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: 54345
Gene Symbol: SOX18
SOX18 		SRY-box transcription factor 18 0.578 0.692 0.15
CUI: C1843004
Disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME 		disease 0.760 None 1.000 1 0 2003 2018