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

Differential localization of Rho GTPases in live cells: regulation by hypervariable regions and RhoGDI binding.

11149925

2001

dbSNP:

rs797044870

CDC42

0.700

CausalMutation

CLINVAR

Function of Rho family proteins in actin dynamics during phagocytosis and engulfment.

11025683

2000

dbSNP:

rs797044870

CDC42

0.700

CausalMutation

CLINVAR

Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability.

10898977

2000

dbSNP:

rs797044870

CDC42

0.700

CausalMutation

CLINVAR

Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

7473653

1995

dbSNP:

rs797044870

CDC42

0.700

CausalMutation

CLINVAR

Clinical and molecular analyses of deletion 3p25-pter syndrome.

8103286

1993