DisGeNET - a database of gene-disease associations

Anemia, Hemolytic, Congenital, C0002881

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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:	6899
Gene Symbol:	TBX1

TBX1

O43435

T-box transcription factor 1

Transcription factor

417

0.433

0.808

0.84

0.010

None

1.000

1

0

2019

2019

Entrez Id:	106480993
Gene Symbol:	RN7SL263P

RN7SL263P

RNA, 7SL, cytoplasmic 263, pseudogene

189

0.496

0.808

0.010

None

1.000

1

0

2019

2019