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2 records shown · first 60

PMID 37755252 | PMCID PMC10536441 | DOI 10.3390/metabo13090972 · Metabolites · 2023 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	rs2278426	“ANGPTL8 gene variants, particularly rs2278426 leading to the R59W variant in the protein, have been associated with lipid traits in various ethnicities.”	0.90	hgvs_regex_v1
gene	ANGPTL8	“Targeted Metabolomics Analysis of Individuals Carrying the ANGPTL8 R59W Variant.”	0.98	hgnc_dict_v1
variant	R59W	“Targeted Metabolomics Analysis of Individuals Carrying the ANGPTL8 R59W Variant.”	0.82	literature_variant_regex_v2

PMID 32317770 | PMCID PMC7174409 | DOI 10.1038/s41598-020-63850-7 · Scientific reports · 2020 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	rs2278426	“The genotype and allele frequency distribution of rs737337 (T/C) and rs2278426 (C/T) polymorphism in ANGPTL8 gene was studied.”	0.90	hgvs_regex_v1
gene	ANGPTL8	“Association of ANGPTL8 (Betatrophin) Gene Variants with Components of Metabolic Syndrome in Arab Adults.”	0.98	hgnc_dict_v1
phenotype	metabolic syndrome	“Association of ANGPTL8 (Betatrophin) Gene Variants with Components of Metabolic Syndrome in Arab Adults.”	0.98	phenotype_alias_lexicon_v2
phenotype	diabetes mellitus	“Angiopoietin-like protein 8 (ANGPTL8) has a role in lipid metabolism, beta-cell proliferation and diabetes progression, however, the association between different variants in the ANGPTL8 gene and metabolic syndrome (MetS) components has not been studied widely especially in Arab ethnic groups.”	0.93	phenotype_alias_lexicon_v2