DisGeNET - a database of gene-disease associations

Source: CTD_human

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

CTD_human

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.

2006