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:	C0345240
Disease:	Total intestinal aganglionosis

Total intestinal aganglionosis

0.300

Biomarker

RGD

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

2011