Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 284098
Gene Symbol: PIGW
PIGW
0.010 GeneticVariation phenotype BEFREE An infant was homozygous for variants in PIGW (c.199C>G; p.Pro67Ala) with an associated phenotype of infantile spasms, myoclonic seizures, cortical visual impairment, developmental delay, and minor dysmorphic features. 30078644 2018