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: 6141
Gene Symbol: RPL18
RPL18 		ribosomal protein L18 0.743 0.385 0.97
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.500 moderate 1.000 1 0 2017 2017
Entrez Id: 6141
Gene Symbol: RPL18
RPL18 		ribosomal protein L18 0.743 0.385 0.97
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		disease 0.300 None 1.000 1 0 2017 2017