DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: 22q13.3 Deletion Syndrome ×

Gene: SHANK3 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1853490
Disease:	22q13.3 Deletion Syndrome

22q13.3 Deletion Syndrome

1.000

Biomarker

GENOMICS_ENGLAND

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

17173049

2007

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

CUI:	C1853490
Disease:	22q13.3 Deletion Syndrome

22q13.3 Deletion Syndrome

1.000

Biomarker

GENOMICS_ENGLAND