DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Transposition of Great Vessels ×

Gene: TBX1 ×

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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:	6899
Gene Symbol:	TBX1

TBX1

T-box transcription factor 1

0.433

0.808

0.84

CUI:	C0040761
Disease:	Transposition of Great Vessels

Transposition of Great Vessels

disease

0.200

None

1.000

0

1991

2018