DisGeNET - a database of gene-disease associations

Gene: EDNRB ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1910
Gene Symbol:	EDNRB

EDNRB

CUI:	C1848519
Disease:	WAARDENBURG SYNDROME, TYPE 4A

WAARDENBURG SYNDROME, TYPE 4A

1.000

Biomarker

RGD

Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations.

2011