HUGO ID Detailed Result 8574


HUGO ID 8574
Symbol PAFAH1B1
Name platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa
#Occurrence 5
#Paper 1

 


PMID Match String Actual String Score Flanking text Edited by Edit
16647138MDSMDS1.2neuro-developmental syndrome Miller_amp_#x2013 Dieker lissencephaly or Miller_amp_#x2013 Dieker syndrome (MDS) MDS 
16647138MDSMDS1.2MDS is caused by a defect in the LIS-1 gene which 
16647138LIS1LIS-11.7MDS is caused by a defect in the LIS-1 gene which has been mapped to ILS/MDS ILS MDS chromosome 
16647138MDSMDS1.2the LIS-1 gene which has been mapped to ILS/MDS ILS MDS chromosome 17p 13.3 
16647138MDSMDS1.2Seizures and severe mental retardation characterize MDS ( Hattori et al. 1994 and Walsh 1998