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: 3040
Gene Symbol: HBA2
HBA2
hemoglobin subunit alpha 2 0.512 0.808 3.1E-03
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.800 strong 0.987 153 12 1971 2019
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.800 strong 0.985 134 4 1979 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.500 None 1.000 20 14 1985 2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.300 None 1.000 20 1 1996 2018
Entrez Id: 6395
Gene Symbol: SEA
SEA
S13 erythroblastosis (avian) oncogene homolog 0.606 0.615
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.100 None 0.938 16 0 1989 2017
Entrez Id: 3048
Gene Symbol: HBG2
HBG2
hemoglobin subunit gamma 2 0.565 0.692 0.67
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.100 None 1.000 10 0 1980 2013
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
glucose-6-phosphate dehydrogenase 0.424 0.846 0.97
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.100 None 0.900 10 0 1980 2019
Entrez Id: 3050
Gene Symbol: HBZ
HBZ
hemoglobin subunit zeta 0.686 0.346 2.1E-02
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.090 None 0.889 9 0 1985 2013
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.070 None 1.000 7 0 1995 2011
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
UDP glucuronosyltransferase family 1 member A1 0.464 0.769 3.3E-06
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.070 None 0.857 7 0 2006 2017
Entrez Id: 5367
Gene Symbol: PMCH
PMCH
pro-melanin concentrating hormone 0.615 0.808 0.11
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.070 None 1.000 7 0 1979 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.050 None 1.000 5 0 1992 2012
Entrez Id: 3047
Gene Symbol: HBG1
HBG1
hemoglobin subunit gamma 1 0.615 0.538 0.57
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.050 None 1.000 5 0 1987 2009
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.050 None 1.000 5 0 1992 2012
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.050 None 1.000 5 0 1992 2012
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.050 None 1.000 5 0 1992 2012
Entrez Id: 1311
Gene Symbol: COMP
COMP
cartilage oligomeric matrix protein 0.503 0.808 1.3E-09
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.050 None 1.000 5 0 1992 2012
Entrez Id: 4602
Gene Symbol: MYB
MYB
MYB proto-oncogene, transcription factor 0.490 0.692 0.82
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.030 None 1.000 3 0 2009 2015
Entrez Id: 10767
Gene Symbol: HBS1L
HBS1L
HBS1 like translational GTPase 0.705 0.462 1.9E-07
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.030 None 1.000 3 1 2009 2015
Entrez Id: 106480993
Gene Symbol: RN7SL263P
RN7SL263P
RNA, 7SL, cytoplasmic 263, pseudogene 0.496 0.808
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.030 None 1.000 3 0 1988 2010
Entrez Id: 3240
Gene Symbol: HP
HP
haptoglobin 0.412 0.885 1.7E-05
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.030 None 1.000 3 0 2006 2014
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.020 None 1.000 2 3 2009 2015
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.020 None 1.000 2 0 2017 2017
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1
adaptor related protein complex 5 subunit zeta 1 0.700 0.346 7.3E-31
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.020 None 1.000 2 0 1986 1995
Entrez Id: 5686
Gene Symbol: PSMA5
PSMA5
proteasome 20S subunit alpha 5 0.674 0.538 0.99
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.020 None 1.000 2 0 1986 1995