DisGeNET - a database of gene-disease associations

COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE, C4011974

Source: ALL

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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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	6297
Gene Symbol:	SALL2

SALL2

Q9Y467

spalt like transcription factor 2

Transcription factor

42

0.674

0.423

1.4E-04

0.400

moderate

1.000

1

1

2014

2014