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: 5698
Gene Symbol: PSMB9
PSMB9
proteasome 20S subunit beta 9 0.514 0.808 2.7E-03
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
recombination activating 2 0.507 0.769 2.0E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1992 1992
Entrez Id: 5923
Gene Symbol: RASGRF1
RASGRF1
Ras protein specific guanine nucleotide releasing factor 1 0.537 0.769 1.00
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2008 2008
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: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1991 1991
Entrez Id: 5976
Gene Symbol: UPF1
UPF1
UPF1 RNA helicase and ATPase 0.663 0.615 1.00
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5997
Gene Symbol: RGS2
RGS2
regulator of G protein signaling 2 0.561 0.769 5.7E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
recombination activating 1 0.509 0.769 2.8E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1992 1992
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 5700
Gene Symbol: PSMC1
PSMC1
proteasome 26S subunit, ATPase 1 0.780 0.462 1.00
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 5726
Gene Symbol: TAS2R38
TAS2R38
taste 2 receptor member 38 0.531 0.808 0.13
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5742
Gene Symbol: PTGS1
PTGS1
prostaglandin-endoperoxide synthase 1 0.460 0.885 6.2E-07
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 581
Gene Symbol: BAX
BAX
BCL2 associated X, apoptosis regulator 0.417 0.885 0.32
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 5861
Gene Symbol: RAB1A
RAB1A
RAB1A, member RAS oncogene family 0.623 0.615 0.82
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 638
Gene Symbol: BIK
BIK
BCL2 interacting killer 0.653 0.462 5.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 63967
Gene Symbol: CLSPN
CLSPN
claspin 0.743 0.423 2.6E-03
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2012 2012
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: 6638
Gene Symbol: SNRPN
SNRPN
small nuclear ribonucleoprotein polypeptide N 0.538 0.731 4.3E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 6646
Gene Symbol: SOAT1
SOAT1
sterol O-acyltransferase 1 0.424 0.846 7.4E-10
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1994 1994