HEXB, hexosaminidase subunit beta, 3074
N. diseases: 62; N. variants: 49
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity. | 27682710 | 2016 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. | 26582265 | 2016 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. | 22789865 | 2012 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. | 22848519 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. | 22789865 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients. | 23113155 | 2012 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients. | 23113155 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. | 22848519 | 2012 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. | 21567908 | 2011 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. | 21567908 | 2011 |