rs267606956, PNKP

N. diseases: 2
Disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
CUI: C3150667
Disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
0.800 GeneticVariation UNIPROT Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. 27232581 2016
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
CUI: C3150667
Disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
0.800 GeneticVariation UNIPROT Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
CUI: C3150667
Disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
0.800 CausalMutation CLINVAR