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 2 14 2009 2019
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: 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: 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: 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: 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: 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: 55604
Gene Symbol: CARMIL1
CARMIL1
capping protein regulator and myosin 1 linker 1 0.722 0.500 3.4E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 10 2009 2009
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: 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: 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: 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: 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: 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: 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 1 1 2009 2019
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: 705
Gene Symbol: BYSL
BYSL
bystin like 0.821 0.231 1.0E-04
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: 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: 91289
Gene Symbol: LMF2
LMF2
lipase maturation factor 2 0.890 0.154 2.4E-50
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: 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: 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: 83546
Gene Symbol: RTBDN
RTBDN
retbindin 0.839 0.038 3.0E-10
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: 8347
Gene Symbol: H2BC4
H2BC4
H2B clustered histone 4 0.760 0.269 3.8E-03
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype 0.100 None 1.000 1 2 2009 2016
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