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: 55253
Gene Symbol: TYW1
TYW1 		tRNA-yW synthesizing protein 1 homolog 0.890 2.0E-10
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		phenotype 0.100 None 0 1
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
Entrez Id: 55253
Gene Symbol: TYW1
TYW1 		tRNA-yW synthesizing protein 1 homolog 0.890 2.0E-10
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 55253
Gene Symbol: TYW1
TYW1 		tRNA-yW synthesizing protein 1 homolog 0.890 2.0E-10
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease 0.100 None 0 1
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