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 		0.120 Biomarker phenotype BEFREE We explore the hypothesis of abnormal Ca<sub>V</sub>2.1 function due to aberrant <i>N</i>-glycosylation as a potential novel pathomechanism of SLE and ataxia in PMM2-CDG by using whole-cell patch-clamp, <i>N</i>-glycosylation blockade and mutagenesis.Nine SLE were identified.Neuroimages showed no signs of stroke. 29470411 2018
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 Biomarker phenotype BEFREE Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment. 26502900 2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation phenotype CLINVAR
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 GeneticVariation phenotype CLINVAR