POMT1, protein O-mannosyltransferase 1, 10585

N. diseases: 223; N. variants: 32
Disease: Cobblestone Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		0.410 GeneticVariation disease BEFREE The most severe, which we called cobblestone lissencephaly A, was linked to mutations in POMT1 (34%), POMT2 (8%) and FKRP (1.5%). 22323514 2012
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		0.410 Biomarker disease GENOMICS_ENGLAND
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		0.410 Biomarker disease HPO