Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5827
Gene Symbol: PXMP2
PXMP2
0.020 GeneticVariation group BEFREE In particular the absence of molecular changes in the PMP-22 gene definitively sets HMSN with MOs apart from the more common CMT1A, hereditary neuropathy with liability to pressure palsies (HNPP) and progressive sensory-motor polyneuropathy with tomaculous changes at sural nerve biopsy. 7478198 1995
Entrez Id: 5827
Gene Symbol: PXMP2
PXMP2
0.020 Biomarker group BEFREE The genetic study failed to demonstrate either the duplication in chromosome 17p11.2 or the mutations at exons 1 and 2 of the myelin protein gene, PMP-22, recently observed in HMSN type Ia, and suggested an autosomal recessive (AR) inheritance. 8195799 1994