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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
erythropoietin receptor | 0.526 | 0.692 | 1.0E-02 |
|
disease | 0.800 | strong | 0.867 | 15 | 7 | 1993 | 2018 | ||||||||
|
Janus kinase 2 | 0.385 | 0.885 | 0.65 |
|
disease | 0.460 | None | 0.833 | 6 | 4 | 1999 | 2016 | ||||||||
|
erythropoietin | 0.381 | 0.885 | 1.1E-02 |
|
disease | 0.400 | limited | 1.000 | 12 | 0 | 1977 | 2019 | ||||||||
|
SH2B adaptor protein 3 | 0.527 | 0.692 | 1.0E-04 |
|
disease | 0.400 | None | 0 | 2 | |||||||||||
|
hemoglobin subunit beta | 0.494 | 0.808 | 1.2E-09 |
|
disease | 0.320 | strong | 1.000 | 3 | 0 | 2005 | 2014 | ||||||||
|
hypoxia inducible factor 1 subunit alpha | 0.327 | 0.923 | 0.98 |
|
disease | 0.310 | None | 1.000 | 2 | 0 | 2008 | 2012 | ||||||||
|
pyruvate kinase L/R | 0.603 | 0.615 | 3.5E-07 |
|
disease | 0.300 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
hemoglobin subunit alpha 1 | 0.508 | 0.808 | 6.7E-03 |
|
disease | 0.300 | strong | 1.000 | 1 | 0 | 2005 | 2005 | ||||||||
|
egl-9 family hypoxia inducible factor 2 | 0.604 | 0.731 | 0.72 |
|
disease | 0.300 | limited | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
ataxin 2 | 0.482 | 0.808 | 0.85 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
egl-9 family hypoxia inducible factor 1 | 0.540 | 0.731 | 0.97 |
|
disease | 0.080 | None | 0.875 | 8 | 1 | 2006 | 2012 | ||||||||
|
endothelial PAS domain protein 1 | 0.454 | 0.731 | 0.60 |
|
disease | 0.070 | None | 1.000 | 7 | 0 | 2008 | 2018 | ||||||||
|
Rho guanine nucleotide exchange factor 7 | 0.486 | 0.846 | 1.00 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2007 | 2009 | ||||||||
|
signal transducer and activator of transcription 5A | 0.445 | 0.808 | 1.00 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 1999 | 1999 | ||||||||
|
signal transducer and activator of transcription 5B | 0.442 | 0.808 | 1.00 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 1999 | 1999 | ||||||||
|
von Hippel-Lindau tumor suppressor | 0.443 | 0.846 | 8.0E-02 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2005 | 2018 | ||||||||
|
hypoxia inducible factor 3 subunit alpha | 0.682 | 0.538 | 1.5E-03 |
|
disease | 0.010 | None | < 0.001 | 1 | 0 | 2019 | 2019 | ||||||||
|
protein phosphatase 1 regulatory subunit 12C | 0.626 | 0.654 | 8.7E-02 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
CBFA2/RUNX1 partner transcriptional co-repressor 2 | 0.615 | 0.654 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
phosphoinositide-3-kinase regulatory subunit 2 | 0.551 | 0.808 | 1.6E-02 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
H3 histone pseudogene 40 | 0.506 | 0.846 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | |||||||||
|
protein phosphatase 1 regulatory subunit 13B | 0.599 | 0.692 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
hemoglobin subunit gamma 2 | 0.565 | 0.692 | 0.67 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1972 | 1972 | ||||||||
|
MPL proto-oncogene, thrombopoietin receptor | 0.510 | 0.692 | 4.1E-09 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
nuclear factor kappa B subunit 1 | 0.396 | 0.923 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 |