Source: ORPHANET

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: 90121
Gene Symbol: TSR2
TSR2 		TSR2 ribosome maturation factor 0.743 0.500 0.80
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.500 strong 1.000 1 0 2014 2017
Entrez Id: 90121
Gene Symbol: TSR2
TSR2 		TSR2 ribosome maturation factor 0.743 0.500 0.80
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		disease 0.300 None 1.000 1 0 2014 2014