DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Multiple congenital anomalies ×

Variant: rs1553327954 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1553327954

SOX11

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

26543203

2016

dbSNP:

rs1553327954

SOX11

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

De novo SOX11 mutations cause Coffin-Siris syndrome.

24886874

2014

dbSNP:

rs1553327954

SOX11

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Gene targeting reveals a widespread role for the high-mobility-group transcription factor Sox11 in tissue remodeling.

15254231

2004