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: 6223
Gene Symbol: RPS19
RPS19
ribosomal protein S19 0.527 0.793 0.82
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.700 0.955 0 0 1992 2017
Entrez Id: 6218
Gene Symbol: RPS17
RPS17
ribosomal protein S17 0.743 0.276 0.33
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.580 1.000 0 0 2007 2012
Entrez Id: 6204
Gene Symbol: RPS10
RPS10
ribosomal protein S10 0.727 0.414 0.94
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.530 definitive 1.000 0 0 2010 2015
Entrez Id: 6229
Gene Symbol: RPS24
RPS24
ribosomal protein S24 0.752 0.310 0.69
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.490 1.000 0 0 2007 2017
Entrez Id: 6125
Gene Symbol: RPL5
RPL5
ribosomal protein L5 0.663 0.586 0.99
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.460 1.000 0 0 2009 2017
Entrez Id: 6135
Gene Symbol: RPL11
RPL11
ribosomal protein L11 0.633 0.517 0.94
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.400 1.000 0 0 2009 2018
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.510 0.690 0.95
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.370 1.000 0 0 2012 2015
Entrez Id: 6165
Gene Symbol: RPL35A
RPL35A
ribosomal protein L35a 0.713 0.345 0.91
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.360 0.833 0 0 2008 2012
Entrez Id: 6201
Gene Symbol: RPS7
RPS7
ribosomal protein S7 0.720 0.379 0.96
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.350 1.000 0 0 2009 2013
Entrez Id: 6231
Gene Symbol: RPS26
RPS26
ribosomal protein S26 0.727 0.448 0.83
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.330 0.667 0 0 2010 2014
Entrez Id: 6154
Gene Symbol: RPL26
RPL26
ribosomal protein L26 0.690 0.414 0.92
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.310 1.000 0 0 2012 2012
Entrez Id: 6138
Gene Symbol: RPL15
RPL15
ribosomal protein L15 0.727 0.379 0.97
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.310 1.000 0 0 2013 2013
Entrez Id: 6155
Gene Symbol: RPL27
RPL27
ribosomal protein L27 0.762 0.310 0.86
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.310 1.000 0 0 2015 2015
Entrez Id: 6232
Gene Symbol: RPS27
RPS27
ribosomal protein S27 0.652 0.552 0.77
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.310 1.000 0 0 2015 2015
Entrez Id: 6235
Gene Symbol: RPS29
RPS29
ribosomal protein S29 0.743 0.345 0.31
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.310 1.000 0 0 2014 2014
Entrez Id: 6141
Gene Symbol: RPL18
RPL18
ribosomal protein L18 0.752 0.345 0.96
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.300 0 0
Entrez Id: 6234
Gene Symbol: RPS28
RPS28
ribosomal protein S28 0.713 0.345 0.69
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.300 0 0
Entrez Id: 11224
Gene Symbol: RPL35
RPL35
ribosomal protein L35 0.815 0.276 0.56
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.300 0 0
Entrez Id: 90121
Gene Symbol: TSR2
TSR2
TSR2, ribosome maturation factor 0.743 0.345 0.81
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease 0.300 0 0