Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease BEFREE In conclusion, our work supports that the molecular diagnostic rate of CMT2 patients can be increased via whole exome sequencing, and our data suggest that assessment of possible HINT1 mutations should be undertaken for CMT2 patients with neuromyotonia. 31832804 2020
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease BEFREE Pathogenic variants in the HINT1 gene lead to hereditary axonopathy with neuromyotonia. 31848916 2020
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease BEFREE Based on the clinical presentation and molecular genetic analyses, ARAN-NM was diagnosed in both patients and NM_005340.6: c.112T > C; p.(Cys38Arg) and NM_005340.6: c.289G > A; p.(Val97Met) in HINT1 gene were believe to be causative for the disorder. 30006059 2019
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease BEFREE We describe novel mutations of HINT1 in three Chinese patients with ARANNM from unrelated families. 30001929 2018
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 Biomarker disease BEFREE Taken together, our results suggest that the pathophysiology of inherited axonal neuropathy with neuromyotonia can be induced by conversion of HINT1 from a homodimer to monomer, by modification of select surface residues or by a significant reduction of the enzyme's catalytic efficiency. 29787766 2018
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 Biomarker disease BEFREE Axonal neuropathy with neuromyotonia: there is a HINT. 28007994 2017
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 CausalMutation disease CLINVAR Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 27549087 2016
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease BEFREE A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue. 26760849 2016
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 CausalMutation disease CLINVAR A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States. 26182879 2015
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 CausalMutation disease 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
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease BEFREE 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
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease BEFREE Biallelic mutations in the HINT1 gene were recently identified as the cause of axonal neuropathy with neuromyotonia. 26194197 2015
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease BEFREE A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States. 26182879 2015
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease BEFREE However, in 2/12 patients a recessive mutation in histidine triad nucleotide binding protein 1 (HINT1, recently discovered as a cause of axonal neuropathy with neuromyotonia) was identified. 24105373 2014
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 Biomarker disease BEFREE Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia. 22961002 2012
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 Biomarker disease GENOMICS_ENGLAND Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia. 22961002 2012
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease UNIPROT Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia. 22961002 2012
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 CausalMutation disease CLINVAR Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia. 22961002 2012
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GermlineCausalMutation disease ORPHANET Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia. 22961002 2012
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease UNIPROT The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. 16835243 2006
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 Biomarker disease CTD_human
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 GeneticVariation disease CLINVAR
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.800 Biomarker disease GENOMICS_ENGLAND