Disease: Classical Lissencephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434488
rs121434488
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0431375
Disease:
Classical Lissencephaly 		0.700 GeneticVariation UNIPROT Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 14581661 2003
dbSNP: rs121434488
rs121434488
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0431375
Disease:
Classical Lissencephaly 		0.700 GeneticVariation UNIPROT Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 10441340 1999