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: 79719
Gene Symbol: AAGAB
AAGAB
alpha and gamma adaptin binding protein 0.695 0.538 3.9E-07
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 31
Gene Symbol: ACACA
ACACA
acetyl-CoA carboxylase alpha 0.480 0.846 1.00
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.030 None 1.000 3 0 1994 1997
Entrez Id: 59272
Gene Symbol: ACE2
ACE2
angiotensin I converting enzyme 2 0.477 0.769 1.00
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2018 2018
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: 154
Gene Symbol: ADRB2
ADRB2
adrenoceptor beta 2 0.442 0.923 0.53
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 1 2011 2011
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: 183
Gene Symbol: AGT
AGT
angiotensinogen 0.367 0.923 5.0E-08
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.030 None 1.000 3 0 2013 2019
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
angiotensin II receptor type 1 0.423 0.846 5.3E-04
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2
angiotensin II receptor type 2 0.496 0.808 8.2E-03
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 208
Gene Symbol: AKT2
AKT2
AKT serine/threonine kinase 2 0.474 0.769 0.64
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 240
Gene Symbol: ALOX5
ALOX5
arachidonate 5-lipoxygenase 0.447 0.885 1.2E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
angiopoietin 1 0.446 0.808 0.95
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 285
Gene Symbol: ANGPT2
ANGPT2
angiopoietin 2 0.410 0.846 0.83
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8862
Gene Symbol: APLN
APLN
apelin 0.497 0.769 0.46
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 345
Gene Symbol: APOC3
APOC3
apolipoprotein C3 0.531 0.731 1.0E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1996 1996
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: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7984
Gene Symbol: ARHGEF5
ARHGEF5
Rho guanine nucleotide exchange factor 5 0.526 0.808 7.6E-14
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.020 None 1.000 2 0 2004 2006
Entrez Id: 465
Gene Symbol: ATD
ATD
asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) 0.656 0.731
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1995 1995
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: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2014 2014