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 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 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 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 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