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: 6235
Gene Symbol: RPS29
RPS29
ribosomal protein S29 0.729 0.423 0.29
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.510 strong 0.500 1 0 2014 2017
Entrez Id: 6235
Gene Symbol: RPS29
RPS29
ribosomal protein S29 0.729 0.423 0.29
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease 0.300 None 1.000 1 0 2014 2014