DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Antley-Bixler Syndrome, Autosomal Dominant ×

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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:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C2936791
Disease:	Antley-Bixler Syndrome, Autosomal Dominant

Antley-Bixler Syndrome, Autosomal Dominant

0.740

GeneticVariation

UNIPROT

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

2000