POMT1, protein O-mannosyltransferase 1, 10585

N. diseases: 223; N. variants: 32
Disease: Cobblestone Lissencephaly ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 23 0.410 strong 1.000 1 2012 2012