| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.840 | GeneticVariation | UNIPROT | Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. | 22461411 | 2012 |
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|
0.840 | GeneticVariation | BEFREE | Classical galactosemia is frequently associated with S135L, Q188R and K285N mutations in the GALT gene. | 22963887 | 2012 |
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|
0.840 | GeneticVariation | UNIPROT | Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications. | 23022339 | 2012 |
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|
0.840 | GeneticVariation | UNIPROT | Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. | 22475884 | 2012 |
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|
T | 0.840 | CausalMutation | CLINVAR | Functional and structural impact of the most prevalent missense mutations in classic galactosemia. | 25614870 | 2014 |
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|
0.840 | GeneticVariation | UNIPROT | Functional and structural impact of the most prevalent missense mutations in classic galactosemia. | 25614870 | 2014 |
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|
0.840 | GeneticVariation | UNIPROT | Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. | 25592817 | 2015 |
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|
T | 0.840 | CausalMutation | CLINVAR | Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. | 25592817 | 2015 |
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|
0.840 | GeneticVariation | UNIPROT | Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase. | 27005423 | 2016 |