Disease: Classical Lissencephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994198
rs113994198
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0431375
Disease:
Classical Lissencephaly 		G 0.700 CausalMutation CLINVAR Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 14581661 2003
dbSNP: rs113994198
rs113994198
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0431375
Disease:
Classical Lissencephaly 		G 0.700 CausalMutation CLINVAR LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 11502906 2001
dbSNP: rs113994198
rs113994198
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0431375
Disease:
Classical Lissencephaly 		G 0.700 CausalMutation CLINVAR Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 10441340 1999
dbSNP: rs113994198
rs113994198
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0431375
Disease:
Classical Lissencephaly 		GA 0.700 CausalMutation CLINVAR