DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Brachycephaly ×

Gene: TCF12 ×

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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:	6938
Gene Symbol:	TCF12

TCF12

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.600

GermlineCausalMutation

ORPHANET

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

23354436

2013

Entrez Id:	6938
Gene Symbol:	TCF12

TCF12

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.600

Biomarker

CTD_human

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

23354436

2013

Entrez Id:	6938
Gene Symbol:	TCF12

TCF12

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.600

Biomarker

HPO