DisGeNET - a database of gene-disease associations

Gene: IFT80 ×

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:	57560
Gene Symbol:	IFT80

IFT80

CUI:	C0265275
Disease:	Jeune thoracic dystrophy

Jeune thoracic dystrophy

0.610

GermlineCausalMutation

ORPHANET

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

2007