DisGeNET - a database of gene-disease associations

Source: ANIMAL_MODELS

Disease: Waardenburg Syndrome Type 1 ×

Gene: PAX3 ×

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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:	5077
Gene Symbol:	PAX3

PAX3

paired box 3

0.481

0.769

0.24

CUI:	C1847800
Disease:	Waardenburg Syndrome Type 1

Waardenburg Syndrome Type 1

disease

1.000

definitive

0.987

0

1983

2019