Gene: POLR2A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5430
Gene Symbol: POLR2A
POLR2A 		0.300 Biomarker phenotype 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