ANGPT1, angiopoietin 1, 284

N. diseases: 340; N. variants: 18
Disease: Angioedemas, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764987358
rs764987358
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0019243
Disease:
Angioedemas, Hereditary 		0.020 GeneticVariation BEFREE The recent discovery of associations between PLG K330E and ANGPT1 A119S and HAE of unknown genetic cause (HAE-U), has raised the possibility that genetic evaluation could be used to diagnose HAE-U in patients with unexplained angioedema or non-confirmatory laboratory testing. 31131012 2019
dbSNP: rs764987358
rs764987358
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0019243
Disease:
Angioedemas, Hereditary 		0.020 GeneticVariation BEFREE The ANGPT1 p.A119S variant was detected in all members of the index family with U-HA</span>E but not in asymptomatic family members or an additional 20 patients with familial U-HAE, 22 patients with sporadic U-HAE, and 200 control subjects. 28601681 2018