LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0741026
Disease: Atypical angina
Atypical angina
0.010 GeneticVariation disease BEFREE A novel homozygous 1439 C-->T mutation of the LDL-R gene was detected in the patient and his family.ECG showed atypical angina pectoris. 18701038 2008