Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5430
Gene Symbol: POLR2A
POLR2A
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 Biomarker GENOMICS_ENGLAND We conclude that subtle variants that are central in functionally important domains of POLR2A cause a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay through a dominant-negative effect on pol-II-mediated transcription of DNA. 31353023

2019