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 |
---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. | 31438591 | 2019 |
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 |
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 |
|
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 |
|
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 |
|
0.700 | GeneticVariation | disease | UNIPROT | A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. | 26086840 | 2015 |
|
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 |
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. | 21763480 | 2011 |
|
0.700 | CausalMutation | disease | CLINVAR | Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. | 21763480 | 2011 |
|
0.700 | GeneticVariation | disease | UNIPROT | Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. | 21763480 | 2011 |
|
0.700 | Biomarker | disease | CTD_human | |||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND |