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: 6602
Gene Symbol: SMARCD1
SMARCD1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 0.695 0.385 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 strong 1.000 1 0 2019 2019