JPH1, junctophilin 1, 56704

N. diseases: 29; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy
0.010 Biomarker disease BEFREE CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. 28495047 2017