HHEX, hematopoietically expressed homeobox, 3087

N. diseases: 73; N. variants: 2
Disease: Familial hypercholesterolemia - heterozygous ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		0.010 GeneticVariation disease BEFREE Combined heteroduplex single-strand conformation polymorphism (HEX-SSCP) analysis of the promoter and coding region of the low density lipoprotein receptor (LDLR) gene revealed a novel C to T mutation at nucleotide position 2056 in a Costa Rican patient with heterozygous familial hypercholesterolemia (FH). 9500809 1997