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: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.800 strong 0.994 189 4 1961 2019
Entrez Id: 3040
Gene Symbol: HBA2
HBA2
hemoglobin subunit alpha 2 0.512 0.808 3.1E-03
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.400 None 0.981 106 0 1978 2020
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
hepcidin antimicrobial peptide 0.433 0.846 8.2E-03
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.400 None 1.000 19 0 2005 2019
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
transferrin receptor 0.437 0.885 7.0E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.350 None 1.000 4 0 1990 2018
Entrez Id: 2056
Gene Symbol: EPO
EPO
erythropoietin 0.381 0.885 1.1E-02
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.340 None 1.000 4 0 1999 2017
Entrez Id: 3934
Gene Symbol: LCN2
LCN2
lipocalin 2 0.405 0.885 1.1E-09
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.320 None 1.000 1 0 2006 2008
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
transferrin receptor 2 0.585 0.615 1.3E-09
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.310 None 1.000 1 0 2006 2006
Entrez Id: 10661
Gene Symbol: KLF1
KLF1
Kruppel like factor 1 0.621 0.462 3.6E-04
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.260 None 1.000 6 0 1994 2019
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.100 None 0.986 70 0 1978 2020
Entrez Id: 3048
Gene Symbol: HBG2
HBG2
hemoglobin subunit gamma 2 0.565 0.692 0.67
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.100 None 0.972 36 0 1976 2020
Entrez Id: 3047
Gene Symbol: HBG1
HBG1
hemoglobin subunit gamma 1 0.615 0.538 0.57
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.100 None 0.966 29 0 1976 2020
Entrez Id: 51327
Gene Symbol: AHSP
AHSP
alpha hemoglobin stabilizing protein 0.700 0.385 3.3E-04
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.100 None 0.800 10 0 2004 2019
Entrez Id: 7954
Gene Symbol: HBFQTL2
HBFQTL2
hereditary persistence of fetal hemoglobin, heterocellular 0.700 0.192
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.100 None 0.900 10 0 1979 2018
Entrez Id: 5367
Gene Symbol: PMCH
PMCH
pro-melanin concentrating hormone 0.615 0.808 0.11
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.100 None 1.000 10 0 1977 2011
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.100 None 0.900 9 1 2008 2019
Entrez Id: 3045
Gene Symbol: HBD
HBD
hemoglobin subunit delta 0.659 0.231
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.090 None 0.889 9 0 1982 2015
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
glucose-6-phosphate dehydrogenase 0.424 0.846 0.97
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.070 None 1.000 7 0 1980 2019
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
integrin subunit alpha 2b 0.493 0.692 1.5E-16
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.060 None 1.000 6 0 2001 2019
Entrez Id: 3077
Gene Symbol: HFE
HFE
homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.060 None 1.000 6 3 1999 2006
Entrez Id: 4602
Gene Symbol: MYB
MYB
MYB proto-oncogene, transcription factor 0.490 0.692 0.82
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.050 None 0.800 5 0 2008 2018
Entrez Id: 6395
Gene Symbol: SEA
SEA
S13 erythroblastosis (avian) oncogene homolog 0.606 0.615
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.050 None 1.000 5 0 2001 2018
Entrez Id: 106480993
Gene Symbol: RN7SL263P
RN7SL263P
RNA, 7SL, cytoplasmic 263, pseudogene 0.496 0.808
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.050 None 1.000 5 0 1980 2015
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
UDP glucuronosyltransferase family 1 member A1 0.464 0.769 3.3E-06
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.040 None 1.000 4 0 1997 2010
Entrez Id: 947
Gene Symbol: CD34
CD34
CD34 molecule 0.368 0.808 5.0E-06
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.040 None 1.000 4 0 2000 2012
Entrez Id: 54575
Gene Symbol: UGT1A10
UGT1A10
UDP glucuronosyltransferase family 1 member A10 0.588 0.615 4.6E-19
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.030 None 1.000 3 0 1997 2009