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: 128368
Gene Symbol: OR10Z1
OR10Z1
olfactory receptor family 10 subfamily Z member 1 0.11
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: 339669
Gene Symbol: TEX33
TEX33
testis expressed 33 1.2E-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: 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: 10786
Gene Symbol: SLC17A3
SLC17A3
solute carrier family 17 member 3 0.769 0.385 4.9E-22
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: 29964
Gene Symbol: PRICKLE4
PRICKLE4
prickle planar cell polarity protein 4 0.839 0.154 4.0E-05
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: 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: 8418
Gene Symbol: CMAHP
CMAHP
cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene 0.805 0.346
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: 9477
Gene Symbol: MED20
MED20
mediator complex subunit 20 0.861 0.077 0.30
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 4 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: 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: 1777
Gene Symbol: DNASE2
DNASE2
deoxyribonuclease 2, lysosomal 0.700 0.462 4.5E-04
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 4 2009 2009
Entrez Id: 10817
Gene Symbol: FRS3
FRS3
fibroblast growth factor receptor substrate 3 0.890 0.115 0.55
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 4 2009 2009
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 1 4 2009 2018
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 1 4 2009 2019
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 1 5 2009 2018
Entrez Id: 8334
Gene Symbol: H2AC6
H2AC6
H2A clustered histone 6 0.821 0.269 0.60
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 5 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: 6568
Gene Symbol: SLC17A1
SLC17A1
solute carrier family 17 member 1 0.760 0.462 4.1E-16
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 6 2009 2009
Entrez Id: 29781
Gene Symbol: NCAPH2
NCAPH2
non-SMC condensin II complex subunit H2 0.805 0.385 2.9E-04
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 6 2009 2009
Entrez Id: 10475
Gene Symbol: TRIM38
TRIM38
tripartite motif containing 38 0.792 0.346 1.4E-08
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 6 2009 2009
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
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: 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 1 8 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 1 8 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 1 9 2009 2018