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 De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. 31353023 2019