JPH1, junctophilin 1, 56704

N. diseases: 29; N. variants: 4
Disease: Neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 Biomarker group BEFREE Electro-physiologic studies revealed an axonal type of neuropathy (AR-CMT2K and AD-CMT2K) in all affected individuals. 29372391 2018