DisGeNET - a database of gene-disease associations

Source: ALL

Disease: 12p12.1 microdeletion syndrome ×

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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:	6660
Gene Symbol:	SOX5

SOX5

SRY-box transcription factor 5

0.545

0.769

1.00

CUI:	C4755260
Disease:	12p12.1 microdeletion syndrome

12p12.1 microdeletion syndrome

disease

0.300

None

1.000

0

2012

2012