JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
Disease: Avitaminosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376286
Disease: Avitaminosis
Avitaminosis 		0.010 Biomarker disease BEFREE We first identified 3 patients with abnormal CTG expansions in JPH3, a fourth patient with an antiphospholipid syndrome, and a fifth patient with B12 avitaminosis. 27400454 2016