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

N. diseases: 75; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		0.100 Biomarker disease HPO
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		0.100 Biomarker phenotype HPO
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 Biomarker disease BEFREE In conclusion, overexpressed B3GAT3 promotes the process of tumor EMT, which is an independent prognostic marker to predict the prognosis of liver cancer and might be a potential new target for liver cancer therapy. 30847403 2019
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		0.100 Biomarker phenotype HPO
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 Biomarker phenotype HPO
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		0.100 Biomarker disease HPO
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.110 Biomarker disease HPO
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.110 AlteredExpression disease BEFREE The study shows that reduced GlcAT-I activity impairs skeletal as well as heart development and results in variable combinations of heart malformations, including mitral valve prolapse, ventricular septal defect, and bicuspid aortic valve. 21763480 2011
CUI: C3278429
Disease: Bilateral elbow dislocations
Bilateral elbow dislocations 		0.100 Biomarker phenotype HPO
CUI: C0267672
Disease: Bilateral inguinal hernia
Bilateral inguinal hernia 		0.010 GeneticVariation disease BEFREE He has bilateral inguinal hernias and atlanto-axial as well as atlanto-occipital instability that have not been previously associated with B3GAT3 mutations. 24668659 2014
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C4024174
Disease: Broad distal phalanges of all fingers
Broad distal phalanges of all fingers 		0.100 Biomarker disease HPO
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.100 Biomarker phenotype HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE This patient has short stature, facial dysmorphisms, skeletal findings, joint laxity, and cardiac manifestations similar to those previously associated with B3GAT3 mutations. 24668659 2014
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 AlteredExpression group BEFREE The study shows that reduced GlcAT-I activity impairs skeletal as well as heart development and results in variable combinations of heart malformations, including mitral valve prolapse, ventricular septal defect, and bicuspid aortic valve. 21763480 2011
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.010 GeneticVariation disease BEFREE 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
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.100 Biomarker disease HPO
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		0.010 GeneticVariation disease BEFREE Loss-of-function mutations in B3GAT3 are associated with a complex connective tissue phenotype characterized by disproportionate short stature, skeletal dysplasia, facial dysmorphism, spatulate distal phalanges and -to a lesser extent- joint contractures, joint hypermobility with dislocations, cardiac defects and bone fragility. 31196143 2019
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human A zebrafish screen for craniofacial mutants identifies wdr68 as a highly conserved gene required for endothelin-1 expression. 16759393 2006
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 GeneticVariation disease BEFREE All died before 1 year of age.ConclusionWe identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. 28771243 2018
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.100 Biomarker disease HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO