Disease: Peripheral motor neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.040 GeneticVariation disease BEFREE Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy. 30001929 2018
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.040 GeneticVariation disease BEFREE We aimed to establish the importance of HINT1 mutations as the cause of hereditary neuropathy and particularly hereditary motor neuropathy/axonal Charcot-Marie-Tooth (HMN/CMT2) among Czech patients. 25342199 2015
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.040 GeneticVariation disease BEFREE A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States. 26182879 2015
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.040 GeneticVariation disease BEFREE Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. 24105373 2014