DisGeNET - a database of gene-disease associations

Multiple congenital anomalies, C0000772

Variant: rs121908171 ×

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:

rs121908171

RAB23

0.700

CausalMutation

CLINVAR

Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

25168863

2014

dbSNP:

rs121908171

RAB23

0.700

CausalMutation

CLINVAR

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

21412941

2011

dbSNP:

rs121908171

RAB23

0.700

CausalMutation

CLINVAR

RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.

20358613

2010

dbSNP:

rs121908171

RAB23

0.700

CausalMutation

CLINVAR

The carpenter syndrome phenotype.

15129947

2004

dbSNP:

rs121908171

RAB23

0.700

CausalMutation

CLINVAR

Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.

3322002

1987

dbSNP:

rs121908171

RAB23

0.700

CausalMutation

CLINVAR

Carpenter syndrome: natural history and clinical spectrum.

3993675

1985