JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.030 GeneticVariation disease BEFREE Impaired HDL2-mediated cholesterol efflux is associated with metabolic syndrome in families with early onset coronary heart disease and low HDL-cholesterol level. 28207870 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.030 GeneticVariation disease BEFREE The family at increased risk for future coronary heart disease is the family with a member who has 1) had one or more myocardial infarctions before age 55 years; 2) has levels of LDL cholesterol greater than 75th percentile for age; 3) has excessively low levels of HDL2 cholesterol; 4) has hypertension or has had a stroke, or both; 5) has excessive weight at any age and excessive weight gain during adulthood, or 6) smokes in the household. 2971084 1988
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.030 AlteredExpression disease BEFREE These findings suggest that low levels of HDL2-C in children may identify families in which there is an increased risk of coronary heart disease and that parental smoking may contribute to changes in this risk factor in the children of smokers as well as in the smokers themselves. 3808790 1987