Disease: Classical Lissencephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729199
rs794729199
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0431375
Disease:
Classical Lissencephaly 		A 0.700 GeneticVariation CLINVAR Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia. 15007136 2004
dbSNP: rs794729199
rs794729199
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0431375
Disease:
Classical Lissencephaly 		A 0.700 GeneticVariation CLINVAR Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. 9063735 1997