Source: CLINVAR

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: 51119
Gene Symbol: SBDS
SBDS 		SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		disease 1.000 definitive 0.972 19 8 2003 2019
Entrez Id: 55253
Gene Symbol: TYW1
TYW1 		tRNA-yW synthesizing protein 1 homolog 0.890 2.0E-10
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		disease 0.100 None 0 1