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: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
transferrin receptor 0.437 0.885 7.0E-05
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 11 2009 2009
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 1 5 2009 2016
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 3 2009 2009
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 1 4 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 1 4 2009 2019
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
thymidine phosphorylase 0.495 0.769 1.2E-04
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 1 2009 2009
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 1 8 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 1 2 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 1 2 2009 2019
Entrez Id: 7942
Gene Symbol: TFEB
TFEB
transcription factor EB 0.527 0.731 0.90
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 1 2009 2009
Entrez Id: 8366
Gene Symbol: H4C2
H4C2
H4 clustered histone 2 0.537 0.731 2.9E-03
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 2 2009 2009
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 1 1 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 1 2 2009 2019
Entrez Id: 4602
Gene Symbol: MYB
MYB
MYB proto-oncogene, transcription factor 0.490 0.692 0.82
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 10 2009 2017
Entrez Id: 5225
Gene Symbol: PGC
PGC
progastricsin 0.603 0.692 6.8E-11
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 1 2009 2009
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 1 4 2009 2019
Entrez Id: 80018
Gene Symbol: NAA25
NAA25
N-alpha-acetyltransferase 25, NatB auxiliary subunit 0.603 0.692 1.00
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 1 2009 2009
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 1 24 2009 2019
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 1 10 2009 2018
Entrez Id: 4357
Gene Symbol: MPST
MPST
mercaptopyruvate sulfurtransferase 0.588 0.654 3.5E-05
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 2 2009 2009
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 1 2 2009 2019
Entrez Id: 7263
Gene Symbol: TST
TST
thiosulfate sulfurtransferase 0.588 0.654 7.9E-05
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 1 2009 2009
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 1 19 2009 2019
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1
spectrin alpha, erythrocytic 1 0.638 0.538 2.6E-18
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 7 2009 2019