rs797045061, PAFAH1B1

N. diseases: 1
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 Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Classical Lissencephaly
CUI: C0431375
Disease: Classical Lissencephaly
0.700 CausalMutation CLINVAR LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. 19667223 2009