Source: HPO

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: 57817
Gene Symbol: HAMP
HAMP
hepcidin antimicrobial peptide 0.433 0.846 8.2E-03
CUI: C0002871
Disease: Anemia
Anemia
disease 0.700 None 0.966 0 0 2002 2020
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C0002871
Disease: Anemia
Anemia
disease 0.500 strong 1.000 0 0 2000 2019
Entrez Id: 2056
Gene Symbol: EPO
EPO
erythropoietin 0.381 0.885 1.1E-02
CUI: C0002871
Disease: Anemia
Anemia
disease 0.500 None 0.977 0 0 1984 2020
Entrez Id: 5972
Gene Symbol: REN
REN
renin 0.370 0.923 2.4E-07
CUI: C0002871
Disease: Anemia
Anemia
disease 0.500 None 1.000 0 0 1986 2019
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
solute carrier family 40 member 1 0.570 0.731 0.99
CUI: C0002871
Disease: Anemia
Anemia
disease 0.430 None 1.000 0 0 2004 2008
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0002871
Disease: Anemia
Anemia
disease 0.400 None 1.000 0 0 1980 2019
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0002871
Disease: Anemia
Anemia
disease 0.350 None 1.000 0 0 1997 2011
Entrez Id: 7018
Gene Symbol: TF
TF
transferrin 0.527 0.846 4.1E-08
CUI: C0002871
Disease: Anemia
Anemia
disease 0.310 None 1.000 0 0 2013 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0002871
Disease: Anemia
Anemia
disease 0.200 None 0.846 0 0 2006 2019
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C0002871
Disease: Anemia
Anemia
disease 0.200 None 0.947 0 0 1979 2018
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
transferrin receptor 0.437 0.885 7.0E-05
CUI: C0002871
Disease: Anemia
Anemia
disease 0.200 None 1.000 0 0 1999 2019
Entrez Id: 3040
Gene Symbol: HBA2
HBA2
hemoglobin subunit alpha 2 0.512 0.808 3.1E-03
CUI: C0002871
Disease: Anemia
Anemia
disease 0.200 None 0.957 0 0 1979 2018
Entrez Id: 10661
Gene Symbol: KLF1
KLF1
Kruppel like factor 1 0.621 0.462 3.6E-04
CUI: C0002871
Disease: Anemia
Anemia
disease 0.190 None 1.000 0 0 2006 2018
Entrez Id: 3048
Gene Symbol: HBG2
HBG2
hemoglobin subunit gamma 2 0.565 0.692 0.67
CUI: C0002871
Disease: Anemia
Anemia
disease 0.170 None 1.000 0 0 1993 2017
Entrez Id: 1356
Gene Symbol: CP
CP
ceruloplasmin 0.466 0.846 4.2E-10
CUI: C0002871
Disease: Anemia
Anemia
disease 0.170 None 1.000 0 0 2000 2019
Entrez Id: 3047
Gene Symbol: HBG1
HBG1
hemoglobin subunit gamma 1 0.615 0.538 0.57
CUI: C0002871
Disease: Anemia
Anemia
disease 0.160 None 1.000 0 0 1993 2017
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
acyl-CoA dehydrogenase family member 8 0.506 0.885 5.6E-14
CUI: C0002871
Disease: Anemia
Anemia
disease 0.160 None 1.000 0 0 2017 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0002871
Disease: Anemia
Anemia
disease 0.150 None 1.000 0 0 2006 2014
Entrez Id: 811
Gene Symbol: CALR
CALR
calreticulin 0.413 0.923 0.89
CUI: C0002871
Disease: Anemia
Anemia
disease 0.150 None 0.800 0 0 2014 2019
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
interferon gamma 0.288 0.962 0.47
CUI: C0002871
Disease: Anemia
Anemia
disease 0.150 None 1.000 0 0 1999 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0002871
Disease: Anemia
Anemia
disease 0.140 None 1.000 0 0 2002 2019
Entrez Id: 4352
Gene Symbol: MPL
MPL
MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
CUI: C0002871
Disease: Anemia
Anemia
disease 0.130 None 1.000 0 0 2007 2013
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
transferrin receptor 2 0.585 0.615 1.3E-09
CUI: C0002871
Disease: Anemia
Anemia
disease 0.130 None 0.333 0 0 2006 2012
Entrez Id: 3593
Gene Symbol: IL12B
IL12B
interleukin 12B 0.480 0.885 1.1E-04
CUI: C0002871
Disease: Anemia
Anemia
disease 0.130 None 1.000 0 0 2006 2011
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0002871
Disease: Anemia
Anemia
disease 0.130 None 1.000 0 0 2004 2017