Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.800 SomaticCausalMutation ORPHANET A microRNA/TP53 feedback circuitry is associated with CLL pathogenesis and outcome. 21205967

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.800 SomaticCausalMutation ORPHANET Recurrent losses or gains of genomic material as well as mutations of key tumor suppressors (ATM and TP53) have been identified in chronic lymphocytic leukemia (CLL). 21435757

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.800 SomaticCausalMutation ORPHANET Our findings add a new aspect to the mosaic of the p53 mutability in B-CLL. 17920683

2008

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.800 Biomarker CTD_human The induction of p53 by nutlin-3 in B-CLL samples was accompanied by alterations of the mitochondrial potential and activation of the caspase-dependent apoptotic pathway. 16439677

2006

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.800 SomaticCausalMutation ORPHANET Translocations or isochromosome formations at sites of low-copy DNA repeats in 17p10 to 17p12 appear to be the mechanism for the loss of TP53 in B-CLL. 16737921

2006

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.800 SomaticCausalMutation ORPHANET New translocations in a case of atypical B-cell chronic lymphocytic leukemia: involvement of ATM, MLL, and TP53 genes. 16938579

2006

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.800 CausalMutation CGI

Entrez Id: 5336
Gene Symbol: PLCG2
PLCG2
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.700 Biomarker CTD_human We suggest that R665W and L845F be referred to as allomorphic rather than hypermorphic mutations of PLCG2 Rerouting of the transmembrane signals emanating from BCR and converging on PLCγ<sub>2</sub> through Rac in ibrutinib-resistant CLL cells may provide novel drug treatment strategies to overcome ibrutinib resistance mediated by PLCG2 mutations or to prevent its development in ibrutinib-treated CLL patients. 27542411

2016

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.700 Biomarker CTD_human CLL with 11q deletion can be divided into two subgroups based on the integrity of the residual ATM allele. 17968022

2007

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.700 SomaticCausalMutation ORPHANET In five B-CLLs and one MCL with deletion of one ATM allele, a point mutation in the remaining allele was detected, which resulted in aberrant transcript splicing, alteration, or truncation of the protein. 10397742

1999

Entrez Id: 5336
Gene Symbol: PLCG2
PLCG2
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.700 CausalMutation CGI

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.700 GeneticVariation UNIPROT

Entrez Id: 25913
Gene Symbol: POT1
POT1
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.640 SomaticCausalMutation ORPHANET The identification of POT1 as a new frequently mutated gene in CLL may facilitate novel approaches for the clinical management of this disease. 23502782

2013

Entrez Id: 25913
Gene Symbol: POT1
POT1
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.640 CausalMutation CGI

Entrez Id: 28444
Gene Symbol: IGHV3-21
IGHV3-21
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.600 Biomarker ORPHANET Clinically, co-occurrence of SF3B1 mutations and subset 2 BCR configuration prompts disease progression in IGHV3-21-CLL, whereas cooperation between NOTCH1 mutations, +12, and subset 8 BCR configuration invariably primes CLL transformation into Richter syndrome. 23637131

2013

Entrez Id: 28444
Gene Symbol: IGHV3-21
IGHV3-21
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.600 Biomarker ORPHANET To investigate the IGHV3-21 frequency and the clinical impact of IGHV3-21 stereotypy, 337 newly diagnosed Swedish CLL patients from a population-based cohort were analyzed. 22464020

2012

Entrez Id: 28444
Gene Symbol: IGHV3-21
IGHV3-21
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.600 Biomarker ORPHANET T-cell independent, B-cell receptor-mediated induction of telomerase activity differs among IGHV mutation-based subgroups of chronic lymphocytic leukemia patients. 22875913

2012

Entrez Id: 28444
Gene Symbol: IGHV3-21
IGHV3-21
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.600 Biomarker ORPHANET IGHV unmutated CLL B cells are more prone to spontaneous apoptosis and subject to environmental prosurvival signals than mutated CLL B cells. 21372840

2011

Entrez Id: 28444
Gene Symbol: IGHV3-21
IGHV3-21
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.600 Biomarker CTD_human Distinctive gene expression pattern in VH3-21 utilizing B-cell chronic lymphocytic leukemia. 15817677

2005

Entrez Id: 5027
Gene Symbol: P2RX7
P2RX7
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.590 Biomarker ORPHANET We investigated tumour DNA in 170 patients with CLL using PCR-RFLP analysis with HhaI restriction enzyme cleavage to screen for the polymorphism in the P2X7 receptor gene. 12493261

2002

Entrez Id: 5027
Gene Symbol: P2RX7
P2RX7
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.590 Biomarker CTD_human Expression of P2X(7) purinoceptors on human lymphocytes and monocytes: evidence for nonfunctional P2X(7) receptors. 11003599

2000

Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.500 Biomarker CTD_human Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. 23770605

2013

Entrez Id: 51176
Gene Symbol: LEF1
LEF1
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.500 Biomarker CTD_human Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. 23770605

2013

Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.500 Biomarker CTD_human Further analysis in 279 individuals with CLL showed that SF3B1 mutations were associated with faster disease progression and poor overall survival. 22158541

2011

Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.500 Biomarker CTD_human Resistance to therapy in CLL depends on the expression and activity of anti-apoptotic proteins of the Bcl-2 family. 21750559

2011