Disease: Miller Dieker syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 GeneticVariation disease BEFREE Sequence analysis revealed a striking identity (99%) of the subunit with a protein encoded by the causative gene (LIS-1) for Miller-Dieker lissencephaly, a human brain malformation manifested by a smooth cerebral surface and abnormal neuronal migration. 8028668 1994
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 Biomarker disease BEFREE However, 14-3-3 epsilon lies telomeric to LIS1 and outside the Miller-Dieker syndrome chromosome region but in a region frequently deleted in several types of cancer, and is a reasonable candidate tumor suppressor gene. 8858348 1996
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 Biomarker disease BEFREE These data thus confirm LIS1 as the gene responsible for classical lissencephaly in ILS and MDS. 9063735 1997
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 Biomarker disease BEFREE Loss of LIS-1 immunoreactivity was observed in brains with MDS, but not in brains with other malformations, such as isolated lissencephaly, holoprosencephaly, Fukuyama-type congenital muscular dystrophy, and Zellweger syndrome. 9044400 1997
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 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: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 Biomarker disease MGD Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. 9697693 1998
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 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: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 GeneticVariation disease BEFREE These findings and the phenotype of the proposita, strongly suggest that genes telomeric to LIS1 and locus D17S379 are involved in many clinical findings, including the minor facial anomalies of the Miller-Dieker syndrome. 10406660 1999
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 Biomarker disease MGD Impaired learning and motor behavior in heterozygous Pafah1b1 (Lis1) mutant mice. 10541472 1999
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 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: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 GeneticVariation disease BEFREE Reiner et al.(1995b) reported on the existence of a gene with a coding region virtually identical to LIS1, the gene responsible for Miller-Dieker lissencephaly. 10575211 1999
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 GeneticVariation disease BEFREE We have created a physical map covering approximately 3.5 Mb (6 cM)in this region, spanning the RP13 interval and extending distally to the gene MDCR (formerly, LIS1), which, when deleted, leads to the MDLS phenotype. 10828595 2000
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 GeneticVariation disease BEFREE Gene mutations associated with epilepsy are known, to date, only for two disorders: the lissencephaly 1 gene in Miller-Dieker syndrome and mutations in the UBE3A gene in Angelman syndrome. 11579431 2001
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 Biomarker disease MGD Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization. 11344260 2001
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 ChromosomalRearrangement disease ORPHANET On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3 epsilon in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS. 12621583 2003
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 GeneticVariation disease BEFREE On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3 epsilon in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS. 12621583 2003
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 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: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 Biomarker disease BEFREE This report documents a Miller-Dieker syndrome patient who tested normal when a commercially available LIS1 fluorescence in situ hybridization study probe was used but was later demonstrated to have a partial deletion of the LIS1 locus. 17437911 2007
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 Biomarker disease BEFREE For 21 patients (19%), this included molecular and/or genetic confirmation (Miller-Dieker syndrome; LIS1, DCX, FLNA, EIF2AK3, or KIAA1279 mutations; or an inborn error of metabolism). 18332248 2008
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 GeneticVariation disease BEFREE Miller-Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene (LIS1). 18384621 2008
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 Biomarker disease BEFREE PAFAH1B1/LIS1 and YWHAE, which were deleted in isolated lissencephaly (PAFAH1B1/LIS1 alone) and Miller-Dieker syndrome (both genes), were found to be duplicated in patients with developmental delay. 19287139 2008
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 GeneticVariation disease BEFREE Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome. 19136950 2009
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 GeneticVariation disease BEFREE Six different genes could be responsible for this entity (LIS1, DCX, TUBA1A, VLDLR, ARX, RELN), although co-delection of YWHAE gene with LIS1 could result in Miller-Dieker Syndrome. 19120042 2009
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 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: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.600 Biomarker disease BEFREE LIS1 gene is located in the region of chromosome 17p13.3 that is frequency deleted in MDL patients and in human liver cancer cells. 21569763 2011