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

N. diseases: 75; N. variants: 5
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906937
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
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: rs387906937
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: rs387906937
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
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 		T 0.800 CausalMutation CLINVAR Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. 21763480 2011