HINT1, histidine triad nucleotide binding protein 1, 3094
N. diseases: 105; N. variants: 11
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.810 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. | 16835243 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. | 16835243 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. | 16835243 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. | 16835243 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. | 16835243 | 2006 | |||||||
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G | 0.810 | CausalMutation | CLINVAR | Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. | 22961002 | 2012 | ||||||
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0.800 | GeneticVariation | UNIPROT | Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. | 22961002 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. | 22961002 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. | 22961002 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. | 22961002 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. | 22961002 | 2012 | |||||||
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G | 0.810 | CausalMutation | CLINVAR | Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom. | 25342199 | 2015 | ||||||
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G | 0.810 | CausalMutation | CLINVAR | A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States. | 26182879 | 2015 | ||||||
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G | 0.810 | CausalMutation | CLINVAR | Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. | 27549087 | 2016 | ||||||
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CT | 0.700 | GeneticVariation | GWASCAT | Genomic atlas of the human plasma proteome. | 29875488 | 2018 |