Source: ALL

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: 164656
Gene Symbol: TMPRSS6
TMPRSS6 		transmembrane serine protease 6 0.584 0.654 4.1E-10
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 9 43 2010 2019
Entrez Id: 83986
Gene Symbol: FAM234A
FAM234A 		family with sequence similarity 234 member A 1.000 0.077 1.5E-12
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 8 10 2012 2019
Entrez Id: 10767
Gene Symbol: HBS1L
HBS1L 		HBS1 like translational GTPase 0.705 0.462 1.9E-07
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 7 105 2009 2018
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1 		spectrin alpha, erythrocytic 1 0.638 0.538 2.6E-18
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 4 27 2009 2018
Entrez Id: 8131
Gene Symbol: NPRL3
NPRL3 		NPR3 like, GATOR1 complex subunit 0.678 0.385 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 4 21 2012 2019
Entrez Id: 28
Gene Symbol: ABO
ABO 		ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase 0.427 0.885
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 4 20 2010 2018
Entrez Id: 9780
Gene Symbol: PIEZO1
PIEZO1 		piezo type mechanosensitive ion channel component 1 0.552 0.769 3.9E-21
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 4 10 2012 2019
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 4 10 2010 2018
Entrez Id: 493
Gene Symbol: ATP2B4
ATP2B4 		ATPase plasma membrane Ca2+ transporting 4 0.659 0.577 1.5E-03
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 4 27 2012 2017
Entrez Id: 286
Gene Symbol: ANK1
ANK1 		ankyrin 1 0.540 0.885 1.00
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 3 17 2012 2017
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 3 2 2017 2019
Entrez Id: 2766
Gene Symbol: GMPR
GMPR 		guanosine monophosphate reductase 0.792 0.231 1.3E-05
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 3 23 2012 2018
Entrez Id: 25893
Gene Symbol: TRIM58
TRIM58 		tripartite motif containing 58 0.769 0.115 1.3E-10
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 3 1 2012 2018
Entrez Id: 2342
Gene Symbol: FNTB
FNTB 		farnesyltransferase, CAAX box, beta 1.000 0.077 7.9E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 3 14 2012 2018
Entrez Id: 100529261
Gene Symbol: CHURC1-FNTB
CHURC1-FNTB 		CHURC1-FNTB readthrough 5.3E-05
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 3 14 2012 2018
Entrez Id: 4149
Gene Symbol: MAX
MAX 		MYC associated factor X 0.553 0.769 0.83
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 3 14 2012 2018
Entrez Id: 221262
Gene Symbol: CCDC162P
CCDC162P 		coiled-coil domain containing 162, pseudogene 0.890 0.154
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 3 161 2012 2016
Entrez Id: 217
Gene Symbol: ALDH2
ALDH2 		aldehyde dehydrogenase 2 family member 0.457 0.885 3.4E-10
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 3 3 2010 2017
Entrez Id: 7036
Gene Symbol: TFR2
TFR2 		transferrin receptor 2 0.585 0.615 1.3E-09
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 3 11 2012 2018
Entrez Id: 3048
Gene Symbol: HBG2
HBG2 		hemoglobin subunit gamma 2 0.565 0.692 0.67
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 2 1 2013 2019
Entrez Id: 3050
Gene Symbol: HBZ
HBZ 		hemoglobin subunit zeta 0.686 0.346 2.1E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 2 2 2016 2018
Entrez Id: 23205
Gene Symbol: ACSBG1
ACSBG1 		acyl-CoA synthetase bubblegum family member 1 0.603 0.654 4.0E-05
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 2 5 2012 2016
Entrez Id: 23316
Gene Symbol: CUX2
CUX2 		cut like homeobox 2 0.644 0.500 1.00
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 2 2 2012 2018
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 2 2 2012 2017
Entrez Id: 10723
Gene Symbol: SLC12A7
SLC12A7 		solute carrier family 12 member 7 0.769 0.385 1.4E-17
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype 0.100 None 1.000 2 5 2017 2018