MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
|
31438591 |
2019 |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
|
26086840 |
2015 |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
|
25893793 |
2015 |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
|
26086840 |
2015 |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
GeneticVariation
|
disease |
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 |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
|
21763480 |
2011 |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
|
21763480 |
2011 |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
|
21763480 |
2011 |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Osteopenia
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
|
27871226 |
2016 |
Mitral Valve Prolapse Syndrome
|
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 |
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 |
Mitral Valve Prolapse Syndrome
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Osteopenia
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Bicuspid aortic valve
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
Amblyopia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cleft Palate
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital clubfoot
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cutis Laxa
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|