAR
Serum alkaline phosphatase raised
CUI: C1314665
Disease: Serum alkaline phosphatase raised
0.700 CausalMutation CLINVAR
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
0.700 CausalMutation CLINVAR
Charcot-Marie-Tooth Disease, Recessive Intermediate A
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
0.700 CausalMutation CLINVAR
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
0.700 CausalMutation CLINVAR
Sensory neuropathy
CUI: C0151313
Disease: Sensory neuropathy
0.700 CausalMutation CLINVAR
Peripheral axonal neuropathy
CUI: C1263857
Disease: Peripheral axonal neuropathy
0.700 CausalMutation CLINVAR
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
0.010 GeneticVariation BEFREE In contrast to CMT4A caused by the S194X and Q163X mutations, the CMT phenotype resulting from the L239F substitution represents a milder clinical entity with a long-preserved period of ambulance at least until the end of the second decade of life. 20232219 2010