Gene: PAFAH1B1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		0.080 GeneticVariation group BEFREE LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. 19667223 2009
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		0.080 GeneticVariation group BEFREE However, about 40% of patients with this malformation pattern show no abnormality after fluorescence in situ hybridisation (FISH) analysis of the 17p13.3 region and LIS1 sequencing. 18285425 2008
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		0.080 GeneticVariation group BEFREE LIS1 mutations cause a more severe malformation in the posterior brain regions. 16724181 2006
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		0.080 GeneticVariation group BEFREE LIS1 mutations cause a more severe malformation posteriorly. 15816977 2005
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		0.080 GeneticVariation group BEFREE LIS1 mutations cause a more severe malformation posteriorly. 15921228 2005
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		0.080 GeneticVariation group BEFREE Most patients with lissencephaly secondary to LIS1 mutations have a severe malformation consisting of generalized agyria and pachygyria. 11502906 2001
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		0.080 GeneticVariation group BEFREE The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. 11115846 2000
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		0.080 GeneticVariation group BEFREE We found consistent differences in the gyral patterns, with the malformation more severe posteriorly in individuals with LIS1 mutations and more severe anteriorly in individuals with XLIS mutations. 10430413 1999