PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Peripheral Nervous System Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.120 Biomarker group BEFREE We demonstrate that epalrestat is the first small molecule activator of PMM2 enzyme activity with the potential to treat peripheral neuropathy and correct the underlying enzyme deficiency in a majority of pediatric and adult PMM2-CDG patients. 31636082 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.120 GeneticVariation group BEFREE The neurological symptoms of PMM2-CDG are intellectual disability (ID), cerebellar ataxia, and peripheral neuropathy. 31727010 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.120 Biomarker group HPO