Type	Entity	Source evidence	Confidence	Extractor
gene	LDLR	“We also identified several rare, intermediate, and most common gene variants in cholesterol associated genes LDLR, LDLRAD2, LDLRAD3, APOA2, APOA3, APOA4, APOA5, and PCSK9.”	0.98	hgnc_dict_v1
phenotype	stroke	“Clinical exome sequencing identifies novel gene variants associated with ischemic stroke in the Saudi Tabuk population.”	0.98	phenotype_alias_lexicon_v2
gene	GSTT4	“RESULTS: Results identified 11 novel gene variants in the GSTT4 gene by targeted whole-exome sequencing, including one deletion GSTT4p.Asn232LysfsTer6, one insertion c.688_689insCG, and 9 SNVs c.699 T > C, c.701C > G, c.708G > T, c.710 T > G, c.712A > G, c.712A > G, c.718A > T, c.719G > A, c.721A > T, c.722G > T in the ischemic stroke patients.”	0.98	hgnc_dict_v1
gene	LDLRAD2	“We also identified several rare, intermediate, and most common gene variants in cholesterol associated genes LDLR, LDLRAD2, LDLRAD3, APOA2, APOA3, APOA4, APOA5, and PCSK9.”	0.98	hgnc_dict_v1

PMID 30183354 | DOI 10.1089/gtmb.2018.0058 · Genetic testing and molecular biomarkers · 2018 · 18 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	LDLR	“A heterozygous pathogenic mutation in the LDLR gene associated with autosomal dominant familial hypercholesterolemia was present in one patient with deep venous thrombosis, although their cholesterol level was normal.”	0.98	hgnc_dict_v1
phenotype	stroke	“One SCD individual who had a stroke was a carrier of the pathogenic variant p.Asp36Tyr in the VKORC1 gene which is, associated with warfarin resistance.”	0.98	phenotype_alias_lexicon_v2
gene	CHD7	“One patient who had both SCD and CHARGE association was heterozygous for pathogenic mutation p.Arg987Ter in the CHD7 gene.”	0.98	hgnc_dict_v1
gene	VKORC1	“One SCD individual who had a stroke was a carrier of the pathogenic variant p.Asp36Tyr in the VKORC1 gene which is, associated with warfarin resistance.”	0.98	hgnc_dict_v1