DisGeNET - a database of gene-disease associations

Brachydactyly, C0221357

Gene: FGFR3 ×

Source: ALL

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

0.110

GeneticVariation

disease

BEFREE

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

1998

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

0.110

CausalMutation

disease

CLINVAR

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

0.110

Biomarker

disease

HPO