DisGeNET - a database of gene-disease associations

SHANK2, SH3 and multiple ankyrin repeat domains 2, 22941

N. diseases: 49; N. variants: 17

Disease: AUTISM, SUSCEPTIBILITY TO, 17 ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C3150693
Disease:	AUTISM, SUSCEPTIBILITY TO, 17

AUTISM, SUSCEPTIBILITY TO, 17

0.400

Biomarker

disease

GENOMICS_ENGLAND

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

20473310

2010

CUI:	C3150693
Disease:	AUTISM, SUSCEPTIBILITY TO, 17

AUTISM, SUSCEPTIBILITY TO, 17

0.400

CausalMutation

disease

CLINVAR