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: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 1.000 None 0.982 623 680 1953 2020
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.100 None 1.000 180 265 1953 2018
Entrez Id: 174
Gene Symbol: AFP
AFP
alpha fetoprotein 0.429 0.885 1.1E-11
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.100 None 0.944 18 0 1980 2019
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
DNA ligase 4 0.478 0.846 4.2E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.020 None 1.000 2 0 1981 2019
Entrez Id: 3930
Gene Symbol: LBR
LBR
lamin B receptor 0.473 0.808 0.18
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1983 1983
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.020 None 1.000 2 0 1984 1989
Entrez Id: 847
Gene Symbol: CAT
CAT
catalase 0.359 0.962 1.6E-10
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.020 None 0.500 2 0 1986 1989
Entrez Id: 1719
Gene Symbol: DHFR
DHFR
dihydrofolate reductase 0.513 0.808 3.4E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.020 None 1.000 2 0 1987 1994
Entrez Id: 3005
Gene Symbol: H1-0
H1-0
H1.0 linker histone 0.663 0.692 0.64
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.020 None 1.000 2 0 1987 2000
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
glucose-6-phosphate dehydrogenase 0.424 0.846 0.97
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 3492
Gene Symbol: IGH
IGH
immunoglobulin heavy locus 0.473 0.654
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.030 None 1.000 3 0 1988 2004
Entrez Id: 102723407
Gene Symbol: LOC102723407
LOC102723407
immunoglobulin heavy variable 4-38-2-like 0.514 0.769
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 9709
Gene Symbol: HERPUD1
HERPUD1
homocysteine inducible ER protein with ubiquitin like domain 1 0.606 0.692 1.00
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
synaptosome associated protein 25 0.489 0.808 0.99
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 28402
Gene Symbol: IGHV3-69-1
IGHV3-69-1
immunoglobulin heavy variable 3-69-1 (pseudogene) 0.561 0.654
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 2217
Gene Symbol: FCGRT
FCGRT
Fc fragment of IgG receptor and transporter 0.563 0.654 4.1E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
immunoglobulin heavy variable 3/OR16-7 (pseudogene) 0.566 0.654
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 102724971
Gene Symbol: LOC102724971
LOC102724971
putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 0.527 0.769
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 2395
Gene Symbol: FXN
FXN
frataxin 0.510 0.654 0.34
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.070 None 0.857 7 0 1989 2011
Entrez Id: 952
Gene Symbol: CD38
CD38
CD38 molecule 0.407 0.885 2.3E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.050 None 1.000 5 0 1989 1994
Entrez Id: 8102
Gene Symbol: XRS
XRS
X-ray sensitivity 0.716 0.500
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.040 None 0.750 4 0 1989 2014
Entrez Id: 8660
Gene Symbol: IRS2
IRS2
insulin receptor substrate 2 0.535 0.654 0.99
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.030 None 1.000 3 0 1989 1995
Entrez Id: 2335
Gene Symbol: FN1
FN1
fibronectin 1 0.365 0.962 1.4E-03
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.020 None 1.000 2 0 1989 2019
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
insulin receptor substrate 1 0.488 0.769 2.4E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.020 None 1.000 2 0 1989 1990
Entrez Id: 2993
Gene Symbol: GYPA
GYPA
glycophorin A (MNS blood group) 0.538 0.885 1.1E-03
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.020 None 0.500 2 0 1989 1999