ANGPTL2, angiopoietin like 2, 23452

N. diseases: 125; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11795066
rs11795066
Entrez Id: 9649;23452
Gene Symbol: RALGPS1;ANGPTL2
RALGPS1;ANGPTL2
CUI: C0040420
Disease:
Tonometry 		G 0.700 GeneticVariation GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
dbSNP: rs11795066
rs11795066
Entrez Id: 9649;23452
Gene Symbol: RALGPS1;ANGPTL2
RALGPS1;ANGPTL2
CUI: C0040420
Disease:
Tonometry 		0.700 GeneticVariation GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018
dbSNP: rs572057906
rs572057906
Entrez Id: 9649;23452
Gene Symbol: RALGPS1;ANGPTL2
RALGPS1;ANGPTL2
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.010 GeneticVariation BEFREE Here we describe a new disease, X-linked severe congenital neutropenia (XLN), caused by a novel L270P mutation in the region of WAS encoding the conserved GTPase binding domain (GBD). 11242115 2001
dbSNP: rs572057906
rs572057906
Entrez Id: 9649;23452
Gene Symbol: RALGPS1;ANGPTL2
RALGPS1;ANGPTL2
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		0.010 GeneticVariation BEFREE Here we describe a new disease, X-linked severe congenital neutropenia (XLN), caused by a novel L270P mutation in the region of WAS encoding the conserved GTPase binding domain (GBD). 11242115 2001