DisGeNET - a database of gene-disease associations

FBXL3, F-box and leucine rich repeat protein 3, 26224

N. diseases: 36; N. variants: 66

Disease: Neuronal Ceroid-Lipofuscinoses ×

Variant: rs386833967 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs386833967

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C0027877
Disease:

Neuronal Ceroid-Lipofuscinoses

0.700

CausalMutation

CLINVAR

[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].

22532218

2012

dbSNP:

rs386833967

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C0027877
Disease:

Neuronal Ceroid-Lipofuscinoses

0.700

CausalMutation

CLINVAR

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

20157158

2010

dbSNP:

rs386833967

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C0027877
Disease:

Neuronal Ceroid-Lipofuscinoses

0.700

CausalMutation

CLINVAR

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.

20960652

2008