Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5430
Gene Symbol: POLR2A
POLR2A 		RNA polymerase II subunit A 0.650 0.423 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.300 strong 1.000 1 0 2019 2019