chr17:1247569:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:1,247,569-1,303,516 |
| hg38 | chr17:1,344,275-1,400,222 |
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 | At the molecular level, these tumours may demonstrate a relatively simple karyot... | BeFree | 25595274 | 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 | 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 | Graft-vs-Host Disease | NA | BeFree | Detail | |
| 0.001 | Hematological Disease | NA | BeFree | Detail | |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | Immune System Diseases | NA | BeFree | Detail | |
| 0.004 | leukemia | RUNX1 translocations and amplifications have been implicated in acute myeloblast... | BeFree | 24912843 | Detail |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| 0.039 | Leukemia, Myelocytic, Acute | A recent report in Nature now demonstrates that a specific mutation in mouse col... | BeFree | 24589711 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... | BeFree | 24845343 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | Although the frequency of evolution from hypocellular MDS to AML is low, our res... | BeFree | 25180186 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%),... | BeFree | 25573287 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | What came first: MDS or AML? | BeFree | 25721039 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | This TP53 mutation pattern was strikingly similar to that observed in de novo MD... | BeFree | 25952993 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | Karyotype analysis was performed in 179 patients with AML or MDS with the differ... | BeFree | 26214902 | Detail |
| 0.001 | myeloid leukemia | NA | BeFree | Detail | |
| 0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| 0.007 | Leukemia, Myelomonocytic, Chronic | The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... | BeFree | 24845343 | Detail |
| 0.001 | acute promyelocytic leukemia | NA | BeFree | Detail | |
| 0.001 | leukopenia | NA | BeFree | Detail | |
| 0.003 | Lung Neoplasms | NA | LHGDN | Detail | |
| <0.001 | lymphedema | Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... | BeFree | 26214525 | Detail |
| 0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | malaria | NA | BeFree | Detail | |
| <0.001 | Malaria, Falciparum | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | 14-3-3ε functions as an oncogene in SGC7901 gastric cancer cells through involve... | BeFree | 25310086 | Detail |
| <0.001 | melanoma | NA | BeFree | 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 | |
| <0.001 | myelofibrosis | NA | BeFree | Detail | |
| 0.002 | Myeloproliferative disease | In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... | BeFree | 24845343 | Detail |
| 0.121 | Neoplasm Metastasis | Biological validation further supports that 14-3-3ε, via association with multip... | BeFree,CTD_human | 24363202 | Detail |
| 0.121 | Neoplasm Metastasis | Analysis of a subsequent metastasis in the YWHAE breakapart-negative mUES demons... | BeFree,CTD_human | 24592973 | Detail |
| 0.121 | Neoplasm Metastasis | A previous study by our group indicated a negative correlation between 14‑3‑3ε e... | BeFree,CTD_human | 25310086 | Detail |
| <0.001 | polycythemia vera | The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... | BeFree | 24845343 | Detail |
| 0.011 | Preleukemia | The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in pat... | BeFree | 25481243 | Detail |
| 0.011 | Preleukemia | Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... | BeFree | 25619630 | Detail |
| 0.011 | Preleukemia | Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... | BeFree | 26214525 | Detail |
| <0.001 | Prostatic Neoplasms | NA | BeFree | Detail | |
| 0.004 | schizophrenia | The polymorphism of YWHAE, a gene encoding 14-3-3epsilon, and brain morphology i... | BeFree,LHGDN | 25105667 | Detail |
| <0.001 | Thrombocythemia, Essential | The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... | BeFree | 24845343 | Detail |
| <0.001 | Trisomy | NA | BeFree | Detail | |
| <0.001 | Liver failure | NA | BeFree | Detail | |
| 0.003 | acute leukemia | NA | BeFree | Detail | |
| <0.001 | Monocytosis | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| 0.122 | endometrial stromal sarcoma | Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM2... | BeFree,ORPHANET | 24125656 | Detail |
| 0.122 | endometrial stromal sarcoma | Aggressive behavior and poor prognosis of endometrial stromal sarcomas with YWHA... | BeFree,ORPHANET | 25244606 | Detail |
| <0.001 | Adult Acute Myeloblastic Leukemia | NA | BeFree | 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 | Parasitemia | NA | BeFree | Detail | |
| 0.204 | Miller Dieker syndrome | NA | BeFree,MGD,ORPHANET | Detail | |
| <0.001 | Congenital anomaly of brain | NA | BeFree | Detail | |
| 0.002 | lissencephaly | NA | BeFree | Detail | |
| <0.001 | Congenital anomaly of face | 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 | |
| 0.001 | secondary acute myeloid leukemia | NA | BeFree | Detail | |
| <0.001 | de novo myelodysplastic syndromes | NA | BeFree | Detail | |
| <0.001 | Clear cell sarcoma of kidney | Cyclin D1 overexpression in CCSK is not contingent on YWHAE-FAM22 translocation,... | BeFree | 25751590 | Detail |
| <0.001 | anaplastic astrocytoma | NA | BeFree | Detail | |
| <0.001 | Impaired cognition | NA | BeFree | Detail | |
| <0.001 | Hypoplasia of corpus callosum | NA | BeFree | Detail | |
| 0.001 | juvenile myelomonocytic leukemia | NA | BeFree | Detail | |
| <0.001 | prediabetes syndrome | NA | BeFree | Detail | |
| 0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Dystonia Disorders | NA | BeFree | Detail | |
| 0.001 | Developmental delay (disorder) | NA | BeFree | Detail | |
| 0.002 | 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 | dementia | NA | BeFree | Detail | |
| <0.001 | Pervasive Development Disorder | NA | BeFree | Detail | |
| <0.001 | Severe depression | NA | BeFree | Detail | |
| 0.001 | Carcinogenesis | Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM2... | BeFree | 24125656 | Detail |
| 0.001 | Leukemogenesis | NA | BeFree | Detail | |
| 0.039 | Leukemia, Myelocytic, Acute | Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... | BeFree | 22571758 | Detail |
| <0.001 | thrombocytosis | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... | BeFree | 21350094 | Detail |
| 0.001 | Myeloid Leukemia, Chronic | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... | BeFree | 23846442 | Detail |
| 0.001 | breast carcinoma | The efficacy of the software is verified through MDS and clustering and tested w... | BeFree | 25905921 | Detail |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | 14-3-3ε functions as an oncogene in SGC7901 gastric cancer cells through involve... | BeFree | 25310086 | Detail |
| 0.001 | 5q-syndrome | NA | BeFree | Detail | |
| <0.001 | thrombocytosis | NA | BeFree | Detail | |
| <0.001 | Completed Suicide | NA | BeFree | Detail | |
| <0.001 | Leukemia secondary | NA | BeFree | Detail | |
| <0.001 | Cardiomyopathies | NA | BeFree | Detail | |
| <0.001 | Stromal Neoplasm | NA | BeFree | Detail | |
| <0.001 | sarcoma | 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 |
| 0.002 | 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 | Eosinophilic disorder | NA | BeFree | Detail | |
| <0.001 | Refractory anemia with excess blasts II | NA | BeFree | Detail | |
| <0.001 | Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome | NA | BeFree | Detail | |
| 0.001 | Treatment related acute myeloid leukaemia | NA | BeFree | Detail | |
| <0.001 | Uterine Angiosarcoma | Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM2... | BeFree | 24125656 | Detail |
| <0.001 | renal carcinoma | NA | BeFree | 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 | |
| 0.080 | NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 | NA | MGD | Detail | |
| <0.001 | campomelic dysplasia | NA | BeFree | Detail | |
| 0.120 | Classical Lissencephalies and Subcortical Band Heterotopias | NA | CTD_human | Detail | |
| <0.001 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree | Detail | |
| 0.001 | liver carcinoma | Quantitative proteomic dissection of a native 14-3-3ε interacting protein comple... | BeFree | 24363202 | Detail |
| <0.001 | Endometrial stromal sarcoma, high grade | Specifically, the JAZF1-SUZ12 (formerly JAZF1-JJAZ1) fusion identifies a large p... | BeFree | 25299308 | Detail |
| <0.001 | Endometrial stromal sarcoma, high grade | At the molecular level, these tumours may demonstrate a relatively simple karyot... | BeFree | 25595274 | Detail |
| <0.001 | Refractory anemia with ring sideroblasts associated with marked thrombocytosis | NA | BeFree | Detail | |
| <0.001 | myeloid neoplasm | Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... | BeFree | 25619630 | Detail |
| <0.001 | Endometrial sarcoma | NA | BeFree | 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 |
| 0.009 | myelodysplastic syndrome | The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in pat... | BeFree | 25481243 | Detail |
| 0.009 | myelodysplastic syndrome | Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... | BeFree | 25619630 | Detail |
| 0.009 | myelodysplastic syndrome | Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... | BeFree | 26214525 | Detail |
| 0.120 | CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME | NA | ORPHANET | Detail | |
| 0.001 | Primary myelofibrosis | NA | BeFree | Detail | |
| 0.002 | anemia | NA | BeFree | Detail | |
| 0.001 | aplastic anemia | NA | BeFree | Detail | |
| 0.001 | Refractory anemias | NA | BeFree | Detail | |
| 0.004 | Refractory anaemia with excess blasts | NA | BeFree | Detail | |
| <0.001 | autistic disorder | NA | BeFree | Detail | |
| <0.001 | bipolar disorder | NA | BeFree | Detail | |
| <0.001 | Blast Phase | NA | BeFree | Detail | |
| 0.004 | Malignant neoplasm of breast | The efficacy of the software is verified through MDS and clustering and tested w... | BeFree,GAD | 25905921 | Detail |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | 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 |
| At the molecular level, these tumours may demonstrate a relatively simple karyotype with a defining ... | DisGeNET | Detail |
| Karyotype analysis was performed in 179 patients with AML or MDS with the different chromosomal aber... | 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 |
| NA | DisGeNET | Detail |
| RUNX1 translocations and amplifications have been implicated in acute myeloblastic leukemia, acute l... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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 |
| Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that so... | 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 |
| What came first: MDS or AML? | DisGeNET | Detail |
| This TP53 mutation pattern was strikingly similar to that observed in de novo MDS/AML. | DisGeNET | Detail |
| Karyotype analysis was performed in 179 patients with AML or MDS with the different chromosomal aber... | 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 |
| 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 |
| NA | DisGeNET | Detail |
| 14-3-3ε functions as an oncogene in SGC7901 gastric cancer cells through involvement of cyclin E and... | DisGeNET | Detail |
| NA | 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 |
| NA | DisGeNET | Detail |
| In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles decreased according to... | DisGeNET | Detail |
| Biological validation further supports that 14-3-3ε, via association with multiple BP/pathway-specif... | DisGeNET | Detail |
| Analysis of a subsequent metastasis in the YWHAE breakapart-negative mUES demonstrated a YWHAE delet... | DisGeNET | Detail |
| A previous study by our group indicated a negative correlation between 14‑3‑3ε expression levels and... | DisGeNET | Detail |
| The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... | DisGeNET | Detail |
| The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in patients with Myelodysp... | DisGeNET | Detail |
| Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... | DisGeNET | Detail |
| Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been sho... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The polymorphism of YWHAE, a gene encoding 14-3-3epsilon, and brain morphology in schizophrenia: a v... | DisGeNET | Detail |
| The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM22A and FAM22B, which... | DisGeNET | Detail |
| Aggressive behavior and poor prognosis of endometrial stromal sarcomas with YWHAE-FAM22 rearrangemen... | DisGeNET | Detail |
| NA | 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 |
| 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 |
| Cyclin D1 overexpression in CCSK is not contingent on YWHAE-FAM22 translocation, and cyclin D1 inhib... | 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 |
| 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 |
| Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM22A and FAM22B, which... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... | DisGeNET | Detail |
| The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... | DisGeNET | Detail |
| Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... | DisGeNET | Detail |
| The efficacy of the software is verified through MDS and clustering and tested with available 11 fam... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| 14-3-3ε functions as an oncogene in SGC7901 gastric cancer cells through involvement of cyclin E and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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 |
| 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM22A and FAM22B, which... | DisGeNET | Detail |
| NA | 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 |
| Quantitative proteomic dissection of a native 14-3-3ε interacting protein complex associated with he... | DisGeNET | Detail |
| Specifically, the JAZF1-SUZ12 (formerly JAZF1-JJAZ1) fusion identifies a large proportion of ESN and... | DisGeNET | Detail |
| At the molecular level, these tumours may demonstrate a relatively simple karyotype with a defining ... | 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 |
| Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... | DisGeNET | Detail |
| The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in patients with Myelodysp... | DisGeNET | Detail |
| Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... | DisGeNET | Detail |
| Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been sho... | 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 |
| NA | DisGeNET | Detail |
| The efficacy of the software is verified through MDS and clustering and tested with available 11 fam... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- hg19
- Position
- chr17:1,247,569-1,303,516
- Variant Type
- snv
Genome browser