Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GeneticVariation CLINVAR Comparative Study of the Treatment of Tuberculous Cervical Lymphadenitis with Special Reference of Streptomycin, P.A.S. and Isonicotinic Acid Hydrazide. 29015585

1953

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.100 GeneticVariation CLINVAR Comparative Study of the Treatment of Tuberculous Cervical Lymphadenitis with Special Reference of Streptomycin, P.A.S. and Isonicotinic Acid Hydrazide. 29015585

1953

Entrez Id: 174
Gene Symbol: AFP
AFP
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.100 AlteredExpression BEFREE A case of a young white female with AT who developed hepatocellular carcinoma along with significantly elevated levels of alpha fetoprotein is presented. 92892

1980

Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.020 AlteredExpression BEFREE DNA repair enzyme deficiency and in vitro complementation of the enzyme activity in cell-free extracts from ataxia telangiectasia fibroblasts. 6266484

1981

Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 GeneticVariation BEFREE In a patient affected by ataxia telangiectasia (AT), an invading clone with a t(14;14) was found in PHA-, but not in pokeweed-stimulated, lymphocytes. 6862436

1983

Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.020 AlteredExpression BEFREE Regulation of the cellular actin levels in response to changes in the cell density in ataxia telangiectasia lymphoblastoid cells. 6324767

1984

Entrez Id: 174
Gene Symbol: AFP
AFP
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.100 AlteredExpression BEFREE In spite of many resemblances, this syndrome differs from classical or complete ataxia telangiectasia in that oculocutaneous telangiectases were lacking, the serum IgA and alpha-fetoprotein levels in this family were normal, there was no gonadal dysgenesis, and the cytogenetic findings were atypical. 6597863

1985

Entrez Id: 174
Gene Symbol: AFP
AFP
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.100 AlteredExpression BEFREE A fetus 'at-risk' for ataxia telangiectasia (A-T) was monitored prenatally by several approaches which, in concert, might yield information of diagnostic value: measurement of amniotic fluid AFP levels; the clastogenic potential of 'at-risk' amniotic fluid; and cytogenic evaluation of fetal amniocytes. 2579376

1985

Entrez Id: 847
Gene Symbol: CAT
CAT
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.020 AlteredExpression BEFREE Furthermore, simian virus 40 transformation of normal and radiosensitive cells (XP, ataxia telangiectasia) provokes a decrease in catalase activity of about 80% compared to the control derivatives. 3000576

1986

Entrez Id: 3005
Gene Symbol: H1-0
H1-0
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.020 AlteredExpression BEFREE Cloned genomic DNA for human histone H1, H3 and H4 genes has been used to determine the effects of gamma-radiation on histone mRNA levels and synthesis in ataxia-telangiectasia cells. 3807898

1987

Entrez Id: 1719
Gene Symbol: DHFR
DHFR
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.020 Biomarker BEFREE DHFR gene amplification in cultured skin fibroblasts of ataxia telangiectasia patients after methotrexate selection. 2824082

1987

Entrez Id: 2539
Gene Symbol: G6PD
G6PD
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 Biomarker BEFREE A case of ataxia telangiectasia with unbalanced glucose 6-phosphate dehydrogenase mosaicism in the granulocytic/monocytic lineages. 3812485

1987

Entrez Id: 3492
Gene Symbol: IGH
IGH
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.030 GeneticVariation BEFREE We have previously shown that the cytogenetic breakpoints of one t(14;14)(q11;q32) chromosome and two inv(14)(q11;q32) chromosomes in T-cell tumors from AT and non-AT patients join the T-cell receptor alpha chain locus, at chromosome band 14q11, with a region(s) at 14q32 centromeric of the immunoglobulin heavy chain variable region (VH) gene IGHV. 3194418

1988

Entrez Id: 102723407
Gene Symbol: LOC102723407
LOC102723407
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 GeneticVariation BEFREE We have previously shown that the cytogenetic breakpoints of one t(14;14)(q11;q32) chromosome and two inv(14)(q11;q32) chromosomes in T-cell tumors from AT and non-AT patients join the T-cell receptor alpha chain locus, at chromosome band 14q11, with a region(s) at 14q32 centromeric of the immunoglobulin heavy chain variable region (VH) gene IGHV. 3194418

1988

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 GeneticVariation BEFREE We have previously shown that the cytogenetic breakpoints of one t(14;14)(q11;q32) chromosome and two inv(14)(q11;q32) chromosomes in T-cell tumors from AT and non-AT patients join the T-cell receptor alpha chain locus, at chromosome band 14q11, with a region(s) at 14q32 centromeric of the immunoglobulin heavy chain variable region (VH) gene IGHV. 3194418

1988

Entrez Id: 9709
Gene Symbol: HERPUD1
HERPUD1
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 Biomarker BEFREE We compared inversions of chromosome 14 in an ataxia telangiectasia clone and in a malignant T cell line (SUP-T1). 3258841

1988

Entrez Id: 102724971
Gene Symbol: LOC102724971
LOC102724971
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 GeneticVariation BEFREE We have previously shown that the cytogenetic breakpoints of one t(14;14)(q11;q32) chromosome and two inv(14)(q11;q32) chromosomes in T-cell tumors from AT and non-AT patients join the T-cell receptor alpha chain locus, at chromosome band 14q11, with a region(s) at 14q32 centromeric of the immunoglobulin heavy chain variable region (VH) gene IGHV. 3194418

1988

Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 Biomarker BEFREE We compared inversions of chromosome 14 in an ataxia telangiectasia clone and in a malignant T cell line (SUP-T1). 3258841

1988

Entrez Id: 28402
Gene Symbol: IGHV3-69-1
IGHV3-69-1
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 GeneticVariation BEFREE We have previously shown that the cytogenetic breakpoints of one t(14;14)(q11;q32) chromosome and two inv(14)(q11;q32) chromosomes in T-cell tumors from AT and non-AT patients join the T-cell receptor alpha chain locus, at chromosome band 14q11, with a region(s) at 14q32 centromeric of the immunoglobulin heavy chain variable region (VH) gene IGHV. 3194418

1988

Entrez Id: 2217
Gene Symbol: FCGRT
FCGRT
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 Biomarker BEFREE Molecular characterization of different ataxia telangiectasia T-cell clones. I. A common breakpoint at the 14q11.2 band splits the T-cell receptor alpha-chain gene. 3422210

1988

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 CausalMutation CLINVAR "Comments on: ""Two Routes for Renal 99mTc-DMSA Uptake into the Renal Cortical Tubular Cell""." 2557216

1989

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 CausalMutation CLINVAR ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. 2491181

1989

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.100 CausalMutation CLINVAR "Comments on: ""Two Routes for Renal 99mTc-DMSA Uptake into the Renal Cortical Tubular Cell""." 2557216

1989

Entrez Id: 174
Gene Symbol: AFP
AFP
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.100 Biomarker BEFREE Four strains demonstrated RDS that was less pronounced than in most AT cells: one was from a patient with Nijmegen breakage syndrome, one was from a patient without ataxia but with choreiform movement disorder, telangiectasia, and elevated concentrations of alpha-fetoprotein in the blood, and two were from AT patients. 2722185

1989