JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
Disease: Dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia 		0.120 GeneticVariation disease 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: C0497327
Disease: Dementia
Dementia 		0.120 Biomarker disease LHGDN A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features. 17708569 2007
CUI: C0497327
Disease: Dementia
Dementia 		0.120 Biomarker disease HPO