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: 115482713
Gene Symbol: H3P10
H3P10
H3 histone pseudogene 10 0.350 0.846
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 4056
Gene Symbol: LTC4S
LTC4S
leukotriene C4 synthase 0.647 0.731 8.5E-04
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None < 0.001 1 0 2002 2002
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 841
Gene Symbol: CASP8
CASP8
caspase 8 0.404 0.923 3.7E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None < 0.001 1 0 2000 2000
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: 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
Entrez Id: 56996
Gene Symbol: SLC12A9
SLC12A9
solute carrier family 12 member 9 0.454 0.769 1.2E-15
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.030 None 0.667 3 0 1995 1996
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: 7070
Gene Symbol: THY1
THY1
Thy-1 cell surface antigen 0.496 0.808 5.0E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.050 None 0.800 5 0 1990 2000
Entrez Id: 8115
Gene Symbol: TCL1A
TCL1A
T cell leukemia/lymphoma 1A 0.558 0.500 5.7E-10
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.060 None 0.833 6 0 1995 2004
Entrez Id: 9623
Gene Symbol: TCL1B
TCL1B
T cell leukemia/lymphoma 1B 0.561 0.500 1.0E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.070 None 0.857 7 0 1995 2004
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: 1026
Gene Symbol: CDKN1A
CDKN1A
cyclin dependent kinase inhibitor 1A 0.403 0.769 1.9E-03
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.080 None 0.875 8 0 1995 2013
Entrez Id: 23064
Gene Symbol: SETX
SETX
senataxin 0.570 0.731 0.95
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.080 None 0.875 8 1 2004 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.100 None 0.939 49 1 1992 2019
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: 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: 3014
Gene Symbol: H2AX
H2AX
H2A.X variant histone 0.484 0.808 0.18
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.100 None 1.000 15 0 2004 2019
Entrez Id: 1111
Gene Symbol: CHEK1
CHEK1
checkpoint kinase 1 0.492 0.808 3.1E-08
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.100 None 1.000 15 0 1999 2020
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.467 0.808 2.2E-16
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.100 None 1.000 14 0 1997 2011
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.100 None 1.000 12 0 1995 2018
Entrez Id: 54840
Gene Symbol: APTX
APTX
aprataxin 0.590 0.500 4.0E-10
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.100 None 1.000 11 0 2000 2017
Entrez Id: 55655
Gene Symbol: NLRP2
NLRP2
NLR family pyrin domain containing 2 0.515 0.731 1.4E-38
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.100 None 1.000 10 0 2002 2011
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
MRE11 homolog, double strand break repair nuclease 0.527 0.808 1.3E-12
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.090 None 1.000 9 0 2003 2019