rs397514490, HINT1

N. diseases: 1
Disease: Isaacs syndrome ×
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
0.800 GeneticVariation UNIPROT Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 22961002 2012
Isaacs syndrome
CUI: C0242287
Disease: Isaacs syndrome
0.800 GeneticVariation UNIPROT The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. 16835243 2006
Isaacs syndrome
CUI: C0242287
Disease: Isaacs syndrome
0.800 CausalMutation CLINVAR