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: 100529261
Gene Symbol: CHURC1-FNTB
CHURC1-FNTB
CHURC1-FNTB readthrough 5.3E-05
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2009 2017
Entrez Id: 3077
Gene Symbol: HFE
HFE
homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 2 1 2009 2012
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
transferrin receptor 0.437 0.885 7.0E-05
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2009 2018
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 2 2 2013 2013
Entrez Id: 10320
Gene Symbol: IKZF1
IKZF1
IKAROS family zinc finger 1 0.533 0.769 1.00
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2009 2018
Entrez Id: 4149
Gene Symbol: MAX
MAX
MYC associated factor X 0.553 0.769 0.83
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2009 2017
Entrez Id: 896
Gene Symbol: CCND3
CCND3
cyclin D3 0.554 0.654 0.98
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 3 3 2009 2018
Entrez Id: 7068
Gene Symbol: THRB
THRB
thyroid hormone receptor beta 0.554 0.769 1.00
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2010 2018
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
TNF receptor superfamily member 13B 0.558 0.769 2.1E-15
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 3048
Gene Symbol: HBG2
HBG2
hemoglobin subunit gamma 2 0.565 0.692 0.67
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 9415
Gene Symbol: FADS2
FADS2
fatty acid desaturase 2 0.575 0.692 1.00
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 3992
Gene Symbol: FADS1
FADS1
fatty acid desaturase 1 0.582 0.769 0.37
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
transmembrane serine protease 6 0.584 0.654 4.1E-10
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 4 7 2009 2019
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
transferrin receptor 2 0.585 0.615 1.3E-09
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2012 2017
Entrez Id: 4357
Gene Symbol: MPST
MPST
mercaptopyruvate sulfurtransferase 0.588 0.654 3.5E-05
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2012 2012
Entrez Id: 10919
Gene Symbol: EHMT2
EHMT2
euchromatic histone lysine methyltransferase 2 0.590 0.808 1.0E-04
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 220972
Gene Symbol: MARCHF8
MARCHF8
membrane associated ring-CH-type finger 8 0.590 0.692 5.9E-07
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2009 2017
Entrez Id: 3428
Gene Symbol: IFI16
IFI16
interferon gamma inducible protein 16 0.603 0.769 1.8E-11
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 4354
Gene Symbol: MPP1
MPP1
membrane palmitoylated protein 1 0.617 0.500 0.99
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 25793
Gene Symbol: FBXO7
FBXO7
F-box protein 7 0.650 0.769 5.8E-07
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 2 2012 2018
Entrez Id: 7916
Gene Symbol: PRRC2A
PRRC2A
proline rich coiled-coil 2A 0.656 0.654 1.00
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 2 2013 2013
Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2
hook microtubule tethering protein 2 0.659 0.654 4.6E-18
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2009 2017
Entrez Id: 8131
Gene Symbol: NPRL3
NPRL3
NPR3 like, GATOR1 complex subunit 0.678 0.385 0.19
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2013 2018
Entrez Id: 3046
Gene Symbol: HBE1
HBE1
hemoglobin subunit epsilon 1 0.686 0.269 2.0E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 8859
Gene Symbol: STK19
STK19
serine/threonine kinase 19 0.691 0.500 6.7E-09
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype 0.100 None 1.000 1 1 2013 2013