rs113994198, PAFAH1B1

N. diseases: 4
Disease: Classical Lissencephaly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Classical Lissencephaly
CUI: C0431375
Disease: Classical Lissencephaly
0.700 CausalMutation CLINVAR Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 14581661 2003
Classical Lissencephaly
CUI: C0431375
Disease: Classical Lissencephaly
0.700 CausalMutation CLINVAR LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 11502906 2001
Classical Lissencephaly
CUI: C0431375
Disease: Classical Lissencephaly
0.700 CausalMutation CLINVAR Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 10441340 1999
Classical Lissencephaly
CUI: C0431375
Disease: Classical Lissencephaly
0.700 CausalMutation CLINVAR