DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Scaphycephaly ×

Gene: IFT122 ×

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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:	55764
Gene Symbol:	IFT122

IFT122

CUI:	C0265534
Disease:	Scaphycephaly

Scaphycephaly

0.400

Biomarker

CTD_human

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

2010

Entrez Id:	55764
Gene Symbol:	IFT122

IFT122

CUI:	C0265534
Disease:	Scaphycephaly

Scaphycephaly

0.400

Biomarker

HPO