Source: BEFREE

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 0.982 417 9 1953 2020
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: 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: 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 14 0 2004 2019
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 13 0 1997 2011
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: 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 11 0 1995 2018
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
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: 23650
Gene Symbol: TRIM29
TRIM29
tripartite motif containing 29 0.606 0.654 8.1E-08
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.080 None 1.000 8 0 1994 2019
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 6 0 1995 2013
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: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.070 None 1.000 7 0 2006 2019
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: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.060 None 1.000 6 0 1999 2015
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: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
T cell receptor beta variable 20/OR9-2 (non-functional) 0.403 0.923
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.060 None 1.000 6 0 1990 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: 2120
Gene Symbol: ETV6
ETV6
ETS variant transcription factor 6 0.477 0.731 0.97
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.050 None 1.000 5 0 1995 2019
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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.040 None 1.000 4 2 2017 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
serpin family A member 1 0.410 0.923 6.8E-08
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.040 None 1.000 4 0 2014 2019
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