DisGeNET - a database of gene-disease associations

Gene: CEP120 ×

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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:	153241
Gene Symbol:	CEP120

CEP120

CUI:	C0265275
Disease:	Jeune thoracic dystrophy

Jeune thoracic dystrophy

0.520

GermlineCausalMutation

ORPHANET

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

2015