PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Cerebellar Hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.110 Biomarker disease BEFREE In contrast to PMM2-CDG (CDGIa), there is no cerebellar hypoplasia. 20398363 2010
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.110 Biomarker disease HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.110 GeneticVariation disease CLINVAR
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.110 CausalMutation disease CLINVAR