DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Congenital central hypoventilation ×

Results per page

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:	2668
Gene Symbol:	GDNF

GDNF

CUI:	C1275808
Disease:	Congenital central hypoventilation

Congenital central hypoventilation

0.600

GeneticVariation

UNIPROT

Mutations of the RET-GDNF signaling pathway in Ondine's curse.

1998