DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Skeletal dysplasia ×

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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:	2317
Gene Symbol:	FLNB

FLNB

CUI:	C0410528
Disease:	Skeletal dysplasia

Skeletal dysplasia

0.010

GeneticVariation

BEFREE

Here, we report a subject with a novel skeletal dysplasia and co-existing 46,XY gonadal dysgenesis and biallelic mutations in FLNB.

2018