DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Costello syndrome (disorder) ×

Gene: SHOC2 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	8036
Gene Symbol:	SHOC2

SHOC2

SHOC2 leucine rich repeat scaffold protein

0.593

0.769

1.00

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

disease

0.310

disputed

1.000

0

2010

2011