Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5283
Gene Symbol: PIGH
PIGH
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.310 Biomarker GENOMICS_ENGLAND Scanning exomes from 7,833 parent-child trios and 1,792 singletons from the DDD study for biallelic variants in this gene-set uncovered a rare PIGH variant in a boy with epilepsy, microcephaly, and behavioral difficulties. 29573052

2018