Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
0.020 GeneticVariation disease BEFREE Lissencephaly caused by LIS1 or DCX mutation frequently results in West syndrome, while lissencephaly due to ARX mutation is associated with the most severe form of epilepsy but never results in West syndrome nor infantile spasms. 16806828 2006
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
0.020 GeneticVariation disease BEFREE However, Lis1 and Dex mutations that appear to affect the cytoskeleton and perhaps intracellular protein trafficking are frequently associated with infantile spasms and epilepsy. 12040900 2002