DisGeNET - a database of gene-disease associations

FSCN2, fascin actin-bundling protein 2, retinal, 25794

N. diseases: 42; N. variants: 17

Disease: RETINITIS PIGMENTOSA 30 ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1842816
Disease:	RETINITIS PIGMENTOSA 30

RETINITIS PIGMENTOSA 30

0.700

Biomarker

disease

MGD

Targeted disruption of FSCN2 gene induces retinopathy in mice.

16043865

2005

CUI:	C1842816
Disease:	RETINITIS PIGMENTOSA 30

RETINITIS PIGMENTOSA 30

0.700

Biomarker

disease

CTD_human

CUI:	C1842816
Disease:	RETINITIS PIGMENTOSA 30

RETINITIS PIGMENTOSA 30

0.700

Biomarker

disease

GENOMICS_ENGLAND