rs149782619, HINT1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Isaacs syndrome
CUI: C0242287
Disease: Isaacs syndrome
0.810 GeneticVariation BEFREE The most common cause of neuromyotonia and axonopathy, especially in patients of Slavic origin, is a c.110G>C (p.Arg37Pro) pathogenic variant in homozygous or compound heterozygous state. 31848916 2020
Isaacs syndrome
CUI: C0242287
Disease: Isaacs syndrome
0.810 CausalMutation CLINVAR Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 27549087 2016
Isaacs syndrome
CUI: C0242287
Disease: Isaacs syndrome
0.810 CausalMutation CLINVAR A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States. 26182879 2015
Isaacs syndrome
CUI: C0242287
Disease: Isaacs syndrome
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
Isaacs syndrome
CUI: C0242287
Disease: Isaacs syndrome
0.810 CausalMutation CLINVAR Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 22961002 2012
Isaacs syndrome
CUI: C0242287
Disease: Isaacs syndrome
0.810 GeneticVariation UNIPROT