Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51317
Gene Symbol: PHF21A
PHF21A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker GENOMICS_ENGLAND This study shows that PHF21A haploinsufficiency results in intellectual disability and craniofacial anomalies and possibly contributes to susceptibility to autism spectrum disorder, epilepsy, and overgrowth, all of which are PSS features. 30487643

2019