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: 10767
Gene Symbol: HBS1L
HBS1L
HBS1 like translational GTPase 0.705 0.462 1.9E-07
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 8 19 2009 2019
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
transferrin receptor 2 0.585 0.615 1.3E-09
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 7 3 2009 2019
Entrez Id: 896
Gene Symbol: CCND3
CCND3
cyclin D3 0.554 0.654 0.98
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 6 23 2009 2019
Entrez Id: 221262
Gene Symbol: CCDC162P
CCDC162P
coiled-coil domain containing 162, pseudogene 0.890 0.154
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 6 8 2009 2019
Entrez Id: 5581
Gene Symbol: PRKCE
PRKCE
protein kinase C epsilon 0.597 0.692 1.00
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 6 14 2009 2019
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
RNA terminal phosphate cyclase like 1 0.792 0.192 5.9E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 5 17 2009 2019
Entrez Id: 220972
Gene Symbol: MARCHF8
MARCHF8
membrane associated ring-CH-type finger 8 0.590 0.692 5.9E-07
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 4 5 2009 2019
Entrez Id: 10320
Gene Symbol: IKZF1
IKZF1
IKAROS family zinc finger 1 0.533 0.769 1.00
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 4 5 2009 2019
Entrez Id: 100529261
Gene Symbol: CHURC1-FNTB
CHURC1-FNTB
CHURC1-FNTB readthrough 5.3E-05
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 3 9 2009 2019
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 3 4 2009 2019
Entrez Id: 4149
Gene Symbol: MAX
MAX
MYC associated factor X 0.553 0.769 0.83
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 3 9 2009 2019
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2 0.582 0.654 1.00
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 3 2 2009 2019
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
ataxin 2 0.482 0.808 0.85
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 3 4 2009 2019
Entrez Id: 2342
Gene Symbol: FNTB
FNTB
farnesyltransferase, CAAX box, beta 1.000 0.077 7.9E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 3 9 2009 2019
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 3 1 2009 2019
Entrez Id: 3098
Gene Symbol: HK1
HK1
hexokinase 1 0.542 0.731 0.91
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 3 3 2009 2019
Entrez Id: 22983
Gene Symbol: MAST1
MAST1
microtubule associated serine/threonine kinase 1 0.711 0.385 1.00
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 2 10 2009 2018
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
glutaryl-CoA dehydrogenase 0.691 0.385 4.9E-03
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 2 7 2009 2018
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
synaptonemal complex central element protein 2 1.000 0.115 0.28
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 2 6 2009 2018
Entrez Id: 25862
Gene Symbol: USP49
USP49
ubiquitin specific peptidase 49 0.861 0.192 0.94
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 2 31 2009 2016
Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2
hook microtubule tethering protein 2 0.659 0.654 4.6E-18
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 2 11 2009 2018
Entrez Id: 2193
Gene Symbol: FARSA
FARSA
phenylalanyl-tRNA synthetase subunit alpha 0.890 0.154 1.4E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 2 2 2009 2016
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
mannosidase alpha class 2B member 1 0.674 0.462 4.8E-22
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 2 2 2009 2019
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
transmembrane serine protease 6 0.584 0.654 4.1E-10
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 2 25 2009 2019
Entrez Id: 3077
Gene Symbol: HFE
HFE
homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 2 6 2009 2016