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: 51816
Gene Symbol: ADA2
ADA2
adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease 0.300 None 1.000 2 0 2012 2014
Entrez Id: 6138
Gene Symbol: RPL15
RPL15
ribosomal protein L15 0.686 0.615 0.97
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease 0.300 None 1.000 1 0 2013 2013
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
Entrez Id: 6154
Gene Symbol: RPL26
RPL26
ribosomal protein L26 0.695 0.423 0.92
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 6155
Gene Symbol: RPL27
RPL27
ribosomal protein L27 0.769 0.385 0.85
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 11224
Gene Symbol: RPL35
RPL35
ribosomal protein L35 0.805 0.346 0.55
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 6210
Gene Symbol: RPS15A
RPS15A
ribosomal protein S15a 0.638 0.538 0.80
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 6232
Gene Symbol: RPS27
RPS27
ribosomal protein S27 0.578 0.769 0.76
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 6234
Gene Symbol: RPS28
RPS28
ribosomal protein S28 0.716 0.423 0.68
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease 0.300 None 1.000 1 0 2014 2014
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
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