rs879253869, PMP2

N. diseases: 3
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
CUI: C4748940
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
0.800 GeneticVariation UNIPROT Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. 30249361 2018
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
CUI: C4748940
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
0.800 GeneticVariation UNIPROT A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. 26828946 2016
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
CUI: C4748940
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
0.800 GeneticVariation UNIPROT De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. 27009151 2016
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
CUI: C4748940
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
0.800 GeneticVariation UNIPROT Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
CUI: C4748940
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
0.800 CausalMutation CLINVAR