RECQL5, RecQ like helicase 5, 9400

N. diseases: 28; N. variants: 2
Disease: Myocardial Infarction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 Biomarker disease BEFREE Quantitative RT-PCR analysis of RECQL5 exon 12 demonstrated that individuals whose genotype is mutant homozygote had only trace amounts of mRNA containing this exon and the family members who carry the heterozygous genotype had a level at 48% to 55% of the control's level.These findings provide insight into both the pathogenesis of MI and the role of RECQL5 gene in human disease. 26844521 2016