Source: GENOMICS_ENGLAND

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: 2623
Gene Symbol: GATA1
GATA1 		GATA binding protein 1 0.483 0.808 0.95
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.700 strong 1.000 4 0 1996 2019
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.700 strong 0.975 3 0 1992 2020
Entrez Id: 6229
Gene Symbol: RPS24
RPS24 		ribosomal protein S24 0.695 0.423 0.68
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.690 definitive 1.000 5 0 2006 2017
Entrez Id: 6218
Gene Symbol: RPS17
RPS17 		ribosomal protein S17 0.751 0.462 0.33
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.680 strong 1.000 1 0 2007 2017
Entrez Id: 51816
Gene Symbol: ADA2
ADA2 		adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.610 strong 0.667 2 0 2014 2020
Entrez Id: 6155
Gene Symbol: RPL27
RPL27 		ribosomal protein L27 0.769 0.385 0.85
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.510 None 1.000 2 0 2015 2017
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 2 0 2014 2017
Entrez Id: 6232
Gene Symbol: RPS27
RPS27 		ribosomal protein S27 0.578 0.769 0.76
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.510 None 1.000 2 0 2015 2017
Entrez Id: 6138
Gene Symbol: RPL15
RPL15 		ribosomal protein L15 0.686 0.615 0.97
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.510 strong 1.000 1 0 2013 2017
Entrez Id: 6154
Gene Symbol: RPL26
RPL26 		ribosomal protein L26 0.695 0.423 0.92
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.510 strong 1.000 1 0 2012 2017
Entrez Id: 6135
Gene Symbol: RPL11
RPL11 		ribosomal protein L11 0.650 0.577 0.96
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.500 strong 1.000 4 0 2008 2019
Entrez Id: 6125
Gene Symbol: RPL5
RPL5 		ribosomal protein L5 0.617 0.615 1.00
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.500 strong 1.000 3 0 2008 2019
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: 6234
Gene Symbol: RPS28
RPS28 		ribosomal protein S28 0.716 0.423 0.68
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: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.500 strong 1.000 1 0 2014 2017
Entrez Id: 11224
Gene Symbol: RPL35
RPL35 		ribosomal protein L35 0.805 0.346 0.55
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.500 None 1.000 1 0 2017 2017
Entrez Id: 6165
Gene Symbol: RPL35A
RPL35A 		ribosomal protein L35a 0.736 0.385 0.90
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.470 strong 0.875 2 0 2008 2017
Entrez Id: 6201
Gene Symbol: RPS7
RPS7 		ribosomal protein S7 0.682 0.462 0.95
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.450 strong 1.000 3 0 2008 2017
Entrez Id: 6231
Gene Symbol: RPS26
RPS26 		ribosomal protein S26 0.716 0.538 0.85
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.360 strong 0.889 4 0 2010 2019
Entrez Id: 2056
Gene Symbol: EPO
EPO 		erythropoietin 0.381 0.885 1.1E-02
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.340 limited 1.000 1 0 1992 2017
Entrez Id: 6204
Gene Symbol: RPS10
RPS10 		ribosomal protein S10 0.729 0.462 0.97
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.330 strong 1.000 4 0 2010 2017
Entrez Id: 6160
Gene Symbol: RPL31
RPL31 		ribosomal protein L31 0.780 0.308 0.85
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.310 strong 1.000 2 0 2014 2017
Entrez Id: 6133
Gene Symbol: RPL9
RPL9 		ribosomal protein L9 0.805 0.308 0.96
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.310 None 1.000 2 0 2010 2020
Entrez Id: 6209
Gene Symbol: RPS15
RPS15 		ribosomal protein S15 0.695 0.231 0.83
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 6143
Gene Symbol: RPL19
RPL19 		ribosomal protein L19 0.751 0.308 0.98
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.300 limited 1.000 1 0 2013 2013