chr4:105145875:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:106,067,032-106,200,973 |
| hg38 | chr4:105,145,875-105,279,816 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.008 | Congenital chromosomal disease | A 14-yr-old male was admitted to our hospital with MDS and the chromosomal abnor... | BeFree | 25130056 | Detail |
| 0.008 | Congenital chromosomal disease | Karyotype analysis was performed in 179 patients with AML or MDS with the differ... | BeFree | 26214902 | Detail |
| <0.001 | colitis | Tet2-deficient mice were more susceptible to endotoxin shock and dextran-sulfate... | BeFree | 26287468 | Detail |
| <0.001 | colorectal carcinoma | Genome-wide analyses show that promoters marked by 5hmC in normal tissue, and th... | BeFree | 25853800 | Detail |
| <0.001 | Presenile dementia | NA | BeFree | Detail | |
| <0.001 | dystonia | NA | BeFree | Detail | |
| <0.001 | Eosinophilia | NA | BeFree | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| <0.001 | Focal glomerulosclerosis | NA | BeFree | Detail | |
| <0.001 | Glycogen Storage Disease Type VI | NA | BeFree | Detail | |
| <0.001 | Graft-vs-Host Disease | NA | BeFree | Detail | |
| 0.002 | Hematological Disease | The methylcytosine dioxygenase TET2 is frequently mutated in hematological disor... | BeFree | 25886910 | Detail |
| <0.001 | Hepatic Vein Thrombosis | NA | BeFree | Detail | |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| 0.121 | Angioimmunoblastic Lymphadenopathy | TET2 loss-of-function mutations are highly frequent in subtypes of T-cell lympho... | BeFree,CTD_human | 25501021 | Detail |
| <0.001 | Immune System Diseases | NA | BeFree | Detail | |
| 0.009 | leukemia | RUNX1 translocations and amplifications have been implicated in acute myeloblast... | BeFree,GAD | 24912843 | Detail |
| 0.009 | leukemia | Tet2 mutations are drivers in haematological malignancies but Tet1 had an oncoge... | BeFree,GAD | 25179374 | Detail |
| 0.009 | leukemia | Genetic mutations of TET2 gene were associated with leukaemia, whereas TET1 down... | BeFree,GAD | 25362856 | Detail |
| 0.009 | leukemia | WT1 recruits TET2 to regulate its target gene expression and suppress leukemia c... | BeFree,GAD | 25601757 | Detail |
| 0.009 | leukemia | We conclude that leukemia-associated TET2 mutations affect DNA methylation at NC... | BeFree,GAD | 25972343 | Detail |
| <0.001 | chronic lymphocytic leukemia | TET2 overexpression in chronic lymphocytic leukemia is unrelated to the presence... | BeFree | 24693539 | Detail |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| 0.061 | Leukemia, Myelocytic, Acute | Prognostic significance of Tet methylcytosine dioxygenase 2 (TET2) gene mutation... | BeFree,GAD | 24524305 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | A recent report in Nature now demonstrates that a specific mutation in mouse col... | BeFree,GAD | 24589711 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... | BeFree,GAD | 24845343 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | The total coding region of TET2 was analyzed by direct sequencing in 215 CN-AML ... | BeFree,GAD | 24898826 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | Patients with acute myeloid leukemia (AML) frequently harbor mutations in genes ... | BeFree,GAD | 24986689 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | Although the frequency of evolution from hypocellular MDS to AML is low, our res... | BeFree,GAD | 25180186 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | A significantly decreased TET2 expression was observed in bone marrow cells from... | BeFree,GAD | 25200248 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | DNA hydroxymethylation profiling reveals that WT1 mutations result in loss of TE... | BeFree,GAD | 25482556 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%),... | BeFree,GAD | 25573287 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | Our results also provide an explanation for the mutual exclusivity of WT1 and TE... | BeFree,GAD | 25601757 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | In this issue, Wang et al., 2015 describes that WT1 recruits TET2 to the DNA, an... | BeFree,GAD | 25699704 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | What came first: MDS or AML? | BeFree,GAD | 25721039 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | The methylcytosine dioxygenase TET2 is frequently mutated in hematological disor... | BeFree,GAD | 25886910 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | This TP53 mutation pattern was strikingly similar to that observed in de novo MD... | BeFree,GAD | 25952993 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | In addition, mutations in epigenetic regulators such as DNMT3A, TET2, and ASXL1 ... | BeFree,GAD | 26118500 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | Karyotype analysis was performed in 179 patients with AML or MDS with the differ... | BeFree,GAD | 26214902 | Detail |
| 0.002 | myeloid leukemia | TET2 enzymatically converts 5-methylcytosine to 5-hydroxymethylcytosine as well ... | BeFree | 25972343 | Detail |
| 0.002 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| 0.020 | Leukemia, Myelomonocytic, Chronic | The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... | BeFree,GAD | 24845343 | Detail |
| 0.020 | Leukemia, Myelomonocytic, Chronic | TET2 functions as a bona fide tumor suppressor particularly in the pathogenesis ... | BeFree,GAD | 25510268 | Detail |
| 0.020 | Leukemia, Myelomonocytic, Chronic | TET2 Mutations Affect Non-CpG Island DNA Methylation at Enhancers and Transcript... | BeFree,GAD | 25972343 | Detail |
| 0.001 | acute promyelocytic leukemia | NA | BeFree | Detail | |
| 0.001 | leukopenia | NA | BeFree | Detail | |
| <0.001 | lymphedema | Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... | BeFree | 26214525 | Detail |
| 0.002 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Non-Hodgkin | NA | BeFree | Detail | |
| 0.001 | mastocytosis | Where TET2 and SRSF2-P95 mutation both correlated with advanced disease phenotyp... | BeFree | 24389310 | Detail |
| 0.001 | mastocytosis | Loss of function of TET2 cooperates with constitutively active KIT in murine and... | BeFree | 24788138 | Detail |
| 0.121 | melanoma | Overexpression of Tet2 in melanoma cells re-established the 5hmC landscape and s... | BeFree,GWASCAT | 25179374 | Detail |
| 0.004 | Monosomy | NA | BeFree | Detail | |
| <0.001 | Movement Disorders | The Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDR... | BeFree | 25487881 | Detail |
| 0.001 | multiple myeloma | NA | BeFree | Detail | |
| 0.003 | Myelodysplasia | Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm charact... | BeFree | 24970933 | Detail |
| 0.003 | Myelodysplasia | We used genome-editing technology to disrupt the zebrafish Tet2 catalytic domain... | BeFree | 25512612 | Detail |
| 0.121 | myelofibrosis | NA | BeFree,ORPHANET | Detail | |
| 0.012 | Myeloproliferative disease | In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... | BeFree,GAD | 24845343 | Detail |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | nephroblastoma | NA | BeFree | Detail | |
| 0.128 | polycythemia vera | The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... | BeFree,GAD,ORPHANET | 24845343 | Detail |
| <0.001 | Precancerous Conditions | NA | BeFree | Detail | |
| 0.019 | Preleukemia | Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm charact... | BeFree,GAD | 24970933 | Detail |
| 0.019 | Preleukemia | Ten-eleven-translocation 2 (TET2) is downregulated in myelodysplastic syndromes. | BeFree,GAD | 25200248 | Detail |
| 0.019 | Preleukemia | The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in pat... | BeFree,GAD | 25481243 | Detail |
| 0.019 | Preleukemia | A zebrafish model of myelodysplastic syndrome produced through tet2 genomic edit... | BeFree,GAD | 25512612 | Detail |
| 0.019 | Preleukemia | Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... | BeFree,GAD | 25619630 | Detail |
| 0.019 | Preleukemia | TET2 mutations predict response to hypomethylating agents in myelodysplastic syn... | BeFree,GAD | 25697572 | Detail |
| 0.019 | Preleukemia | Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... | BeFree,GAD | 26214525 | Detail |
| 0.120 | Prostatic Neoplasms | NA | CTD_human | Detail | |
| 0.120 | Sezary syndrome | NA | CTD_human | Detail | |
| 0.127 | Thrombocythemia, Essential | The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... | BeFree,GAD,ORPHANET | 24845343 | Detail |
| <0.001 | thymoma | Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n =... | BeFree | 25482724 | Detail |
| 0.002 | Chromosomal translocation | NA | GAD | Detail | |
| <0.001 | Trisomy | NA | BeFree | Detail | |
| <0.001 | urticaria pigmentosa | Loss of function of TET2 cooperates with constitutively active KIT in murine and... | BeFree | 24788138 | Detail |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| <0.001 | diffuse large B-cell lymphoma | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Large-Cell, Follicular | NA | BeFree | Detail | |
| <0.001 | T-Cell Lymphoma | Reduced TET2 function leads to T-cell lymphoma with follicular helper T-cell-lik... | BeFree | 25501021 | Detail |
| 0.121 | peripheral T-cell lymphoma | TET2 loss-of-function mutations are highly frequent in subtypes of T-cell lympho... | BeFree,CTD_human | 25501021 | Detail |
| <0.001 | Liver failure | NA | BeFree | Detail | |
| 0.003 | acute leukemia | NA | BeFree | Detail | |
| 0.001 | Monocytosis | Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm charact... | BeFree | 24970933 | Detail |
| <0.001 | Tumor Progression | Overexpression of Tet2 in melanoma cells re-established the 5hmC landscape and s... | BeFree | 25179374 | Detail |
| <0.001 | thymic carcinoma | Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n =... | BeFree | 25482724 | Detail |
| <0.001 | Adult Acute Myeloblastic Leukemia | NA | BeFree | Detail | |
| <0.001 | pediatric acute myeloblastic leukemia | NA | BeFree | Detail | |
| 0.005 | Mastocytosis, Systemic | We exploit these findings to validate a combination treatment strategy targeting... | BeFree,GAD | 24788138 | Detail |
| 0.005 | Mastocytosis, Systemic | All patients with (A)SM-AHNMD (n=12) carried 1-4 (median 3) additional mutations... | BeFree,GAD | 25567135 | Detail |
| <0.001 | secondary myelofibrosis | Among them, five patients (two PV, two MPN-U, and one MDS/MPN-U) progressed to M... | BeFree | 24845343 | Detail |
| <0.001 | Neoplasm, Residual | NA | BeFree | Detail | |
| 0.002 | Miller Dieker syndrome | NA | BeFree | Detail | |
| <0.001 | Renal glomerular disease | NA | BeFree | Detail | |
| <0.001 | Acquired aplastic anemia | NA | BeFree | Detail | |
| <0.001 | Philadelphia chromosome positive chronic myelogenous leukemia | Few patients in remission of Ph-positive chronic myelogenous leukemia (CML) deve... | BeFree | 25631405 | Detail |
| <0.001 | Refractory anemia with excess blasts in transformation (clinical) | NA | BeFree | Detail | |
| <0.001 | Solid tumour | NA | BeFree | Detail | |
| 0.002 | secondary acute myeloid leukemia | NA | BeFree | Detail | |
| <0.001 | de novo myelodysplastic syndromes | NA | BeFree | Detail | |
| <0.001 | anaplastic astrocytoma | NA | BeFree | Detail | |
| 0.002 | juvenile myelomonocytic leukemia | NA | BeFree | Detail | |
| <0.001 | prediabetes syndrome | NA | BeFree | Detail | |
| 0.005 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| <0.001 | Hematopoietic Neoplasms | TET2 is involved in a variety of hematopoietic malignancies, mainly in myeloid m... | BeFree | 24693539 | Detail |
| 0.003 | Hematologic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Dystonia Disorders | NA | BeFree | Detail | |
| <0.001 | Overlap syndrome | NA | BeFree | Detail | |
| 0.003 | Chromosome 8, trisomy | The aim of our study was 1) to define if the amplification of c-MYC, MLL and RUN... | BeFree | 26214902 | Detail |
| <0.001 | Enteropathy-Associated T-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | endometrial carcinoma | NA | BeFree | Detail | |
| <0.001 | dementia | NA | BeFree | Detail | |
| <0.001 | Severe depression | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | The TET2 DNA dioxygenase regulates cell identity and suppresses tumorigenesis by... | BeFree | 25601757 | Detail |
| 0.002 | Leukemogenesis | Loss of TET2 in hematopoietic cells leads to DNA hypermethylation of active enha... | BeFree | 25886910 | Detail |
| <0.001 | Lymphoid neoplasm | Most mutations of TET2 have been identified in myeloid disorders, but some have ... | BeFree | 24693539 | Detail |
| 0.020 | Leukemia, Myelomonocytic, Chronic | TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (... | BeFree | 19474426 | Detail |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | thrombocytosis | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... | BeFree | 21350094 | Detail |
| 0.002 | juvenile myelomonocytic leukemia | Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or ... | BeFree | 20955399 | Detail |
| <0.001 | Epithelial ovarian cancer | Prognostic values of 5-hmC, 5-mC and TET2 in epithelial ovarian cancer. | BeFree | 25827305 | Detail |
| 0.002 | secondary acute myeloid leukemia | TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (... | BeFree | 19474426 | Detail |
| 0.008 | Primary myelofibrosis | We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... | BeFree | 21904853 | Detail |
| 0.061 | Leukemia, Myelocytic, Acute | Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... | BeFree | 22571758 | Detail |
| 0.002 | Myeloid Leukemia, Chronic | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... | BeFree | 23846442 | Detail |
| 0.002 | breast carcinoma | Genetic mutations of TET2 gene were associated with leukaemia, whereas TET1 down... | BeFree | 25362856 | Detail |
| 0.002 | breast carcinoma | The efficacy of the software is verified through MDS and clustering and tested w... | BeFree | 25905921 | Detail |
| 0.128 | polycythemia vera | We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... | BeFree | 21904853 | Detail |
| 0.012 | Myeloproliferative disease | TET2 defects were present in hematopoietic stem cells and preceded the JAK2 V617... | BeFree | 19474426 | Detail |
| <0.001 | Glycogen Storage Disease Type VI | In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different... | BeFree | 19564637 | Detail |
| 0.001 | 5q-syndrome | NA | BeFree | Detail | |
| <0.001 | Refractory cytopenia with multilineage dysplasia | TET2 expression level and 5-hydroxymethylcytosine are decreased in refractory cy... | BeFree | 26277372 | Detail |
| <0.001 | thrombocytosis | NA | BeFree | Detail | |
| <0.001 | Leukemia secondary | NA | BeFree | Detail | |
| <0.001 | Budd-Chiari syndrome | NA | BeFree | Detail | |
| 0.001 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... | BeFree | 24845343 | Detail |
| 0.001 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | According to the 2008 WHO classification, the category of myelodysplastic/myelop... | BeFree | 25212680 | Detail |
| 0.120 | Acute myeloid leukemia with multilineage dysplasia | NA | ORPHANET | Detail | |
| 0.002 | Chronic myeloproliferative disorder | In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... | BeFree | 24845343 | Detail |
| 0.001 | Myelodysplastic Syndrome with Isolated del(5q) | NA | BeFree | Detail | |
| 0.001 | Therapy-related myelodysplastic syndrome | TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%),... | BeFree | 25573287 | Detail |
| 0.004 | Myelodysplastic-Myeloproliferative Diseases | Myeloproliferative neoplasms (MPN) and myelodysplastic/myeloproliferative neopla... | BeFree | 24845343 | Detail |
| 0.004 | Myelodysplastic-Myeloproliferative Diseases | According to the 2008 WHO classification, the category of myelodysplastic/myelop... | BeFree | 25212680 | Detail |
| <0.001 | blastic plasmacytoid dendritic cell neoplasm | NA | BeFree | Detail | |
| <0.001 | Eosinophilic disorder | NA | BeFree | Detail | |
| <0.001 | Refractory anemia with excess blasts I | In MDS, TET2 expression was significantly reduced in RAEB-1/RAEB-2 compared to o... | BeFree | 25200248 | Detail |
| <0.001 | Refractory anemia with excess blasts II | NA | BeFree | Detail | |
| <0.001 | Thymoma, type C | Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n =... | BeFree | 25482724 | Detail |
| <0.001 | Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome | NA | BeFree | Detail | |
| <0.001 | Chronic Myelomonocytic Leukemia-1 | NA | BeFree | Detail | |
| 0.001 | Treatment related acute myeloid leukaemia | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | Genome-wide analyses show that promoters marked by 5hmC in normal tissue, and th... | BeFree | 25853800 | Detail |
| <0.001 | Disorder characterized by eosinophilia | NA | BeFree | Detail | |
| <0.001 | Milroy Disease | Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... | BeFree | 25619630 | Detail |
| 0.001 | Chromosome 5, trisomy 5q | NA | BeFree | Detail | |
| <0.001 | MYELOID TUMOR SUPPRESSOR | NA | BeFree | Detail | |
| <0.001 | campomelic dysplasia | NA | BeFree | Detail | |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| 0.003 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree,GAD | Detail | |
| <0.001 | Extramedullary Hematopoiesis (disorder) | NA | BeFree | Detail | |
| <0.001 | Refractory cytopenia of childhood | TET2 expression level and 5-hydroxymethylcytosine are decreased in refractory cy... | BeFree | 26277372 | Detail |
| <0.001 | Refractory anemia with ring sideroblasts associated with marked thrombocytosis | NA | BeFree | Detail | |
| 0.002 | myeloid neoplasm | TET2 is involved in a variety of hematopoietic malignancies, mainly in myeloid m... | BeFree | 24693539 | Detail |
| 0.002 | myeloid neoplasm | Mutations of the Ten-Eleven-Translocation 2 (TET2) gene have been identified in ... | BeFree | 24898826 | Detail |
| 0.002 | myeloid neoplasm | Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm charact... | BeFree | 24970933 | Detail |
| 0.002 | myeloid neoplasm | TET2 loss-of-function mutations are highly frequent in subtypes of T-cell lympho... | BeFree | 25501021 | Detail |
| 0.002 | myeloid neoplasm | TET2 functions as a bona fide tumor suppressor particularly in the pathogenesis ... | BeFree | 25510268 | Detail |
| 0.002 | myeloid neoplasm | Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... | BeFree | 25619630 | Detail |
| 0.001 | Refractory anemia, without ringed sideroblasts, without excess blasts | NA | BeFree | Detail | |
| <0.001 | Emberger syndrome | Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... | BeFree | 25619630 | Detail |
| 0.144 | myelodysplastic syndrome | Ten-eleven-translocation 2 (TET2) is downregulated in myelodysplastic syndromes. | BeFree,CTD_human,GAD | 25200248 | Detail |
| 0.144 | myelodysplastic syndrome | The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in pat... | BeFree,CTD_human,GAD | 25481243 | Detail |
| 0.144 | myelodysplastic syndrome | A zebrafish model of myelodysplastic syndrome produced through tet2 genomic edit... | BeFree,CTD_human,GAD | 25512612 | Detail |
| 0.144 | myelodysplastic syndrome | Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... | BeFree,CTD_human,GAD | 25619630 | Detail |
| 0.144 | myelodysplastic syndrome | TET2 mutations predict response to hypomethylating agents in myelodysplastic syn... | BeFree,CTD_human,GAD | 25697572 | Detail |
| 0.144 | myelodysplastic syndrome | Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... | BeFree,CTD_human,GAD | 26214525 | Detail |
| <0.001 | Cytogenetically normal acute myeloid leukemia | TET2 gene mutation is unfavorable prognostic factor in cytogenetically normal ac... | BeFree | 24859829 | Detail |
| <0.001 | Cytogenetically normal acute myeloid leukemia | TET2 mutations in cytogenetically normal acute myeloid leukemia: clinical implic... | BeFree | 24898826 | Detail |
| 0.008 | Primary myelofibrosis | NA | BeFree,GAD | Detail | |
| 0.002 | Alcoholic Intoxication, Chronic | NA | GAD | Detail | |
| 0.002 | anemia | We used genome-editing technology to disrupt the zebrafish Tet2 catalytic domain... | BeFree | 25512612 | Detail |
| 0.001 | aplastic anemia | NA | BeFree | Detail | |
| 0.121 | Refractory anemias | NA | BeFree,ORPHANET | Detail | |
| 0.124 | Refractory anaemia with excess blasts | NA | BeFree,ORPHANET | Detail | |
| <0.001 | Autoimmune Diseases | Consequently, Tet1 and Tet2 deletion led to Foxp3 hypermethylation, impaired Tre... | BeFree | 26275994 | Detail |
| 0.003 | Blast Phase | NA | BeFree,GAD | Detail | |
| 0.122 | Malignant neoplasm of breast | Genetic mutations of TET2 gene were associated with leukaemia, whereas TET1 down... | BeFree,GWASCAT | 25362856 | Detail |
| 0.122 | Malignant neoplasm of breast | The efficacy of the software is verified through MDS and clustering and tested w... | BeFree,GWASCAT | 25905921 | Detail |
| <0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail | |
| 0.121 | renal cell carcinoma | One out of 19 pediatric patients with RCC was a carrier of a TET2 mutation. | BeFree,CTD_human | 26277372 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A 14-yr-old male was admitted to our hospital with MDS and the chromosomal abnormality 45,XY,der(5;1... | DisGeNET | Detail |
| Karyotype analysis was performed in 179 patients with AML or MDS with the different chromosomal aber... | DisGeNET | Detail |
| Tet2-deficient mice were more susceptible to endotoxin shock and dextran-sulfate-sodium-induced coli... | DisGeNET | Detail |
| Genome-wide analyses show that promoters marked by 5hmC in normal tissue, and those identified as TE... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The methylcytosine dioxygenase TET2 is frequently mutated in hematological disorders, including acut... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TET2 loss-of-function mutations are highly frequent in subtypes of T-cell lymphoma that harbor folli... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| RUNX1 translocations and amplifications have been implicated in acute myeloblastic leukemia, acute l... | DisGeNET | Detail |
| Tet2 mutations are drivers in haematological malignancies but Tet1 had an oncogenic role in MLL-rear... | DisGeNET | Detail |
| Genetic mutations of TET2 gene were associated with leukaemia, whereas TET1 downregulation has been ... | DisGeNET | Detail |
| WT1 recruits TET2 to regulate its target gene expression and suppress leukemia cell proliferation. | DisGeNET | Detail |
| We conclude that leukemia-associated TET2 mutations affect DNA methylation at NCGI regions containin... | DisGeNET | Detail |
| TET2 overexpression in chronic lymphocytic leukemia is unrelated to the presence of TET2 variations. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Prognostic significance of Tet methylcytosine dioxygenase 2 (TET2) gene mutations in adult patients ... | DisGeNET | Detail |
| A recent report in Nature now demonstrates that a specific mutation in mouse collagen-expressing ost... | DisGeNET | Detail |
| In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles decreased according to... | DisGeNET | Detail |
| The total coding region of TET2 was analyzed by direct sequencing in 215 CN-AML patients younger tha... | DisGeNET | Detail |
| Patients with acute myeloid leukemia (AML) frequently harbor mutations in genes involved in the DNA ... | DisGeNET | Detail |
| Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that so... | DisGeNET | Detail |
| A significantly decreased TET2 expression was observed in bone marrow cells from AML (n = 53) and pa... | DisGeNET | Detail |
| DNA hydroxymethylation profiling reveals that WT1 mutations result in loss of TET2 function in acute... | DisGeNET | Detail |
| TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%), significantly highe... | DisGeNET | Detail |
| Our results also provide an explanation for the mutual exclusivity of WT1 and TET2 mutations in AML,... | DisGeNET | Detail |
| In this issue, Wang et al., 2015 describes that WT1 recruits TET2 to the DNA, an important feature o... | DisGeNET | Detail |
| What came first: MDS or AML? | DisGeNET | Detail |
| The methylcytosine dioxygenase TET2 is frequently mutated in hematological disorders, including acut... | DisGeNET | Detail |
| This TP53 mutation pattern was strikingly similar to that observed in de novo MDS/AML. | DisGeNET | Detail |
| In addition, mutations in epigenetic regulators such as DNMT3A, TET2, and ASXL1 have recently been f... | DisGeNET | Detail |
| Karyotype analysis was performed in 179 patients with AML or MDS with the different chromosomal aber... | DisGeNET | Detail |
| TET2 enzymatically converts 5-methylcytosine to 5-hydroxymethylcytosine as well as other covalently ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... | DisGeNET | Detail |
| TET2 functions as a bona fide tumor suppressor particularly in the pathogenesis of myeloid malignanc... | DisGeNET | Detail |
| TET2 Mutations Affect Non-CpG Island DNA Methylation at Enhancers and Transcription Factor-Binding S... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been sho... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Where TET2 and SRSF2-P95 mutation both correlated with advanced disease phenotypes, SRSF2-P95 hotspo... | DisGeNET | Detail |
| Loss of function of TET2 cooperates with constitutively active KIT in murine and human models of mas... | DisGeNET | Detail |
| Overexpression of Tet2 in melanoma cells re-established the 5hmC landscape and suppressed cancer pro... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), the Hoehn and Ya... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm characterized by myelodyspl... | DisGeNET | Detail |
| We used genome-editing technology to disrupt the zebrafish Tet2 catalytic domain. tet2(m/m) (homozyg... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles decreased according to... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm characterized by myelodyspl... | DisGeNET | Detail |
| Ten-eleven-translocation 2 (TET2) is downregulated in myelodysplastic syndromes. | DisGeNET | Detail |
| The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in patients with Myelodysp... | DisGeNET | Detail |
| A zebrafish model of myelodysplastic syndrome produced through tet2 genomic editing. | DisGeNET | Detail |
| Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... | DisGeNET | Detail |
| TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients.Blood... | DisGeNET | Detail |
| Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been sho... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... | DisGeNET | Detail |
| Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Loss of function of TET2 cooperates with constitutively active KIT in murine and human models of mas... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Reduced TET2 function leads to T-cell lymphoma with follicular helper T-cell-like features in mice. | DisGeNET | Detail |
| TET2 loss-of-function mutations are highly frequent in subtypes of T-cell lymphoma that harbor folli... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm characterized by myelodyspl... | DisGeNET | Detail |
| Overexpression of Tet2 in melanoma cells re-established the 5hmC landscape and suppressed cancer pro... | DisGeNET | Detail |
| Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We exploit these findings to validate a combination treatment strategy targeting the epigenetic dere... | DisGeNET | Detail |
| All patients with (A)SM-AHNMD (n=12) carried 1-4 (median 3) additional mutations in 11 genes tested,... | DisGeNET | Detail |
| Among them, five patients (two PV, two MPN-U, and one MDS/MPN-U) progressed to MF and three patients... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Few patients in remission of Ph-positive chronic myelogenous leukemia (CML) develop Ph-negative MDS/... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TET2 is involved in a variety of hematopoietic malignancies, mainly in myeloid malignancies. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aim of our study was 1) to define if the amplification of c-MYC, MLL and RUNX1 genes is related ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The TET2 DNA dioxygenase regulates cell identity and suppresses tumorigenesis by modulating DNA meth... | DisGeNET | Detail |
| Loss of TET2 in hematopoietic cells leads to DNA hypermethylation of active enhancers and induction ... | DisGeNET | Detail |
| Most mutations of TET2 have been identified in myeloid disorders, but some have also recently been d... | DisGeNET | Detail |
| TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 p... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... | DisGeNET | Detail |
| Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or myeloproliferative s... | DisGeNET | Detail |
| Prognostic values of 5-hmC, 5-mC and TET2 in epithelial ovarian cancer. | DisGeNET | Detail |
| TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 p... | DisGeNET | Detail |
| We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... | DisGeNET | Detail |
| Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... | DisGeNET | Detail |
| Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... | DisGeNET | Detail |
| Genetic mutations of TET2 gene were associated with leukaemia, whereas TET1 downregulation has been ... | DisGeNET | Detail |
| The efficacy of the software is verified through MDS and clustering and tested with available 11 fam... | DisGeNET | Detail |
| We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... | DisGeNET | Detail |
| TET2 defects were present in hematopoietic stem cells and preceded the JAK2 V617F mutation in the fi... | DisGeNET | Detail |
| In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different phases of her disea... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TET2 expression level and 5-hydroxymethylcytosine are decreased in refractory cytopenia of childhood... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... | DisGeNET | Detail |
| According to the 2008 WHO classification, the category of myelodysplastic/myeloproliferative neoplas... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles decreased according to... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%), significantly highe... | DisGeNET | Detail |
| Myeloproliferative neoplasms (MPN) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN) may tr... | DisGeNET | Detail |
| According to the 2008 WHO classification, the category of myelodysplastic/myeloproliferative neoplas... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In MDS, TET2 expression was significantly reduced in RAEB-1/RAEB-2 compared to other WHO 2008 classi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Genome-wide analyses show that promoters marked by 5hmC in normal tissue, and those identified as TE... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TET2 expression level and 5-hydroxymethylcytosine are decreased in refractory cytopenia of childhood... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TET2 is involved in a variety of hematopoietic malignancies, mainly in myeloid malignancies. | DisGeNET | Detail |
| Mutations of the Ten-Eleven-Translocation 2 (TET2) gene have been identified in patients with variou... | DisGeNET | Detail |
| Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm characterized by myelodyspl... | DisGeNET | Detail |
| TET2 loss-of-function mutations are highly frequent in subtypes of T-cell lymphoma that harbor folli... | DisGeNET | Detail |
| TET2 functions as a bona fide tumor suppressor particularly in the pathogenesis of myeloid malignanc... | DisGeNET | Detail |
| Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... | DisGeNET | Detail |
| Ten-eleven-translocation 2 (TET2) is downregulated in myelodysplastic syndromes. | DisGeNET | Detail |
| The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in patients with Myelodysp... | DisGeNET | Detail |
| A zebrafish model of myelodysplastic syndrome produced through tet2 genomic editing. | DisGeNET | Detail |
| Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... | DisGeNET | Detail |
| TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients.Blood... | DisGeNET | Detail |
| Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been sho... | DisGeNET | Detail |
| TET2 gene mutation is unfavorable prognostic factor in cytogenetically normal acute myeloid leukemia... | DisGeNET | Detail |
| TET2 mutations in cytogenetically normal acute myeloid leukemia: clinical implications and evolution... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We used genome-editing technology to disrupt the zebrafish Tet2 catalytic domain. tet2(m/m) (homozyg... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Consequently, Tet1 and Tet2 deletion led to Foxp3 hypermethylation, impaired Treg cell differentiati... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Genetic mutations of TET2 gene were associated with leukaemia, whereas TET1 downregulation has been ... | DisGeNET | Detail |
| The efficacy of the software is verified through MDS and clustering and tested with available 11 fam... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| One out of 19 pediatric patients with RCC was a carrier of a TET2 mutation. | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386626619 dbSNP
- Genome
- hg38
- Position
- chr4:105,145,875-105,279,816
- Variant Type
- snv
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