UPK3B, uroplakin 3B, 105375355

N. diseases: 82; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly
0.010 GeneticVariation disease BEFREE Mutations in the genes that encode filamin-1, Lis1 and doublecortin are responsible for X-linked lissencephaly in man, whereas mutations in the genes that encode Cdk5, its activator p35 and the reelin-signaling pathway disturb migration and architectonic development in mice. 10826984 2000