DisGeNET - a database of gene-disease associations

Gene: TCOF1 ×

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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:	6949
Gene Symbol:	TCOF1

TCOF1

CUI:	C0152423
Disease:	Congenital small ears

Congenital small ears

0.400

Biomarker

GENOMICS_ENGLAND

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.

1998