KIAA0319, KIAA0319, 9856

N. diseases: 24; N. variants: 10
Disease: Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.010 GeneticVariation disease BEFREE Since microtubule (MT) and actin-associated proteins play important functions in regulating the dynamics of MT and actin cytoskeletons during neuronal migration, genetic mutations or deletions of crucial genes involved in cytoskeletal processes lead to lissencephaly in human and neuronal migration defects in mouse. 23495356 2014