DisGeNET - a database of gene-disease associations

Congenital Dysplasia Of The Hip, C4551649

Variant: rs726252 ×

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs726252

PAPPA2

0.020

GeneticVariation

BEFREE

Our replication study indicated that the association between rs726252 and DDH in Chinese Han population was debatable.

24672801

2014

dbSNP:

rs726252

PAPPA2

0.020

GeneticVariation

BEFREE

To further evaluate this possible association, in the present study, we examined the genetic association of rs726252 in PAPPA2 gene with sporadic DDH in Han Chinese population using case-control study, including 310 patients with sporadic DDH and 487 control subjects, and found a significant association between PAPPA2 and DDH.

22037112

2012