DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Lobar Holoprosencephaly ×

Gene: FGFR1 ×

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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:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0431362
Disease:	Lobar Holoprosencephaly

Lobar Holoprosencephaly

0.400

GeneticVariation

ORPHANET

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

2016