JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
Disease: Muscle Rigidity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.110 GeneticVariation phenotype BEFREE Analysis of our kindred indicates that JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent. 22447335 2012
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.110 Biomarker phenotype HPO