Gene: PMM2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.050 Biomarker group BEFREE AZATAX was designed to establish whether acetazolamide is safe and improves cerebellar syndrome in PMM2-CDG. 30873657 2019
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.050 Biomarker group BEFREE Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy. 29470411 2018
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.050 GeneticVariation group BEFREE Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG. 30304743 2018
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.050 Biomarker group BEFREE ICARS is a valid scale to quantify the evolution of cerebellar syndrome in PMM2-CDG patients. 28915903 2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.050 Biomarker group BEFREE The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. 26502900 2015