Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.030 | GeneticVariation | BEFREE | The recent discovery of a point mutation leading to a change from arginine to tryptophan at residue 100 in the mature NGFβ sequence (NGF<sup>R100W</sup>) in patients with hereditary sensory and autonomic neuropathy type V (HSAN V) made it possible to distinguish the signaling mechanisms that lead to two functionally different outcomes of NGF: trophic versus nociceptive. | 29483280 | 2018 |
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0.030 | GeneticVariation | BEFREE | The recent discovery of a point mutation leading to a change from arginine to tryptophan at residue 100 in the mature NGFβ sequence (NGF<sup>R100W</sup>) in patients with hereditary sensory and autonomic neuropathy type V (HSAN V) made it possible to distinguish the signaling mechanisms that lead to two functionally different outcomes of NGF: trophic versus nociceptive. | 29483280 | 2018 |
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0.030 | GeneticVariation | BEFREE | Recently a homozygous missense mutation (R100W) in the NGF gene has been identified in HSAN V patients. | 24494679 | 2014 |
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0.030 | GeneticVariation | BEFREE | Recently a homozygous missense mutation (R100W) in the NGF gene has been identified in HSAN V patients. | 24494679 | 2014 |
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0.030 | GeneticVariation | BEFREE | Recently, a missense point mutation was found in the NGFB gene (C661T, leading to the aminoacid substitution R100W) of individuals affected by a form of hereditary loss of pain perception (hereditary sensory and autonomic neuropathy type V, HSAN V). | 19945432 | 2010 |
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0.030 | GeneticVariation | BEFREE | Recently, a missense point mutation was found in the NGFB gene (C661T, leading to the aminoacid substitution R100W) of individuals affected by a form of hereditary loss of pain perception (hereditary sensory and autonomic neuropathy type V, HSAN V). | 19945432 | 2010 |