Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0302142
Disease: Deformity
Deformity 		0.080 GeneticVariation BEFREE LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. 19667223

2009
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0302142
Disease: Deformity
Deformity 		0.080 GeneticVariation 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
CUI: C0302142
Disease: Deformity
Deformity 		0.080 GeneticVariation BEFREE LIS1 mutations cause a more severe malformation in the posterior brain regions. 16724181

2006
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0302142
Disease: Deformity
Deformity 		0.080 GeneticVariation BEFREE LIS1 mutations cause a more severe malformation posteriorly. 15816977

2005
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0302142
Disease: Deformity
Deformity 		0.080 GeneticVariation BEFREE LIS1 mutations cause a more severe malformation posteriorly. 15921228

2005
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0302142
Disease: Deformity
Deformity 		0.080 GeneticVariation 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
CUI: C0302142
Disease: Deformity
Deformity 		0.080 GeneticVariation 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
CUI: C0302142
Disease: Deformity
Deformity 		0.080 GeneticVariation 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