DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: JACKSON-WEISS SYNDROME ×

Gene: FGFR1 ×

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

Biomarker

GENOMICS_ENGLAND

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.

25759380

2015

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0795998
Disease:	JACKSON-WEISS SYNDROME

JACKSON-WEISS SYNDROME

0.710

Biomarker

GENOMICS_ENGLAND

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

12627230

2003

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.

10861678

2000

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0795998
Disease:	JACKSON-WEISS SYNDROME

JACKSON-WEISS SYNDROME

0.710

Biomarker

CTD_human