PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Cerebellar Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.120 Biomarker phenotype BEFREE Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment. 26502900 2015
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.120 CausalMutation phenotype CLINVAR
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.120 GeneticVariation phenotype CLINVAR