DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs699, AGT

N. diseases: 134

Disease: ABLEPHARON-MACROSTOMIA SYNDROME ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

ABLEPHARON-MACROSTOMIA SYNDROME

CUI:	C1860224
Disease:	ABLEPHARON-MACROSTOMIA SYNDROME

0.010

GeneticVariation

BEFREE

ACE (I/D) was significantly associated with HR in CMS patients while the AGT M235T was significantly associated with SaO(2) and BPs/d in AMS patients.

20570668

2010