DisGeNET - a database of gene-disease associations

POMGNT1, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), 55624

N. diseases: 188; N. variants: 87

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:

rs200863680

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C4310704
Disease:

RETINITIS PIGMENTOSA 76

0.800

GeneticVariation

UNIPROT

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

26908613

2016

dbSNP:

rs200863680

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C4310704
Disease:

RETINITIS PIGMENTOSA 76

0.800

GeneticVariation

UNIPROT

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

27391550

2016

dbSNP:

rs886037947

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C4310704
Disease:

RETINITIS PIGMENTOSA 76

0.800

GeneticVariation

UNIPROT

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

27391550

2016

dbSNP:

rs886037947

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C4310704
Disease:

RETINITIS PIGMENTOSA 76

0.800

GeneticVariation

UNIPROT

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

26908613

2016

dbSNP:

rs886037948

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C4310704
Disease:

RETINITIS PIGMENTOSA 76

0.800

GeneticVariation

UNIPROT

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

26908613

2016

dbSNP:

rs886037948

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C4310704
Disease:

RETINITIS PIGMENTOSA 76

0.800

GeneticVariation

UNIPROT

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

27391550

2016

dbSNP:

rs886037949

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C4310704
Disease:

RETINITIS PIGMENTOSA 76

0.800

GeneticVariation

UNIPROT

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

27391550

2016

dbSNP:

rs886037949

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C4310704
Disease:

RETINITIS PIGMENTOSA 76

0.800

GeneticVariation

UNIPROT

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

26908613

2016

dbSNP:

rs267606960

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

CausalMutation

CLINVAR

Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.

24282183

2014

dbSNP:

rs267606962

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

GeneticVariation

CLINVAR

Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

24731844

2014

dbSNP:

rs267606962

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

GeneticVariation

CLINVAR

Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.

23689641

2013

dbSNP:

rs267606960

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

CausalMutation

CLINVAR

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

22323514

2012

dbSNP:

rs267606962

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

GeneticVariation

CLINVAR

Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.

21361872

2011

dbSNP:

rs193919336

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3151519
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3

0.800

GeneticVariation

UNIPROT

Consensus statement on standard of care for congenital muscular dystrophies.

21078917

2010

dbSNP:

rs267606960

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

GeneticVariation

UNIPROT

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

19299310

2009

dbSNP:

rs267606962

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

GeneticVariation

CLINVAR

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

19299310

2009

dbSNP:

rs267606962

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

GeneticVariation

UNIPROT

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

19299310

2009

dbSNP:

rs267606962

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

GeneticVariation

CLINVAR

An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.

19679478

2009

dbSNP:

rs193919335

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3151519
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3

0.800

GeneticVariation

UNIPROT

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

19067344

2008

dbSNP:

rs193919336

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3151519
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3

0.800

GeneticVariation

UNIPROT

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

19067344

2008

dbSNP:

rs267606960

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

GeneticVariation

UNIPROT

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

19067344

2008

dbSNP:

rs267606962

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

GeneticVariation

UNIPROT

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

19067344

2008

dbSNP:

rs28940869

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3151519
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3

0.800

GeneticVariation

UNIPROT

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

19067344

2008

dbSNP:

rs28942068

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3151519
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3

0.800

GeneticVariation

UNIPROT

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

19067344

2008

dbSNP:

rs267606960

Entrez Id:	10103;55624
Gene Symbol:	TSPAN1;POMGNT1

TSPAN1;POMGNT1

CUI:	C3150412
Disease:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.800

CausalMutation

CLINVAR

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

17878207

2007