Disease: Classical Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Direct DNA sequencing of LIS1 and XLIS was performed in 25 children with sporadic LIS and no deletion of LIS1 by fluorescence in situ hybridization. 9817918 1998
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Mutations of PAFAH1B1 cause classical lissencephaly in humans. 28836069 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE Incorporation of deletion/duplication analysis of the LIS1 and DCX genes will be important for the molecular diagnosis of patients with ILS and SBH. 19050731 2009
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE We report three mutations in exon 11, including a frameshift which extends the LIS1 protein, leading to type 1 lissencephaly and illustrating the functional importance of the WD domains at the C terminus. 17664403 2007
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). 11754098 2002
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE Whereas both dynein pools share the dynactin complex, they have opposite preferences for binding other regulators, either the adaptor protein Bicaudal-D2 (BicD2) or the multifunctional regulator Lissencephaly-1 (Lis1). 29038173 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Classical lissencephaly has been shown to result from mutations in LIS1 (PAFAH1B1; MIM#601545), DCX (Doublecortin; MIM#300121), ARX (Aristaless-related homeobox gene; MIM#300382), RELN (Reelin; MIM#600514) and VLDLR (Very low density lipoprotein receptor; MIM#224050). 20376468 2010
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Mutations in human LIS1 gene cause classical lissencephaly (smooth brain), resulting from defects in neuronal migration. 29470990 2018
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE LIS1 is the deleted gene within this region and is thought to directly cause isolated lissencephaly sequence and contribute to Miller-Dieker syndrome. 20833799 2011
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE We compared the phenotype, especially brain imaging studies, in a series of 48 children with lissencephaly, including 12 with Miller-Dieker syndrome (MDS), which is associated with large deletions of LIS1 and other genes in the region, 24 with isolated lissencephaly sequence caused by smaller LIS1 deletions or mutations, and 12 with isolated lissencephaly sequence caused by XLIS mutations. 10430413 1999
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Mutations in PAFAH1B1 (the gene encoding LIS1) are responsible for ILS and contribute to MDS, but the genetic causes of the greater severity of MDS are unknown. 12796778 2003
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Our results suggest that the lissencephaly severity in ILS caused by LIS1 mutations may be predicted by the type and location of the mutation. 11115846 2000
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE LIS1 (PAFAH1B1) mutation can impair neuronal migration, causing lissencephaly in humans. 23483716 2013
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin. 10987567 2000
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE We hypothesized that altered expression of DISC1 and/or its molecular partners (nuclear distribution element-like [NUDEL], fasciculation and elongation protein zeta-i [FEZ1], and lissencephaly 1 [LIS1]) may underlie its pathogenic role in schizophrenia and explain its genetic association. 17117617 2006
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE In addition, genetic defects associated with these and other neurological disorders have been found in multifunctional adaptors that regulate dynein function, including the dynactin subunit p150(Glued), BICD2 (Bicaudal D2), Lis-1 (lissencephaly 1) and NDE1 (nuclear distribution protein E). 24256262 2013
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Recent evidence suggests that mutations or deletions of the LIS1 gene, within band 17p13.3, are responsible for classical lissencephaly. 10369882 1999
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE Current molecular genetic techniques combined with the identification of affected patients have enabled the detection of two of the genes responsible: LIS1 (PAFAH1B1) on chromosome 17 and DCX (doublecortin) on the X chromosome. 10859564 2000
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Miller-Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene (LIS1). 18384621 2008
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Identifying these mechanisms has shed light on typical human neuronal migration disorders such as periventricular heterotopias (disorder of migration initiation linked to filamin), type I lissencephaly (cytoskeletal abnormality linked to Lis1, a microtubule-associated protein), double cortex syndrome (cytoskeletal abnormality linked to doublecortin, a microtubule-associated protein), or lissencephaly plus cerebellar hypoplasia (reelin defect). 16538086 2006
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Haploinsufficiency of PAFAH1B1 (encoding LIS1) causes either isolated lissencephaly sequence or Miller-Dieker syndrome, depending on the size of the deletion. 20452996 2010
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE To investigate the potential role of Lis1 in CD133+ glioblastoma cells, we silenced Lis1 gene in U87 cell line obtaining shLis1-U87 cells. 28607604 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE Our analyses also suggest that additional genes distal to LIS1 may be responsible for the facial dysmorphology and other abnormalities seen in MDS but not in ILS patients, supporting our original concept MDS as a contiguous gene deletion syndrome. 9063734 1997
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 GeneticVariation disease BEFREE Our results indicate that in Japan, as elsewhere, abnormality of the LIS1 gene is a common cause of MDS/ILS. 9860301 1998
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.800 Biomarker disease BEFREE To identify other susceptibility genes for schizophrenia, we screened for DISC1-interacting molecules [NudE-like (NUDEL), Lissencephaly-1 (LIS1), 14-3-3epsilon (YWHAE), growth factor receptor bound protein 2 (GRB2) and Kinesin family 5A of Kinesen1 (KIF5A)], assessing a total of 25 tagging single-nucleotide polymorphisms (SNPs) in a Japanese population. 18658164 2008