chr2:98330039:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:98,330,039-98,356,323 |
| hg38 | chr2:97,713,576-97,739,860 |
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 |
|---|---|---|---|---|---|
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| 0.004 | Congenital chromosomal disease | In the overall patient population, prognostic parameters such as IGHV gene mutat... | BeFree | 25445470 | Detail |
| 0.004 | Congenital chromosomal disease | No genotype or allele was significantly associated with important prognostic fac... | BeFree | 25488616 | Detail |
| <0.001 | Condylomata Acuminata | NA | BeFree | Detail | |
| <0.001 | Constitutional Symptom | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | Association of TCR/CD3, PTPN22, CD28 and ZAP70 gene polymorphisms with type 1 di... | BeFree | 25448703 | Detail |
| <0.001 | Glioma | NA | BeFree | Detail | |
| 0.001 | gonorrhea | NA | BeFree | Detail | |
| 0.003 | Hematological Disease | NA | LHGDN | Detail | |
| 0.005 | HIV Infections | NA | BeFree,GAD | Detail | |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| <0.001 | Angioimmunoblastic Lymphadenopathy | NA | BeFree | Detail | |
| 0.120 | Immunologic Deficiency Syndromes | NA | CTD_human | Detail | |
| 0.003 | Laryngeal neoplasm | NA | LHGDN | Detail | |
| 0.013 | leukemia | In addition, gefitinib decreases the viability of ZAP-70+ Jurkat T leukemia cell... | BeFree,LHGDN | 25275600 | Detail |
| 0.080 | chronic lymphocytic leukemia | Twenty-seven patients had high FDG-avidity CLL, which was associated with promin... | BeFree,LHGDN | 24286263 | Detail |
| 0.080 | chronic lymphocytic leukemia | Studies of the correlation between Syk and ZAP-70 expression in CLL cells have b... | BeFree,LHGDN | 24547708 | Detail |
| 0.080 | chronic lymphocytic leukemia | Prognostic markers for chronic lymphocytic leukemia included Rai stage, IgVH mut... | BeFree,LHGDN | 24619633 | Detail |
| 0.080 | chronic lymphocytic leukemia | In conclusion, ZAP70 expression in CLL cells related to ZAP70 expression in NK c... | BeFree,LHGDN | 24924909 | Detail |
| 0.080 | chronic lymphocytic leukemia | Higher CD105 expression was significantly associated with unmutated IgVH genes (... | BeFree,LHGDN | 25030442 | Detail |
| 0.080 | chronic lymphocytic leukemia | This represents the likelihood of tyrosine kinase inhibitors being effective tar... | BeFree,LHGDN | 25275600 | Detail |
| 0.080 | chronic lymphocytic leukemia | Initial evidence of a connection between ZAP-70 and NFκB supports further explor... | BeFree,LHGDN | 25280001 | Detail |
| 0.080 | chronic lymphocytic leukemia | No genotype or allele was significantly associated with important prognostic fac... | BeFree,LHGDN | 25488616 | Detail |
| 0.080 | chronic lymphocytic leukemia | Positive mutation status was found to be associated with unmutated IGHV and ZAP7... | BeFree,LHGDN | 25595892 | Detail |
| 0.080 | chronic lymphocytic leukemia | We have studied the miRNA profile of CLL, and its response to IL-4, by oligonucl... | BeFree,LHGDN | 25909590 | Detail |
| 0.080 | chronic lymphocytic leukemia | Samples were split into CLL-Training (n=102) and CLL-Validation (n=114) sets, an... | BeFree,LHGDN | 26038121 | Detail |
| 0.005 | lymphoid leukemia | NA | LHGDN | Detail | |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| 0.003 | Lupus Erythematosus, Systemic | NA | BeFree,LHGDN | Detail | |
| <0.001 | Lymphocytosis | NA | BeFree | Detail | |
| 0.004 | lymphoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| 0.003 | Lymphoproliferative Disorders | NA | LHGDN | Detail | |
| <0.001 | Waldenstrom Macroglobulinemia | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | Paraproteinemias | NA | BeFree | Detail | |
| 0.003 | Prostatic Neoplasms | NA | LHGDN | Detail | |
| <0.001 | spondyloepiphyseal dysplasia | NA | BeFree | Detail | |
| <0.001 | syphilis | NA | BeFree | Detail | |
| <0.001 | Thrombocythemia, Essential | NA | BeFree | Detail | |
| 0.004 | B-Cell Lymphomas | NA | BeFree,LHGDN | Detail | |
| <0.001 | diffuse large B-cell lymphoma | NA | BeFree | Detail | |
| <0.001 | T-Cell Lymphoma | In conclusion, a lower expression pattern for all three genes may indicate a wea... | BeFree | 25513989 | Detail |
| <0.001 | peripheral T-cell lymphoma | NA | BeFree | Detail | |
| 0.124 | severe combined immunodeficiency | Its role in T-cell development has been established by the severe combined immun... | BeFree,CTD_human | 25049080 | Detail |
| <0.001 | Genital ulceration | NA | BeFree | Detail | |
| 0.001 | Neoplasm, Residual | NA | BeFree | Detail | |
| <0.001 | Mucosa-Associated Lymphoid Tissue Lymphoma | NA | BeFree | Detail | |
| 0.003 | Disease Progression | NA | LHGDN | Detail | |
| <0.001 | Kniest dysplasia | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Nonspecific urethritis | NA | BeFree | Detail | |
| <0.001 | Malignant lymphoma - lymphoplasmacytic | NA | BeFree | Detail | |
| <0.001 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | NA | BeFree | Detail | |
| <0.001 | Human papilloma virus infection | NA | BeFree | Detail | |
| <0.001 | Acute HIV infection | NA | BeFree | Detail | |
| <0.001 | Richter's syndrome | Traditional risk factors for future RS include clinical (advanced Rai stage), bi... | BeFree | 25218362 | Detail |
| <0.001 | Splenic Marginal Zone B-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Seronegative rheumatoid arthritis | NA | BeFree | Detail | |
| 0.002 | Trisomy 12 | NA | BeFree | Detail | |
| <0.001 | Enteropathy-Associated T-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Leukemia, Prolymphocytic, B-Cell | NA | BeFree | Detail | |
| 0.001 | Progressive Neoplastic Disease | NA | BeFree | Detail | |
| <0.001 | Thrombocythemia, Essential | We report two cases of ET with Jak 2 V617F in Zap-70+ CLL. | BeFree | 18849073 | Detail |
| <0.001 | Candidiasis, Vulvovaginal | We investigated the prevalence of vulvovaginal candidiasis due to C. africana in... | BeFree | 24697839 | Detail |
| <0.001 | Subfertility | NA | BeFree | Detail | |
| <0.001 | Chromosome 12, 12p trisomy | NOTCH1 mutations correlated with a shorter treatment-free interval (p = 0.058), ... | BeFree | 24597984 | Detail |
| 0.002 | Precursor B-cell lymphoblastic leukemia | NA | BeFree | Detail | |
| <0.001 | Plasma cell myeloma/plasmacytoma | NA | BeFree | Detail | |
| <0.001 | indolent lymphoma | NA | BeFree | Detail | |
| <0.001 | Histiocytic medullary reticulosis (disorder) | NA | BeFree | Detail | |
| <0.001 | MULTICYSTIC RENAL DYSPLASIA, BILATERAL | NA | BeFree | Detail | |
| <0.001 | Severe Aplastic Anemia | Patients with SAA had an increased levels of LAT and both total phosphorylated L... | BeFree | 24673455 | Detail |
| 0.003 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | Leukemia, B-Cell | NA | BeFree | Detail | |
| <0.001 | Spondyloepiphyseal dysplasia, congenita | NA | BeFree | Detail | |
| 0.241 | ZAP70 deficiency | NA | BeFree,ORPHANET,UNIPROT | Detail | |
| 0.120 | T cell immunodeficiency primary | NA | CTD_human | Detail | |
| 0.001 | Progressive cGVHD | NA | BeFree | Detail | |
| 0.001 | arthritis | NA | BeFree | Detail | |
| 0.081 | rheumatoid arthritis | NA | BeFree,MGD | Detail | |
| <0.001 | Astrocytoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| In the overall patient population, prognostic parameters such as IGHV gene mutational status (P < .0... | DisGeNET | Detail |
| No genotype or allele was significantly associated with important prognostic factors in CLL includin... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of TCR/CD3, PTPN22, CD28 and ZAP70 gene polymorphisms with type 1 diabetes risk in Tunis... | 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 |
| In addition, gefitinib decreases the viability of ZAP-70+ Jurkat T leukemia cells but fails to affec... | DisGeNET | Detail |
| Twenty-seven patients had high FDG-avidity CLL, which was associated with prominent lymph node proli... | DisGeNET | Detail |
| Studies of the correlation between Syk and ZAP-70 expression in CLL cells have brought a new perspec... | DisGeNET | Detail |
| Prognostic markers for chronic lymphocytic leukemia included Rai stage, IgVH mutational status, β2-m... | DisGeNET | Detail |
| In conclusion, ZAP70 expression in CLL cells related to ZAP70 expression in NK cells is a better sur... | DisGeNET | Detail |
| Higher CD105 expression was significantly associated with unmutated IgVH genes (n = 55, p < 0.001), ... | DisGeNET | Detail |
| This represents the likelihood of tyrosine kinase inhibitors being effective targeted treatments for... | DisGeNET | Detail |
| Initial evidence of a connection between ZAP-70 and NFκB supports further exploration of targeting N... | DisGeNET | Detail |
| No genotype or allele was significantly associated with important prognostic factors in CLL includin... | DisGeNET | Detail |
| Positive mutation status was found to be associated with unmutated IGHV and ZAP70 expression, which ... | DisGeNET | Detail |
| We have studied the miRNA profile of CLL, and its response to IL-4, by oligonucleotide microarrays, ... | DisGeNET | Detail |
| Samples were split into CLL-Training (n=102) and CLL-Validation (n=114) sets, and an independent sup... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, a lower expression pattern for all three genes may indicate a weaker immune status ba... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Its role in T-cell development has been established by the severe combined immune deficiency syndrom... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Traditional risk factors for future RS include clinical (advanced Rai stage), biological (ZAP-70, CD... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We report two cases of ET with Jak 2 V617F in Zap-70+ CLL. | DisGeNET | Detail |
| We investigated the prevalence of vulvovaginal candidiasis due to C. africana in an STD clinic in In... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NOTCH1 mutations correlated with a shorter treatment-free interval (p = 0.058), an unmutated immunog... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Patients with SAA had an increased levels of LAT and both total phosphorylated LAT and of the relate... | 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 |
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
- chr2:98,330,039-98,356,323
- Variant Type
- snv
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