rs797044846, PMP22

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
0.700 CausalMutation CLINVAR
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
0.010 GeneticVariation BEFREE We describe a novel heterozygous p.Trp39Cys missense mutation in the extracellular domain of the peripheral myelin protein 22 (PMP22) associated with an early-onset demyelinating CMT type 1 E (CMT1E) in two siblings born from asymptomatic non-consanguineous parents. 23279344 2012