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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 728378
Gene Symbol: POTEF
POTEF
POTE ankyrin domain family member F 0.481 0.885 5.5E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 6955
Gene Symbol: TRA
TRA
T cell receptor alpha locus 0.628 0.577
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 64132
Gene Symbol: XYLT2
XYLT2
xylosyltransferase 2 0.566 0.808 0.93
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1989 1989
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: 7528
Gene Symbol: YY1
YY1
YY1 transcription factor 0.481 0.808 0.99
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 28514
Gene Symbol: DLL1
DLL1
delta like canonical Notch ligand 1 0.492 0.808 1.00
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 4684
Gene Symbol: NCAM1
NCAM1
neural cell adhesion molecule 1 0.415 0.885 1.00
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 25870
Gene Symbol: SUMF2
SUMF2
sulfatase modifying factor 2 0.623 0.769 1.0E-08
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 4314
Gene Symbol: MMP3
MMP3
matrix metallopeptidase 3 0.408 0.885 5.7E-15
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 1813
Gene Symbol: DRD2
DRD2
dopamine receptor D2 0.436 0.846 0.75
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 2113
Gene Symbol: ETS1
ETS1
ETS proto-oncogene 1, transcription factor 0.444 0.731 0.78
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 5694
Gene Symbol: PSMB6
PSMB6
proteasome 20S subunit beta 6 0.561 0.731 1.6E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 0.010 None 1.000 1 0 1990 1990
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