DisGeNET - a database of gene-disease associations

Dysmorphic features, C0432072

Variant: rs606231193 ×

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:

rs606231193

PQBP1

0.700

CausalMutation

CLINVAR

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.

20950397

2011

dbSNP:

rs606231193

PQBP1

0.700

CausalMutation

CLINVAR

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.

16740914

2006

dbSNP:

rs606231193

PQBP1

0.700

CausalMutation

CLINVAR

Renpenning syndrome comes into focus.

15782410

2005

dbSNP:

rs606231193

PQBP1

0.700

CausalMutation

CLINVAR

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).

15355434

2004

dbSNP:

rs606231193

PQBP1

0.700

CausalMutation

CLINVAR

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

14634649

2003

dbSNP:

rs606231193

PQBP1

0.700

CausalMutation

CLINVAR

Familial sex-linked mental retardation.

13981686

1962