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: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		disease 0.600 None 1.000 10 5 2003 2015
Entrez Id: 6729
Gene Symbol: SRP54
SRP54 		signal recognition particle 54 0.612 0.769 1.00
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		disease 0.100 None 1.000 1 3 2017 2017
Entrez Id: 55253
Gene Symbol: TYW1
TYW1 		tRNA-yW synthesizing protein 1 homolog 0.890 2.0E-10
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		disease 0.100 None 0 1