DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Trigonocephaly ×

Results per page

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:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C0265535
Disease:	Trigonocephaly

Trigonocephaly

0.700

GermlineCausalMutation

ORPHANET

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

2011

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C0265535
Disease:	Trigonocephaly

Trigonocephaly

0.700

Biomarker

HPO

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C0265535
Disease:	Trigonocephaly

Trigonocephaly

0.700

Biomarker

CTD_human

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C0265535
Disease:	Trigonocephaly

Trigonocephaly

0.700

Biomarker

GENOMICS_ENGLAND