DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Jeune thoracic dystrophy ×

Gene: IFT172 ×

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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:	26160
Gene Symbol:	IFT172

IFT172

CUI:	C0265275
Disease:	Jeune thoracic dystrophy

Jeune thoracic dystrophy

0.500

GermlineCausalMutation

ORPHANET

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

2013