DisGeNET - a database of gene-disease associations

B3GAT3, beta-1,3-glucuronyltransferase 3, 26229

N. diseases: 75; N. variants: 5

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:

rs372487178

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.800

GeneticVariation

UNIPROT

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

26086840

2015

dbSNP:

rs372487178

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.800

GeneticVariation

UNIPROT

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

25893793

2015

dbSNP:

rs387906937

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.800

GeneticVariation

UNIPROT

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

25893793

2015

dbSNP:

rs387906937

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.800

GeneticVariation

UNIPROT

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

26086840

2015

dbSNP:

rs372487178

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.800

GeneticVariation

UNIPROT

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.

24668659

2014

dbSNP:

rs387906937

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.800

GeneticVariation

UNIPROT

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.

24668659

2014

dbSNP:

rs372487178

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.800

GeneticVariation

UNIPROT

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

21763480

2011

dbSNP:

rs387906937

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.800

GeneticVariation

UNIPROT

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

21763480

2011

dbSNP:

rs387906937

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.800

CausalMutation

CLINVAR

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

21763480

2011

dbSNP:

rs372487178

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.800

CausalMutation

CLINVAR

dbSNP:

rs12794886

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs879255269

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.700

GeneticVariation

UNIPROT

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

26086840

2015

dbSNP:

rs879255269

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.700

GeneticVariation

UNIPROT

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

25893793

2015

dbSNP:

rs879255269

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.700

GeneticVariation

UNIPROT

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.

24668659

2014

dbSNP:

rs879255269

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.700

GeneticVariation

UNIPROT

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

21763480

2011

dbSNP:

rs535206047

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C3278404
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS

0.700

CausalMutation

CLINVAR

dbSNP:

rs879255269

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C4310897
Disease:

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS

0.700

CausalMutation

CLINVAR

dbSNP:

rs372487178

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C0017601
Disease:

Glaucoma

0.010

GeneticVariation

BEFREE

We report on a patient with a novel homozygous B3GAT3 (c.667G>A, p.Gly223Ser) mutation and a history of multiple fractures, blue sclerae, and glaucoma.

26086840

2015

dbSNP:

rs387906937

Entrez Id:	26229
Gene Symbol:	B3GAT3

B3GAT3

CUI:	C1837884
Disease:

Larsen-Like Syndrome

0.010

GeneticVariation

BEFREE

Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.(Arg277Gln), we suggest mutation B3GAT3:p.(Pro140Leu) to cause a different type of GAG linkeropathy showing no involvement of the heart.

25893793

2015