DisGeNET - a database of gene-disease associations

Gene: CFTR ×

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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:	1080
Gene Symbol:	CFTR

CFTR

CUI:	C0403814
Disease:	Congenital bilateral aplasia of vas deferens

Congenital bilateral aplasia of vas deferens

1.000

Biomarker

RGD

Characterization of defects in ion transport and tissue development in cystic fibrosis transmembrane conductance regulator (CFTR)-knockout rats.

2014