DisGeNET - a database of gene-disease associations

Multiple congenital anomalies, C0000772

Variant: rs797044870 ×

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:

rs797044870

CDC42

0.700

CausalMutation

CLINVAR

Rho GTPases in cell biology.

12478284

2002

dbSNP:

rs797044870

CDC42

0.700

CausalMutation

CLINVAR

Rho GTPases, dendritic structure, and mental retardation.

15884002

2005

dbSNP:

rs797044870

CDC42

0.700

CausalMutation

CLINVAR

Structural basis of the Rho GTPase signaling.

14561717

2003

dbSNP:

rs797044870

CDC42

0.700

CausalMutation

CLINVAR

The evolutionary history of effectors downstream of Cdc42 and Rac.

11864373

2002

dbSNP:

rs797044870

CDC42

0.700

CausalMutation

CLINVAR

The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.

12195014

2002