DisGeNET - a database of gene-disease associations

AGBL5, ATP/GTP binding protein like 5, 60509

N. diseases: 35; N. variants: 3

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:

rs879253768

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.800

GeneticVariation

UNIPROT

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

27842159

2016

dbSNP:

rs879253768

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.800

GeneticVariation

UNIPROT

Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.

27764769

2016

dbSNP:

rs879253768

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.800

GeneticVariation

UNIPROT

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

26355662

2016

dbSNP:

rs879253769

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.800

GeneticVariation

UNIPROT

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

27842159

2016

dbSNP:

rs879253769

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.800

GeneticVariation

UNIPROT

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

26355662

2016

dbSNP:

rs879253769

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.800

GeneticVariation

UNIPROT

Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.

27764769

2016

dbSNP:

rs879253768

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.800

GeneticVariation

UNIPROT

Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.

26720455

2015

dbSNP:

rs879253769

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.800

GeneticVariation

UNIPROT

Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.

26720455

2015

dbSNP:

rs879253768

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.800

CausalMutation

CLINVAR

dbSNP:

rs879253769

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.800

CausalMutation

CLINVAR

dbSNP:

rs780394281

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.700

GeneticVariation

UNIPROT

Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.

27764769

2016

dbSNP:

rs780394281

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.700

GeneticVariation

UNIPROT

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

27842159

2016

dbSNP:

rs780394281

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.700

GeneticVariation

UNIPROT

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

26355662

2016

dbSNP:

rs780394281

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C4310759
Disease:

RETINITIS PIGMENTOSA 75

0.700

GeneticVariation

UNIPROT

Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.

26720455

2015

dbSNP:

rs879253768

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C0035334
Disease:

Retinitis Pigmentosa

0.010

GeneticVariation

BEFREE

In one family, exome analyses of two affected individuals revealed a homozygous missense mutation (c.883G>A; p.Asp295Asn) in the AGBL5 (Agbl5; CCP5) gene, previously not reported to be associated with RP.

26720455

2015