DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: JACKSON-WEISS SYNDROME ×

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:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0795998
Disease:	JACKSON-WEISS SYNDROME

JACKSON-WEISS SYNDROME

0.710

GeneticVariation

UNIPROT

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

2000