Disease: Inherited neuropathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.030 Biomarker disease BEFREE As a recent player in the field of hereditary neuropathies, the role of HINT1 in peripheral nerves is unknown and the underlying disease mechanisms are unexplored. 28007994 2017
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.030 GeneticVariation disease BEFREE In our study, we aimed to determine the frequency of HINT1 mutations by direct sequencing in a cohort of 152 patients with inherited neuropathies from the UK and Spain, where no cases have been described to date. 26194197 2015
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.030 GeneticVariation disease BEFREE Overall, mutations in the HINT1 gene seem to be a surprisingly frequent cause of inherited neuropathy in our group of patients. 25342199 2015