DisGeNET - a database of gene-disease associations

rs2228671, LDLR

N. diseases: 14

Disease: Pyloric Stenosis, Hypertrophic ×

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

Pyloric Stenosis, Hypertrophic

CUI:	C0700639
Disease:	Pyloric Stenosis, Hypertrophic

0.700

GeneticVariation

GWASDB

Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.

2012