chr4:54657267:> Detail (hg38) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,523,434-55,606,949 
hg38 chr4:54,657,267-54,740,783

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
Disease Drug EL ET ED CS VO TR Pubmed Links
gastrointestinal stromal tumor Imatinib C Predictive Supports Sensitivity/Response Somatic 2 14645423 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 squamous cell carcinoma NA BeFree,LHGDN Detail
<0.001 carcinosarcoma NA BeFree Detail
<0.001 cholera NA BeFree Detail
<0.001 chondrosarcoma NA BeFree Detail
<0.001 chordoma NA BeFree Detail
0.002 Congenital chromosomal disease NA BeFree Detail
0.004 Colonic Neoplasms Maintenance of Clonogenic KIT(+) Human Colon Tumor Cells Requires Secretion of S... BeFree,LHGDN 25962936 Detail
0.004 Colonic Neoplasms Patients with KIT-expressing colon tumors can benefit from KIT RTK inhibitors. BeFree,LHGDN 26026391 Detail
0.002 colorectal carcinoma NA BeFree Detail
0.005 adenoid cystic carcinoma We retrieved 27 cases of 1-4-cm-sized adenoid cystic carcinomas (ACCs) arising f... BeFree,LHGDN 24456477 Detail
0.005 Phyllodes Tumor Despite a lack of mutations in the KIT gene, CD117 protein expression is associa... BeFree,LHGDN 25216225 Detail
0.005 Phyllodes Tumor C-kit overexpression correlates with KIT gene copy numbers increases in phyllode... BeFree,LHGDN 25534827 Detail
<0.001 Deglutition Disorders NA BeFree Detail
0.003 Down syndrome NA BeFree,LHGDN Detail
0.001 dysgerminoma NA BeFree Detail
<0.001 Experimental Autoimmune Encephalomyelitis We therefore examined the role of c-kit in autoantigen-induced i.v. tolerance in... BeFree 25588867 Detail
<0.001 Ependymoma C-Kit and VEGFR2 labeled blood vessels were more abundant in ependymoma than in ... BeFree 24190638 Detail
<0.001 Esophageal Stenosis NA BeFree Detail
<0.001 Fibromatosis NA BeFree Detail
<0.001 Gastrointestinal Neoplasms NA BeFree Detail
<0.001 Giant Cell Tumors NA BeFree Detail
0.002 glioblastoma We find evidence of regional mutational heterogeneity in multiple tumors, includ... BeFree 25608559 Detail
0.004 Glioma NA BeFree,LHGDN Detail
0.003 glomerulonephritis NA LHGDN Detail
<0.001 gonadal dysgenesis NA BeFree Detail
0.001 Eosinophilia Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
0.001 Eosinophilic disorder Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
<0.001 gynecomastia NA BeFree Detail
<0.001 Hypereosinophilia KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of ... BeFree 26017288 Detail
0.001 Disorder characterized by eosinophilia Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
0.001 Hemangiosarcoma NA BeFree Detail
<0.001 hepatitis B NA BeFree Detail
<0.001 hepatitis C NA BeFree Detail
<0.001 Hepatomegaly NA BeFree Detail
<0.001 hypoglycemia NA BeFree Detail
0.083 male infertility Indeed, deregulating the SCF/c-KIT system by attenuation or overactivation of it... BeFree,GAD,RGD 25359157 Detail
<0.001 Intestinal Neoplasms NA BeFree Detail
0.001 Kidney Neoplasm The objective of our study was to analyse c-kit in a large cohort of renal tumor... BeFree 24875296 Detail
0.002 Fibroid Tumor Variable numbers of CD117 positive cells were seen in all leiomyomas. BeFree 25487836 Detail
0.003 leiomyosarcoma NA BeFree Detail
0.019 leukemia The 2-year cumulative incidence of relapse (CIR) and leukemia-free survival (LFS... BeFree,GAD,LHGDN 25082877 Detail
0.019 leukemia Imatinib mesylate is a chemotherapeutic drug that inhibits the tyrosine kinase a... BeFree,GAD,LHGDN 25786656 Detail
0.001 Acute Erythroblastic Leukemia NA BeFree Detail
0.002 Acute lymphocytic leukemia NA BeFree Detail
0.126 Leukemia, Mast-Cell Chronic mast cell leukemia (MCL) with KIT S476I: a rare entity defined by leukem... BeFree,CLINVAR,LHGDN 25209843 Detail
0.301 Leukemia, Myelocytic, Acute We found a significant positive correlation between tryptase and C-KIT expressio... BeFree,CLINVAR,CTD_human,GAD,LHGDN 24806698 Detail
0.301 Leukemia, Myelocytic, Acute Oncogenic mutations of FLT3 and KIT receptors are associated with poor survival ... BeFree,CLINVAR,CTD_human,GAD,LHGDN 25456130 Detail
0.301 Leukemia, Myelocytic, Acute As a more complete understanding of kinase networks emerges, it may be possible ... BeFree,CLINVAR,CTD_human,GAD,LHGDN 25531068 Detail
0.301 Leukemia, Myelocytic, Acute A KIT inhibitor might be an effective treatment against the forms of AML in whic... BeFree,CLINVAR,CTD_human,GAD,LHGDN 25928165 Detail
0.301 Leukemia, Myelocytic, Acute Long non-coding RNA HOTAIR modulates c-KIT expression through sponging miR-193a ... BeFree,CLINVAR,CTD_human,GAD,LHGDN 25979172 Detail
0.301 Leukemia, Myelocytic, Acute As the genetic landscape of AML has been mapped, other attractive targets for th... BeFree,CLINVAR,CTD_human,GAD,LHGDN 26111466 Detail
0.013 myeloid leukemia Long noncoding RNA, CCDC26, controls myeloid leukemia cell growth through regula... BeFree,GAD 25928165 Detail
0.007 Myeloid Leukemia, Chronic NA BeFree,LHGDN Detail
<0.001 Leukemia, Myelomonocytic, Chronic NA BeFree Detail
0.002 acute promyelocytic leukemia NA BeFree Detail
<0.001 lipoma NA BeFree Detail
0.003 Liver neoplasms NA BeFree,GAD Detail
0.120 Lung diseases NA BeFree,CTD_human Detail
<0.001 Chronic Obstructive Airway Disease In conclusion, CAMK1D, ALB, KIT, and DDX3Y were chosen as candidate genes, which... BeFree 25366777 Detail
0.003 Lung Neoplasms NA BeFree,GAD Detail
0.008 lymphoma NA BeFree,LHGDN Detail
<0.001 Lymphoma, Follicular NA BeFree Detail
<0.001 Lymphoproliferative Disorders NA BeFree Detail
0.003 Malignant neoplasm of stomach NA BeFree,GAD Detail
0.080 Mammary Neoplasms, Experimental NA RGD Detail
0.001 Mastocytoma NA BeFree Detail
<0.001 Mediastinal Neoplasms NA BeFree Detail
<0.001 medulloblastoma NA BeFree Detail
0.068 melanoma C-KIT mutations are associatied with several human malignancies, such as gastroi... BeFree,GAD,LHGDN 23944364 Detail
0.068 melanoma BRAF, NRAS, and KIT are three well-known oncogenes involved in melanoma pathogen... BeFree,GAD,LHGDN 24468268 Detail
0.068 melanoma KIT mutations appear to be specific for melanomas of the vulva, suggesting that ... BeFree,GAD,LHGDN 24603591 Detail
0.068 melanoma Novel somatic KIT exon 8 mutation with dramatic response to imatinib in a patien... BeFree,GAD,LHGDN 25003536 Detail
0.068 melanoma The prevalence of BRAFV600 and KIT mutations were significantly associated with ... BeFree,GAD,LHGDN 25148578 Detail
0.068 melanoma KIT is a frequent target for epigenetic silencing in cutaneous melanoma. BeFree,GAD,LHGDN 25178104 Detail
0.068 melanoma Driver KIT mutations in melanoma cluster in four hotspots. BeFree,GAD,LHGDN 25304235 Detail
0.068 melanoma IMPORTANCE The KIT receptor is mutated in approximately 15%of acral, mucosal, an... BeFree,GAD,LHGDN 25317746 Detail
0.068 melanoma KIT genetic alterations in anorectal melanomas. BeFree,GAD,LHGDN 25398993 Detail
0.068 melanoma The mutational status of BRAF, RAS, GNAQ, GNA11 and KIT genes in Grey horse mela... BeFree,GAD,LHGDN 25413220 Detail
0.068 melanoma KIT in melanoma: many shades of gray. BeFree,GAD,LHGDN 25573046 Detail
0.068 melanoma Metabolic response by FDG-PET to imatinib correlates with exon 11 KIT mutation a... BeFree,GAD,LHGDN 25609545 Detail
0.003 Mesothelioma NA LHGDN Detail
<0.001 Microphthalmos NA BeFree Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance NA BeFree Detail
<0.001 Monosomy NA BeFree Detail
0.007 multiple myeloma A multivariate Cox model showed that chromosome 1 abnormalities, age >75 years a... BeFree,LHGDN 25015938 Detail
<0.001 Myelodysplasia NA BeFree Detail
<0.001 myelofibrosis NA BeFree Detail
<0.001 Acute Myeloid Leukemia, M1 NA BeFree Detail
0.002 Myeloproliferative disease Oncogenic mutations of FLT3 and KIT receptors are associated with poor survival ... BeFree 25456130 Detail
0.003 Myxoma NA LHGDN Detail
0.019 Neoplasm Metastasis FGFR3, VEGFR2, and C-KIT levels were associated with decreased risk of metastasi... BeFree,LHGDN 24390213 Detail
0.019 Neoplasm Metastasis We performed molecular characterization of BRAF/NRAS/KIT mutational status in no... BeFree,LHGDN 24866436 Detail
0.019 Neoplasm Metastasis The difference between succinate dehydrogenase subunit A-mutant gastrointestinal... BeFree,LHGDN 25188872 Detail
0.019 Neoplasm Metastasis In this study, we conclude that immunohistopathology assays for KIT staining pat... BeFree,LHGDN 25315185 Detail
0.019 Neoplasm Metastasis Functional KIT mutations were demonstrated in 11/31 (35.5%) of AR melanomas and ... BeFree,LHGDN 25398993 Detail
0.019 Neoplasm Metastasis Gastrointestinal stromal tumors with exon 8 c-kit gene mutation might occur at e... BeFree,LHGDN 25550846 Detail
0.127 Neoplasm Recurrence, Local NA CTD_human,GAD Detail
0.002 Neoplasm Seeding NA GAD Detail
0.008 Neoplasms, Germ Cell and Embryonal NA LHGDN Detail
<0.001 nephroblastoma NA BeFree Detail
0.002 neurilemmoma NA BeFree Detail
0.002 neuroblastoma In addition, we showed that Prokineticin signaling and mitogen-activated protein... BeFree 24632619 Detail
<0.001 neurofibroma NA BeFree Detail
0.006 neurofibromatosis 1 The molecular biology of these GIST, originally defined as KIT/PDGFRA wild-type ... BeFree,LHGDN 25239601 Detail
<0.001 Nevus NA BeFree Detail
<0.001 Melanocytic nevus NA BeFree Detail
<0.001 Nodule NA BeFree Detail
<0.001 obesity NA BeFree Detail
0.003 oligospermia NA BeFree,GAD Detail
0.003 osteoporosis NA BeFree,LHGDN Detail
0.007 osteosarcoma NA BeFree,LHGDN Detail
0.002 ovarian carcinoma It has been experimentally demonstrated that a microRNA, namely miR-193a, target... BeFree 25545504 Detail
0.005 Pancreatic Neoplasm NA GAD,LHGDN Detail
<0.001 papilloma NA BeFree Detail
<0.001 pheochromocytoma NA BeFree Detail
<0.001 pituitary adenoma NA BeFree Detail
<0.001 plasmacytoma NA BeFree Detail
0.004 polycythemia vera NA BeFree,LHGDN Detail
<0.001 Adenomatous Polyposis Coli NA BeFree Detail
<0.001 polyps NA BeFree Detail
<0.001 Preleukemia NA BeFree Detail
<0.001 retinoblastoma NA BeFree Detail
<0.001 rhabdomyosarcoma NA BeFree Detail
<0.001 mast-cell sarcoma NA BeFree Detail
0.008 seminoma NA BeFree,LHGDN Detail
0.010 Skin Neoplasms NA BeFree,GAD Detail
<0.001 Soft Tissue Neoplasms NA BeFree Detail
0.002 Splenic Neoplasms NA GAD Detail
0.003 Stomach Neoplasms NA BeFree,GAD Detail
0.004 synovial sarcoma NA BeFree,LHGDN Detail
<0.001 teratoma NA BeFree Detail
<0.001 Testicular Neoplasms NA BeFree Detail
<0.001 thoracic outlet syndrome NA BeFree Detail
0.004 thymoma NA BeFree,LHGDN Detail
0.003 Thyroid Diseases NA LHGDN Detail
0.003 Thyroid Neoplasm NA LHGDN Detail
<0.001 Thyroid Nodule NA BeFree Detail
0.005 Chromosomal translocation NA GAD Detail
0.001 Trisomy NA BeFree Detail
<0.001 Turner syndrome New NOBOX mutations identified in a large cohort of women with primary ovarian i... BeFree 25514101 Detail
0.002 Uterine Fibroids Variable numbers of CD117 positive cells were seen in all leiomyomas. BeFree 25487836 Detail
0.003 vitiligo NA BeFree,GAD Detail
<0.001 xeroderma pigmentosum NA BeFree Detail
0.003 B-Cell Lymphomas NA LHGDN Detail
0.003 T-Cell Lymphoma NA BeFree,LHGDN Detail
<0.001 Lymphoma, T-Cell, Cutaneous NA BeFree Detail
0.567 piebaldism Piebaldism is an autosomal dominant disorder characterized by the congenital abs... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 24961053 Detail
0.567 piebaldism 4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldi... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 25355368 Detail
<0.001 Pleural Effusion, Malignant NA BeFree Detail
<0.001 gestational diabetes NA BeFree Detail
<0.001 Ovarian Failure, Premature New NOBOX mutations identified in a large cohort of women with primary ovarian i... BeFree 25514101 Detail
0.002 acute leukemia NA BeFree Detail
0.129 Small cell carcinoma of lung NA BeFree,CTD_human,LHGDN Detail
0.003 Myocardial Ischemia NA LHGDN Detail
0.001 Cutaneous Melanoma KIT is a frequent target for epigenetic silencing in cutaneous melanoma. BeFree 25178104 Detail
0.001 Cutaneous Melanoma Until now, KIT has been considered an oncogenic driver and a potential therapeut... BeFree 25573046 Detail
<0.001 Adenocarcinoma of lung (disorder) Mast cell exosomes promote lung adenocarcinoma cell proliferation - role of KIT-... BeFree 25311367 Detail
<0.001 Secondary malignant neoplasm of skin NA BeFree Detail
<0.001 Secondary malignant neoplasm of bone NA BeFree Detail
<0.001 Uterine Polyp NA BeFree Detail
<0.001 Neurofibromatoses NA BeFree Detail
0.005 Hyperpigmentation NA GAD Detail
0.001 Hypopigmentation disorder NA BeFree Detail
0.002 Agenesis of corpus callosum We retrieved 27 cases of 1-4-cm-sized adenoid cystic carcinomas (ACCs) arising f... BeFree 24456477 Detail
0.002 Agenesis of corpus callosum Over 90% of all ACCs were grade 1 or 2 and exhibited diffuse (>50%) positivity w... BeFree 26076064 Detail
<0.001 Gammopathy NA BeFree Detail
0.004 Tumor Progression Here, we used NB tumor-initiating cells to reconstitute NB development and demon... BeFree 24632619 Detail
<0.001 Carcinoma, Spindle-Cell NA BeFree Detail
0.003 Germ cell tumor NA BeFree Detail
0.003 thymic carcinoma The presence of KIT mutations in thymic carcinomas is also well described. BeFree 24857125 Detail
<0.001 Lung Diseases, Interstitial NA BeFree Detail
<0.001 Idiopathic hypereosinophilic syndrome NA BeFree Detail
0.001 Ki-1+ Anaplastic Large Cell Lymphoma NA BeFree Detail
<0.001 Lymphomatoid Papulosis NA BeFree Detail
<0.001 adenosquamous carcinoma NA BeFree Detail
<0.001 Mesoblastic Nephroma NA BeFree Detail
<0.001 pulmonary blastoma NA BeFree Detail
<0.001 endometrial stromal sarcoma NA BeFree Detail
0.001 angiomyolipoma NA BeFree Detail
<0.001 Liposarcoma, Myxoid NA BeFree Detail
<0.001 Myelolipoma NA BeFree Detail
<0.001 Fibromatosis, Abdominal NA BeFree Detail
<0.001 Fibroadenoma NA BeFree Detail
0.004 Sarcoma, Clear Cell NA BeFree,LHGDN Detail
0.001 smooth muscle tumor NA BeFree Detail
<0.001 embryonal carcinoma NA BeFree Detail
0.004 germinoma Mutually exclusive mutations of KIT and RAS are associated with KIT mRNA express... BeFree,LHGDN 24452629 Detail
0.004 germinoma We therefore postulate that germinomas in the brain share a similar mechanism wi... BeFree,LHGDN 25736805 Detail
<0.001 Neuroectodermal Tumor, Primitive NA BeFree Detail
<0.001 Carcinoma, Endometrioid NA BeFree Detail
<0.001 mucoepidermoid carcinoma NA BeFree Detail
0.006 Carcinoma, Neuroendocrine Synchronous poorly-differentiated neuroendocrine carcinoma and gastrointestinal ... BeFree,LHGDN 25674291 Detail
0.003 gliosarcoma NA BeFree,LHGDN Detail
0.006 Nerve Sheath Tumors NA BeFree,LHGDN Detail
<0.001 plexiform neurofibroma NA BeFree Detail
0.001 Neuroendocrine Tumors NA BeFree Detail
<0.001 Nevi and Melanomas NA BeFree Detail
<0.001 childhood brain tumor NA BeFree Detail
0.002 pediatric acute myeloblastic leukemia NA BeFree Detail
0.001 uveal melanoma NA BeFree Detail
<0.001 Breast Phyllodes Tumor CD117 expression in breast phyllodes tumors correlates with adverse pathologic p... BeFree 25216225 Detail
<0.001 Leiomyoma of esophagus Mast cells or not? - CD117 positive cells in esophageal leiomyoma. BeFree 25487836 Detail
0.760 Gastrointestinal Stromal Tumors C-KIT mutations are associatied with several human malignancies, such as gastroi... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 23944364 Detail
0.760 Gastrointestinal Stromal Tumors In gastrointestinal stromal tumors (GIST), molecularly targeted therapies, start... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24727986 Detail
0.760 Gastrointestinal Stromal Tumors Novel therapies targeting multiple components of the integrated KIT receptor sig... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24743220 Detail
0.760 Gastrointestinal Stromal Tumors Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointe... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24802226 Detail
0.760 Gastrointestinal Stromal Tumors In addition, the frequency of ETV1 positivity was higher when compared with KIT ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24970355 Detail
0.760 Gastrointestinal Stromal Tumors The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA m... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25027296 Detail
0.760 Gastrointestinal Stromal Tumors Frequent KIT mutations in human gastrointestinal stromal tumors. BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25080996 Detail
0.760 Gastrointestinal Stromal Tumors Quadruple wild-type (WT) GIST: defining the subset of GIST that lacks abnormalit... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25165019 Detail
0.760 Gastrointestinal Stromal Tumors Kaplan-Meier curves and log-rank tests were used to compare the survival of pati... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25188872 Detail
0.760 Gastrointestinal Stromal Tumors Furthermore, SDHB immunohistochemistry alone may be misleading in excluding tumo... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25205505 Detail
0.760 Gastrointestinal Stromal Tumors Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-t... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25239601 Detail
0.760 Gastrointestinal Stromal Tumors Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeu... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25239608 Detail
0.760 Gastrointestinal Stromal Tumors Categorization of GIST based on KIT genotype and PI3K/PTEN genomic status combin... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25316817 Detail
0.760 Gastrointestinal Stromal Tumors The cnLOH of whole C/CA is a frequent genetic alteration in GISTs and is closely... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25373456 Detail
0.760 Gastrointestinal Stromal Tumors The diagnosis is confirmed by immunohistochemistry tests that identify CD 117 or... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25408717 Detail
0.760 Gastrointestinal Stromal Tumors There is growing evidence of phenotype-genotype (KIT, platelet-derived growth fa... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25414046 Detail
0.760 Gastrointestinal Stromal Tumors Novel oncogene and tumor suppressor mutations in KIT and PDGFRA wild type gastro... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25427437 Detail
0.760 Gastrointestinal Stromal Tumors Crosstalk between KIT and FGFR3 Promotes Gastrointestinal Stromal Tumor Cell Gro... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25432174 Detail
0.760 Gastrointestinal Stromal Tumors KIT and PDGFRA gene mutations are the major genetic alterations seen in gastroin... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25481675 Detail
0.760 Gastrointestinal Stromal Tumors The immunoreactivity of these cells with CD117 may suggest a diagnosis of GIST, ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25487836 Detail
0.760 Gastrointestinal Stromal Tumors There is no standard protocol for addressing the surveillance of patients with s... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25504284 Detail
0.760 Gastrointestinal Stromal Tumors SDH-deficient gastrointestinal stromal tumors (dSDH GISTs) collectively manifest... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25540324 Detail
0.760 Gastrointestinal Stromal Tumors Oncogenic KIT mutations play an important driver role in gastrointestinal stroma... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25544564 Detail
0.760 Gastrointestinal Stromal Tumors Gastrointestinal stromal tumors with exon 8 c-kit gene mutation might occur at e... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25550846 Detail
0.760 Gastrointestinal Stromal Tumors Despite the clinical success of imatinib, which targets KIT, most patients with ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25572173 Detail
0.760 Gastrointestinal Stromal Tumors GISTs with an identical KIT or PDGFRA mutation may have widely varying risks for... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25605837 Detail
0.760 Gastrointestinal Stromal Tumors The combination of KIT and FGFR inhibition showed increased growth inhibition in... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25673643 Detail
0.760 Gastrointestinal Stromal Tumors This is the first documented case of synchronous gastric GIST and NEC with the e... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25674291 Detail
0.760 Gastrointestinal Stromal Tumors However, there are still 10%-15% of GISTs lacking KIT and PDGFRA mutations, call... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25741136 Detail
0.760 Gastrointestinal Stromal Tumors DOG1 is particularly useful in the diagnosis of KIT-negative GIST, including tum... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25766843 Detail
0.760 Gastrointestinal Stromal Tumors Inhibition of KIT-glycosylation by 2-deoxyglucose abrogates KIT-signaling and co... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25781619 Detail
0.760 Gastrointestinal Stromal Tumors However, in 10-15% of all GIST, no such activating mutations can be found and th... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25831232 Detail
0.760 Gastrointestinal Stromal Tumors Pharmacological Inhibition of KIT Activates MET Signaling in Gastrointestinal St... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25836719 Detail
0.760 Gastrointestinal Stromal Tumors Platelet-Derived Growth Factor Receptor-α Regulates Proliferation of Gastrointes... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25865047 Detail
0.760 Gastrointestinal Stromal Tumors Most mechanistic studies dealing with GIST mutations have focused on c-KIT and f... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25880691 Detail
0.760 Gastrointestinal Stromal Tumors We obtained 53.7% of mutations in exon 11 and 7.4% in exon 9 of c-KIT gene; 12% ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25885906 Detail
0.760 Gastrointestinal Stromal Tumors With a sensitivity level of down to 0.02%, no pre-existing resistant subclones w... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25886408 Detail
0.760 Gastrointestinal Stromal Tumors Mutation was a significant prognostic indicator of overall survival in naive, lo... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25970686 Detail
0.760 Gastrointestinal Stromal Tumors Secondary mutations were detectable mainly in KIT exon 11 mutant GISTs after pro... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 26240289 Detail
0.760 Gastrointestinal Stromal Tumors Notably, ETV1 was positive in 15 of 26 (58 %) KIT-negative GISTs and even positi... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 26243012 Detail
<0.001 Anaplastic thyroid carcinoma NA BeFree Detail
<0.001 Papillary thyroid carcinoma NA BeFree Detail
<0.001 Angiomyolipoma of kidney NA BeFree Detail
<0.001 islet cell tumor NA BeFree Detail
0.001 Malignant neoplasm of lung The DNA Methyltransferase DNMT1 and Tyrosine-Protein Kinase KIT Cooperatively Pr... BeFree 26085088 Detail
0.005 Neoplasm, Residual In conclusion, MRD monitoring early after transplant allows further rapid identi... BeFree,GAD 25082877 Detail
0.005 Carcinoma, Small Cell NA BeFree,LHGDN Detail
0.120 Telangiectasia macularis eruptiva perstans NA ORPHANET Detail
<0.001 disseminated eosinophilic collagen disease NA BeFree Detail
<0.001 Trisomy 22 NA BeFree Detail
<0.001 Retroperitoneal mass NA BeFree Detail
<0.001 Small cell lung cancer recurrent NA BeFree Detail
0.004 Metastatic melanoma Characterization of S628N: a novel KIT mutation found in a metastatic melanoma. BeFree 25317746 Detail
0.004 Metastatic melanoma The rate of functional mutations in KIT is significantly higher in AR MM than in... BeFree 25398993 Detail
0.004 Metastatic melanoma Baseline and 4-week follow-up 18F-FDG-PET/CT were evaluated in 17 patients with ... BeFree 25609545 Detail
<0.001 T-cell adult acute lymphoblastic leukemia NA BeFree Detail
0.760 Gastrointestinal Stromal Tumors GISTs may originate from the interstitial cells of Cajal (ICCs) because the deve... UNIPROT 9438854 Detail
<0.001 Conventional (Clear Cell) Renal Cell Carcinoma NA BeFree Detail
<0.001 testicular embryonal carcinoma and teratoma NA BeFree Detail
<0.001 Adenoid cystic carcinoma of salivary gland NA BeFree Detail
<0.001 extraosseous Ewings sarcoma-primitive neuroepithelial tumor NA BeFree Detail
0.004 Solid tumour Somatic exon 8 KIT mutations have not been previously reported in mucosal melano... BeFree 25003536 Detail
0.004 Solid tumour Imatinib mesylate is a chemotherapeutic drug that inhibits the tyrosine kinase a... BeFree 25786656 Detail
<0.001 uterine carcinosarcoma NA BeFree Detail
<0.001 Menstrual spotting NA BeFree Detail
<0.001 inflammatory myofibroblastic tumor To evaluate possible diagnostic utility of SDHB immunohistochemistry in the diff... BeFree 25205505 Detail
<0.001 Nonpigmented nevus NA BeFree Detail
<0.001 Teratoma, Malignant NA BeFree Detail
<0.001 anaplastic astrocytoma NA BeFree Detail
<0.001 pilocytic astrocytoma NA BeFree Detail
<0.001 anaplastic oligodendroglioma We find evidence of regional mutational heterogeneity in multiple tumors, includ... BeFree 25608559 Detail
0.003 mast cell neoplasm Somatic exon 8 KIT mutations have not been previously reported in mucosal melano... BeFree 25003536 Detail
0.003 mast cell neoplasm Diagnostic procedures for improving of the KIT (CD117) expressed allele burden f... BeFree 25315185 Detail
0.003 mast cell neoplasm KIT mutation analysis in mast cell neoplasms: recommendations of the European Co... BeFree 25650093 Detail
<0.001 Congenital neutropenia NA BeFree Detail
0.120 Skin Mastocytoma NA BeFree,ORPHANET Detail
<0.001 Acral Lentiginous Malignant Melanoma NA BeFree Detail
<0.001 dysgerminoma of ovary NA BeFree Detail
<0.001 Oncocytoma, renal NA BeFree Detail
<0.001 Malignant melanoma of iris NA BeFree Detail
<0.001 Malignant melanoma of ciliary body NA BeFree Detail
<0.001 juvenile myelomonocytic leukemia Cultured JMML CD34(+)CD38(-) cells expressed CD117, CD116, c-mpl, CD123, CD90, b... BeFree 25102944 Detail
<0.001 Malignant neoplasm of vulva NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 Hematopoietic Neoplasms NA BeFree Detail
0.003 Hematologic Neoplasms NA BeFree,GAD Detail
<0.001 dermatofibrosarcoma protuberans NA BeFree Detail
<0.001 Chromosome 8, trisomy NA BeFree Detail
<0.001 endometrial carcinoma We assessed the safety and activity of dovitinib, a potent tyrosine-kinase inhib... BeFree 25981814 Detail
0.001 Secondary malignant neoplasm of liver Diagnostic procedures for improving of the KIT (CD117) expressed allele burden f... BeFree 25315185 Detail
0.001 Recurrent tumor NA BeFree Detail
<0.001 Ewings sarcoma NA BeFree Detail
<0.001 Malignant glioma NA BeFree Detail
<0.001 Malignant melanoma of eye NA BeFree Detail
<0.001 Osteosarcoma of bone NA BeFree Detail
0.007 Carcinogenesis On the other hand, the fine regulation of tissue homeostasis by mechanisms that ... BeFree 25359157 Detail
0.007 Carcinogenesis Mutated KIT and platelet-derived growth factor alpha gene (PDGFRA) drive GI stro... BeFree 25605837 Detail
0.007 Carcinogenesis KIT appears to be necessary to stabilize ETV1, and ETV1 then activates oncogenes... BeFree 25736805 Detail
0.002 Leukemogenesis Regulation of Stat5 by FAK and PAK1 in Oncogenic FLT3- and KIT-Driven Leukemogen... BeFree 25456130 Detail
<0.001 Malignant Cystosarcoma Phyllodes We demonstrated that c-kit expression in the stroma of PTs is positively associa... BeFree 25534827 Detail
<0.001 prostate carcinoma NA BeFree Detail
<0.001 CARCINOMA OF VULVA NA BeFree Detail
0.281 Mastocytosis, Systemic It is hoped that the same will happen in other MPN with specific genetic alterat... BeFree 19175693 Detail
<0.001 Epithelial ovarian cancer NA BeFree Detail
<0.001 Refractory cancer NA BeFree Detail
0.002 breast carcinoma NA BeFree Detail
0.008 lymphoma It is hoped that the same will happen in other MPN with specific genetic alterat... BeFree 19175693 Detail
<0.001 Lesion of stomach NA BeFree Detail
<0.001 Carcinoma of lung The DNA Methyltransferase DNMT1 and Tyrosine-Protein Kinase KIT Cooperatively Pr... BeFree 26085088 Detail
0.120 Ewings sarcoma-primitive neuroectodermal tumor (PNET) NA BeFree,CTD_human Detail
0.002 Malignant neoplasm of gastrointestinal tract NA GAD Detail
0.002 Secondary malignant neoplasm of lymph node NA BeFree Detail
<0.001 colon carcinoma Imatinib inhibited growth of KIT(+) colon cancer organoids in culture and growth... BeFree 26026391 Detail
0.001 stomach carcinoma NA BeFree Detail
0.001 Central neuroblastoma In addition, we showed that Prokineticin signaling and mitogen-activated protein... BeFree 24632619 Detail
0.002 Slow transit constipation NA GAD Detail
<0.001 germ cell cancer NA BeFree Detail
<0.001 Malignant neoplasm of kidney NA BeFree Detail
<0.001 Brain Tumor, Primary NA BeFree Detail
<0.001 adult acute lymphocytic leukemia NA BeFree Detail
<0.001 malignant peripheral nerve sheath tumor NA BeFree Detail
<0.001 Myelosuppression Clinically active investigational FLT3 inhibitors can achieve complete remission... BeFree 25531068 Detail
0.001 Pineal germinoma Mutually exclusive mutations of KIT and RAS are associated with KIT mRNA express... BeFree 24452629 Detail
0.001 Pineal germinoma We therefore postulate that germinomas in the brain share a similar mechanism wi... BeFree 25736805 Detail
<0.001 Rhabdoid Tumor of the Kidney NA BeFree Detail
<0.001 Testicular malignant germ cell tumor Moreover, multiple consistent observations reported TGCC to be associated with K... BeFree 25066859 Detail
0.003 Stromal Neoplasm KIT and PDGFRA mutations and the risk of GI stromal tumor recurrence. BeFree 25605837 Detail
0.003 ovarian neoplasm NA BeFree,LHGDN Detail
<0.001 salivary gland carcinoma NA BeFree Detail
0.001 Hurthle Cell Tumor NA BeFree Detail
0.001 aggressive systemic mastocytosis NA BeFree Detail
<0.001 cutaneous mastocytosis NA BeFree Detail
<0.001 Monoclonal Gammapathies NA BeFree Detail
0.001 Malignant neoplasm of ovary It has been experimentally demonstrated that a microRNA, namely miR-193a, target... BeFree 25545504 Detail
0.012 sarcoma Gastrointestinal stromal tumors (GIST) are the most common adult sarcomas and th... BeFree,LHGDN 25836719 Detail
0.012 sarcoma Gastrointestinal stromal tumors are sarcomas of the digestive tract characterize... BeFree,LHGDN 25885906 Detail
<0.001 Disorder of intra-abdominal lymph nodes To gain better insight into clinical characteristics, we compared these cases wi... BeFree 26017288 Detail
<0.001 large cell neuroendocrine carcinoma NA BeFree Detail
0.001 chromophobe renal cell carcinoma NA BeFree Detail
<0.001 Solitary fibrous tumor Furthermore, SDHB immunohistochemistry alone may be misleading in excluding tumo... BeFree 25205505 Detail
<0.001 Intratubular malignant germ cells NA BeFree Detail
<0.001 Nonseminomatous germ cell tumor NA BeFree Detail
0.001 Familial mastocytosis NA BeFree Detail
<0.001 Histiocytic neoplasm (morphology) NA BeFree Detail
<0.001 Precursor B-cell lymphoblastic leukemia NA BeFree Detail
<0.001 Chronic myeloproliferative disorder Oncogenic mutations of FLT3 and KIT receptors are associated with poor survival ... BeFree 25456130 Detail
0.120 Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease NA ORPHANET Detail
0.003 Thymoma, type C The presence of KIT mutations in thymic carcinomas is also well described. BeFree 24857125 Detail
<0.001 childhood osteosarcoma NA BeFree Detail
<0.001 Desmoplastic melanoma Whereas a number of mutations have been identified in primary melanoma, includin... BeFree 26076063 Detail
<0.001 Extragastrointestinal Gastrointestinal Stromal Tumor NA BeFree Detail
0.002 Gastric Gastrointestinal Stromal Tumor Synchronous poorly-differentiated neuroendocrine carcinoma and gastrointestinal ... BeFree 25674291 Detail
<0.001 Hereditary Paraganglioma NA BeFree Detail
<0.001 Large Cell Lung Neuroendocrine Carcinoma NA BeFree Detail
0.002 mesenchymal cell neoplasm Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointe... BeFree 24802226 Detail
0.002 mesenchymal cell neoplasm To evaluate possible diagnostic utility of SDHB immunohistochemistry in the diff... BeFree 25205505 Detail
0.002 mesenchymal cell neoplasm The discovery of KIT gene mutation in gastrointestinal stromal tumor (GIST) has ... BeFree 25414046 Detail
<0.001 Mixed Cell Type Gastrointestinal Stromal Tumor NA BeFree Detail
<0.001 Conventional Chondrosarcoma NA BeFree Detail
<0.001 Refractory Neoplasm NA BeFree Detail
<0.001 Gastrointestinal stromal tumor of small intestine NA BeFree Detail
<0.001 Spindle Cell Neoplasm NA BeFree Detail
<0.001 Spindle Cell Type Gastrointestinal Stromal Tumor There is no standard protocol for addressing the surveillance of patients with s... BeFree 25504284 Detail
<0.001 Thymic Squamous Cell Carcinoma NA BeFree Detail
0.121 Testicular Germ Cell Tumor NA BeFree,CTD_human Detail
<0.001 Well Differentiated Pancreatic Endocrine Tumor NA BeFree Detail
<0.001 Epithelioma NA BeFree Detail
<0.001 Oncocytic Neoplasm NA BeFree Detail
<0.001 renal carcinoma NA BeFree Detail
<0.001 Primary Lesion NA BeFree Detail
<0.001 Benign melanocytic nevus NA BeFree Detail
0.123 Mammary Neoplasms NA CTD_human,LHGDN Detail
<0.001 oxyphilic adenoma NA BeFree Detail
<0.001 Secondary Glioblastoma NA BeFree Detail
<0.001 Skin Carcinogenesis NA BeFree Detail
<0.001 Xenograft Model NA BeFree Detail
0.001 colorectal cancer NA BeFree Detail
<0.001 smoldering myeloma NA BeFree Detail
<0.001 hypereosinophilic syndrome NA BeFree Detail
<0.001 adult acute myeloid leukemia with inv(16)(p13;q22) NA BeFree Detail
<0.001 Benign Prostatic Hyperplasia NA BeFree Detail
<0.001 Endometrial Polyp NA BeFree Detail
<0.001 bone sarcoma NA BeFree Detail
<0.001 Uterine Corpus Carcinosarcoma NA BeFree Detail
<0.001 Non-Neoplastic Disorder NA BeFree Detail
<0.001 sinonasal undifferentiated carcinoma NA BeFree Detail
<0.001 MULTICYSTIC RENAL DYSPLASIA, BILATERAL NA BeFree Detail
<0.001 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA NA BeFree Detail
<0.001 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) NA BeFree Detail
<0.001 Myeloproliferative disorder, chronic, with eosinophilia NA BeFree Detail
<0.001 severe congenital neutropenia NA BeFree Detail
0.002 Carney triad NA BeFree Detail
<0.001 Severe Aplastic Anemia NA BeFree Detail
<0.001 uterine corpus cancer We assessed the safety and activity of dovitinib, a potent tyrosine-kinase inhib... BeFree 25981814 Detail
<0.001 plasma cell neoplasm NA BeFree Detail
<0.001 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma NA BeFree Detail
0.002 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
<0.001 Vaginal Melanoma KIT mutations appear to be specific for melanomas of the vulva, suggesting that ... BeFree 24603591 Detail
<0.001 liver carcinoma The c-Kit receptor is regarded as one of the CSC markers in hepatocellular carci... BeFree 26355082 Detail
0.001 benign mastocytoma NA BeFree Detail
<0.001 Merkel Cell Polyomavirus Infection NA BeFree Detail
<0.001 Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement NA BeFree Detail
<0.001 Clear-cell metastatic renal cell carcinoma NA BeFree Detail
<0.001 Gastrointestinal Stromal Sarcoma NA BeFree Detail
<0.001 Primary acquired melanosis NA BeFree Detail
<0.001 Waardenburg syndrome NA BeFree Detail
0.003 myelodysplastic syndrome NA LHGDN Detail
<0.001 Mixed phenotype acute leukemia B/myeloid NA BeFree Detail
<0.001 Triple Negative Breast Neoplasms The three receptor tyrosine kinases c-KIT, VEGFR2 and PDGFRα, closely spaced at ... BeFree 25025175 Detail
<0.001 Allergic disposition NA BeFree Detail
<0.001 Melanocytic nevus of skin NA BeFree Detail
<0.001 Thymus Neoplasms NA BeFree Detail
0.004 core binding factor acute myeloid leukemia Core Binding Factor acute myeloid leukemia (CBF-AML) with t(8;21) RUNX1-MTG8 or ... BeFree 25612891 Detail
<0.001 Congenital Abnormality NA BeFree Detail
<0.001 acromegaly NA BeFree Detail
0.007 adenocarcinoma Treatment of mice with the c-KIT inhibitor imatinib mesylate limited effusion pr... BeFree,LHGDN 25915587 Detail
<0.001 adenoma NA BeFree Detail
0.004 Primary myelofibrosis NA BeFree,LHGDN Detail
<0.001 agranulocytosis NA BeFree Detail
<0.001 Anaplasia NA BeFree Detail
<0.001 anemia NA BeFree Detail
<0.001 aplastic anemia NA BeFree Detail
<0.001 Refractory anemias NA BeFree Detail
<0.001 Refractory anaemia with excess blasts NA BeFree Detail
0.002 Aneuploidy NA GAD Detail
<0.001 asthma NA BeFree Detail
<0.001 Astrocytoma NA BeFree Detail
0.003 azoospermia NA BeFree,GAD Detail
0.002 bipolar disorder NA GAD Detail
<0.001 Blast Phase NA BeFree Detail
<0.001 Brain Neoplasms NA BeFree Detail
0.002 Malignant neoplasm of breast NA BeFree Detail
<0.001 Carcinoid Tumor NA BeFree Detail
<0.001 Malignant tumor of colon Imatinib inhibited growth of KIT(+) colon cancer organoids in culture and growth... BeFree 26026391 Detail
<0.001 Malignant neoplasm of endometrium We assessed the safety and activity of dovitinib, a potent tyrosine-kinase inhib... BeFree 25981814 Detail
<0.001 Rectal Carcinoma NA BeFree Detail
0.003 Noninfiltrating Intraductal Carcinoma NA LHGDN Detail
0.007 Merkel cell carcinoma NA BeFree,LHGDN Detail
0.122 Non-small cell lung carcinoma NA BeFree,CTD_human Detail
<0.001 Carcinoma, Papillary NA BeFree Detail
0.011 renal cell carcinoma NA BeFree,LHGDN Detail
Annotation

Annotations

DescrptionSourceLinks
This prospective study of 127 patients with metastatic gastrointestinal stromal tumors (GISTs) exami... CIViC Evidence Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Maintenance of Clonogenic KIT(+) Human Colon Tumor Cells Requires Secretion of Stem Cell Factor by D... DisGeNET Detail
Patients with KIT-expressing colon tumors can benefit from KIT RTK inhibitors. DisGeNET Detail
NA DisGeNET Detail
We retrieved 27 cases of 1-4-cm-sized adenoid cystic carcinomas (ACCs) arising from the PG (n = 12) ... DisGeNET Detail
Despite a lack of mutations in the KIT gene, CD117 protein expression is associated with unfavorable... DisGeNET Detail
C-kit overexpression correlates with KIT gene copy numbers increases in phyllodes tumors of the brea... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We therefore examined the role of c-kit in autoantigen-induced i.v. tolerance in experimental autoim... DisGeNET Detail
C-Kit and VEGFR2 labeled blood vessels were more abundant in ependymoma than in the other two types ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We find evidence of regional mutational heterogeneity in multiple tumors, including mutations in TP5... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
NA DisGeNET Detail
KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Indeed, deregulating the SCF/c-KIT system by attenuation or overactivation of its signaling strength... DisGeNET Detail
NA DisGeNET Detail
The objective of our study was to analyse c-kit in a large cohort of renal tumors and to perform KIT... DisGeNET Detail
Variable numbers of CD117 positive cells were seen in all leiomyomas. DisGeNET Detail
NA DisGeNET Detail
The 2-year cumulative incidence of relapse (CIR) and leukemia-free survival (LFS) was 32% vs 9% (P 5... DisGeNET Detail
Imatinib mesylate is a chemotherapeutic drug that inhibits the tyrosine kinase activity of c-KIT and... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Chronic mast cell leukemia (MCL) with KIT S476I: a rare entity defined by leukemic expansion of matu... DisGeNET Detail
We found a significant positive correlation between tryptase and C-KIT expression levels in AML pati... DisGeNET Detail
Oncogenic mutations of FLT3 and KIT receptors are associated with poor survival in patients with acu... DisGeNET Detail
As a more complete understanding of kinase networks emerges, it may be possible to define anti-targe... DisGeNET Detail
A KIT inhibitor might be an effective treatment against the forms of AML in which CCDC26 is altered. DisGeNET Detail
Long non-coding RNA HOTAIR modulates c-KIT expression through sponging miR-193a in acute myeloid leu... DisGeNET Detail
As the genetic landscape of AML has been mapped, other attractive targets for therapy have been disc... DisGeNET Detail
Long noncoding RNA, CCDC26, controls myeloid leukemia cell growth through regulation of KIT expressi... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In conclusion, CAMK1D, ALB, KIT, and DDX3Y were chosen as candidate genes, which have the potential ... 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
C-KIT mutations are associatied with several human malignancies, such as gastrointestinal stromal tu... DisGeNET Detail
BRAF, NRAS, and KIT are three well-known oncogenes involved in melanoma pathogenesis. DisGeNET Detail
KIT mutations appear to be specific for melanomas of the vulva, suggesting that in spite of the anat... DisGeNET Detail
Novel somatic KIT exon 8 mutation with dramatic response to imatinib in a patient with mucosal melan... DisGeNET Detail
The prevalence of BRAFV600 and KIT mutations were significantly associated with melanoma subtypes, a... DisGeNET Detail
KIT is a frequent target for epigenetic silencing in cutaneous melanoma. DisGeNET Detail
Driver KIT mutations in melanoma cluster in four hotspots. DisGeNET Detail
IMPORTANCE The KIT receptor is mutated in approximately 15%of acral, mucosal, and chronic, sun-damag... DisGeNET Detail
KIT genetic alterations in anorectal melanomas. DisGeNET Detail
The mutational status of BRAF, RAS, GNAQ, GNA11 and KIT genes in Grey horse melanomas was determined... DisGeNET Detail
KIT in melanoma: many shades of gray. DisGeNET Detail
Metabolic response by FDG-PET to imatinib correlates with exon 11 KIT mutation and predicts outcome ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A multivariate Cox model showed that chromosome 1 abnormalities, age >75 years and a CD19(+)/CD117(-... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Oncogenic mutations of FLT3 and KIT receptors are associated with poor survival in patients with acu... DisGeNET Detail
NA DisGeNET Detail
FGFR3, VEGFR2, and C-KIT levels were associated with decreased risk of metastasis. DisGeNET Detail
We performed molecular characterization of BRAF/NRAS/KIT mutational status in nodal metastases using... DisGeNET Detail
The difference between succinate dehydrogenase subunit A-mutant gastrointestinal stromal tumors and ... DisGeNET Detail
In this study, we conclude that immunohistopathology assays for KIT staining pattern are useful comp... DisGeNET Detail
Functional KIT mutations were demonstrated in 11/31 (35.5%) of AR melanomas and in 1/26 (3.8%) of GI... DisGeNET Detail
Gastrointestinal stromal tumors with exon 8 c-kit gene mutation might occur at extragastric sites an... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In addition, we showed that Prokineticin signaling and mitogen-activated protein kinase pathways are... DisGeNET Detail
NA DisGeNET Detail
The molecular biology of these GIST, originally defined as KIT/PDGFRA wild-type (WT), is complex due... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
It has been experimentally demonstrated that a microRNA, namely miR-193a, targets c-KIT mRNA for deg... 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
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
New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decreas... DisGeNET Detail
Variable numbers of CD117 positive cells were seen in all leiomyomas. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes ... DisGeNET Detail
4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KI... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decreas... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
KIT is a frequent target for epigenetic silencing in cutaneous melanoma. DisGeNET Detail
Until now, KIT has been considered an oncogenic driver and a potential therapeutic target.However, d... DisGeNET Detail
Mast cell exosomes promote lung adenocarcinoma cell proliferation - role of KIT-stem cell factor sig... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We retrieved 27 cases of 1-4-cm-sized adenoid cystic carcinomas (ACCs) arising from the PG (n = 12) ... DisGeNET Detail
Over 90% of all ACCs were grade 1 or 2 and exhibited diffuse (>50%) positivity with CD117, SOX-10, a... DisGeNET Detail
NA DisGeNET Detail
Here, we used NB tumor-initiating cells to reconstitute NB development and demonstrated that c-KIT(+... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The presence of KIT mutations in thymic carcinomas is also well described. 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
Mutually exclusive mutations of KIT and RAS are associated with KIT mRNA expression and chromosomal ... DisGeNET Detail
We therefore postulate that germinomas in the brain share a similar mechanism with other KIT-driven ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Synchronous poorly-differentiated neuroendocrine carcinoma and gastrointestinal stromal tumor of the... 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
CD117 expression in breast phyllodes tumors correlates with adverse pathologic parameters and reduce... DisGeNET Detail
Mast cells or not? - CD117 positive cells in esophageal leiomyoma. DisGeNET Detail
C-KIT mutations are associatied with several human malignancies, such as gastrointestinal stromal tu... DisGeNET Detail
In gastrointestinal stromal tumors (GIST), molecularly targeted therapies, starting with imatinib, a... DisGeNET Detail
Novel therapies targeting multiple components of the integrated KIT receptor signaling pathways in i... DisGeNET Detail
Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract, which ... DisGeNET Detail
In addition, the frequency of ETV1 positivity was higher when compared with KIT [50.0% (9/18) vs 38.... DisGeNET Detail
The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations. DisGeNET Detail
Frequent KIT mutations in human gastrointestinal stromal tumors. DisGeNET Detail
Quadruple wild-type (WT) GIST: defining the subset of GIST that lacks abnormalities of KIT, PDGFRA, ... DisGeNET Detail
Kaplan-Meier curves and log-rank tests were used to compare the survival of patients with succinate ... DisGeNET Detail
Furthermore, SDHB immunohistochemistry alone may be misleading in excluding tumors other than GIST (... DisGeNET Detail
Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-type GIST). DisGeNET Detail
Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in hea... DisGeNET Detail
Categorization of GIST based on KIT genotype and PI3K/PTEN genomic status combined with dose optimiz... DisGeNET Detail
The cnLOH of whole C/CA is a frequent genetic alteration in GISTs and is closely associated with hom... DisGeNET Detail
The diagnosis is confirmed by immunohistochemistry tests that identify CD 117 or DOG1 (typical recep... DisGeNET Detail
There is growing evidence of phenotype-genotype (KIT, platelet-derived growth factor receptor-alpha,... DisGeNET Detail
Novel oncogene and tumor suppressor mutations in KIT and PDGFRA wild type gastrointestinal stromal t... DisGeNET Detail
Crosstalk between KIT and FGFR3 Promotes Gastrointestinal Stromal Tumor Cell Growth and Drug Resista... DisGeNET Detail
KIT and PDGFRA gene mutations are the major genetic alterations seen in gastrointestinal stromal tum... DisGeNET Detail
The immunoreactivity of these cells with CD117 may suggest a diagnosis of GIST, but the presence of ... DisGeNET Detail
There is no standard protocol for addressing the surveillance of patients with spindle-cell type GIS... DisGeNET Detail
SDH-deficient gastrointestinal stromal tumors (dSDH GISTs) collectively manifest similar phenotypes,... DisGeNET Detail
Oncogenic KIT mutations play an important driver role in gastrointestinal stromal tumors, acute myel... DisGeNET Detail
Gastrointestinal stromal tumors with exon 8 c-kit gene mutation might occur at extragastric sites an... DisGeNET Detail
Despite the clinical success of imatinib, which targets KIT, most patients with advanced GIST develo... DisGeNET Detail
GISTs with an identical KIT or PDGFRA mutation may have widely varying risks for recurrence. DisGeNET Detail
The combination of KIT and FGFR inhibition showed increased growth inhibition in imatinib-sensitive ... DisGeNET Detail
This is the first documented case of synchronous gastric GIST and NEC with the examination of protei... DisGeNET Detail
However, there are still 10%-15% of GISTs lacking KIT and PDGFRA mutations, called wild-type GISTs (... DisGeNET Detail
DOG1 is particularly useful in the diagnosis of KIT-negative GIST, including tumors with PDGFRA muta... DisGeNET Detail
Inhibition of KIT-glycosylation by 2-deoxyglucose abrogates KIT-signaling and combination with ABT-2... DisGeNET Detail
However, in 10-15% of all GIST, no such activating mutations can be found and these tumors are class... DisGeNET Detail
Pharmacological Inhibition of KIT Activates MET Signaling in Gastrointestinal Stromal Tumors. DisGeNET Detail
Platelet-Derived Growth Factor Receptor-α Regulates Proliferation of Gastrointestinal Stromal Tumor ... DisGeNET Detail
Most mechanistic studies dealing with GIST mutations have focused on c-KIT and far less is known abo... DisGeNET Detail
We obtained 53.7% of mutations in exon 11 and 7.4% in exon 9 of c-KIT gene; 12% in exon 18 and 1.9% ... DisGeNET Detail
With a sensitivity level of down to 0.02%, no pre-existing resistant subclones with secondary KIT mu... DisGeNET Detail
Mutation was a significant prognostic indicator of overall survival in naive, localized GISTs (P<0.0... DisGeNET Detail
Secondary mutations were detectable mainly in KIT exon 11 mutant GISTs after prolonged initial clini... DisGeNET Detail
Notably, ETV1 was positive in 15 of 26 (58 %) KIT-negative GISTs and even positive in 2 cases of GIS... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The DNA Methyltransferase DNMT1 and Tyrosine-Protein Kinase KIT Cooperatively Promote Resistance to ... DisGeNET Detail
In conclusion, MRD monitoring early after transplant allows further rapid identification of t(8;21) ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Characterization of S628N: a novel KIT mutation found in a metastatic melanoma. DisGeNET Detail
The rate of functional mutations in KIT is significantly higher in AR MM than in GI metastatic melan... DisGeNET Detail
Baseline and 4-week follow-up 18F-FDG-PET/CT were evaluated in 17 patients with metastatic melanoma ... DisGeNET Detail
NA DisGeNET Detail
GISTs may originate from the interstitial cells of Cajal (ICCs) because the development of ICCs is d... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Somatic exon 8 KIT mutations have not been previously reported in mucosal melanoma or in other human... DisGeNET Detail
Imatinib mesylate is a chemotherapeutic drug that inhibits the tyrosine kinase activity of c-KIT and... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We find evidence of regional mutational heterogeneity in multiple tumors, including mutations in TP5... DisGeNET Detail
Somatic exon 8 KIT mutations have not been previously reported in mucosal melanoma or in other human... DisGeNET Detail
Diagnostic procedures for improving of the KIT (CD117) expressed allele burden for the liver metasta... DisGeNET Detail
KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Cultured JMML CD34(+)CD38(-) cells expressed CD117, CD116, c-mpl, CD123, CD90, but not CXCR4, and fo... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We assessed the safety and activity of dovitinib, a potent tyrosine-kinase inhibitor of fibroblast g... DisGeNET Detail
Diagnostic procedures for improving of the KIT (CD117) expressed allele burden for the liver metasta... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
On the other hand, the fine regulation of tissue homeostasis by mechanisms that control cell fate is... DisGeNET Detail
Mutated KIT and platelet-derived growth factor alpha gene (PDGFRA) drive GI stromal tumor (GIST) onc... DisGeNET Detail
KIT appears to be necessary to stabilize ETV1, and ETV1 then activates oncogenesis-associated genes. DisGeNET Detail
Regulation of Stat5 by FAK and PAK1 in Oncogenic FLT3- and KIT-Driven Leukemogenesis. DisGeNET Detail
We demonstrated that c-kit expression in the stroma of PTs is positively associated with malignancy.... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia v... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia v... DisGeNET Detail
NA DisGeNET Detail
The DNA Methyltransferase DNMT1 and Tyrosine-Protein Kinase KIT Cooperatively Promote Resistance to ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Imatinib inhibited growth of KIT(+) colon cancer organoids in culture and growth of xenograft tumors... DisGeNET Detail
NA DisGeNET Detail
In addition, we showed that Prokineticin signaling and mitogen-activated protein kinase pathways are... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Clinically active investigational FLT3 inhibitors can achieve complete remissions but their utility ... DisGeNET Detail
Mutually exclusive mutations of KIT and RAS are associated with KIT mRNA expression and chromosomal ... DisGeNET Detail
We therefore postulate that germinomas in the brain share a similar mechanism with other KIT-driven ... DisGeNET Detail
NA DisGeNET Detail
Moreover, multiple consistent observations reported TGCC to be associated with KIT-KITL mediated rec... DisGeNET Detail
KIT and PDGFRA mutations and the risk of GI stromal tumor recurrence. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
It has been experimentally demonstrated that a microRNA, namely miR-193a, targets c-KIT mRNA for deg... DisGeNET Detail
Gastrointestinal stromal tumors (GIST) are the most common adult sarcomas and the oncogenic driver i... DisGeNET Detail
Gastrointestinal stromal tumors are sarcomas of the digestive tract characterized by mutations mainl... DisGeNET Detail
To gain better insight into clinical characteristics, we compared these cases with 31 additional and... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Furthermore, SDHB immunohistochemistry alone may be misleading in excluding tumors other than GIST (... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Oncogenic mutations of FLT3 and KIT receptors are associated with poor survival in patients with acu... DisGeNET Detail
NA DisGeNET Detail
The presence of KIT mutations in thymic carcinomas is also well described. DisGeNET Detail
NA DisGeNET Detail
Whereas a number of mutations have been identified in primary melanoma, including BRAF, NRAS, GNAQ, ... DisGeNET Detail
NA DisGeNET Detail
Synchronous poorly-differentiated neuroendocrine carcinoma and gastrointestinal stromal tumor of the... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract, which ... DisGeNET Detail
To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics... DisGeNET Detail
The discovery of KIT gene mutation in gastrointestinal stromal tumor (GIST) has provided a paradigm ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
There is no standard protocol for addressing the surveillance of patients with spindle-cell type GIS... 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
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
We assessed the safety and activity of dovitinib, a potent tyrosine-kinase inhibitor of fibroblast g... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
KIT mutations appear to be specific for melanomas of the vulva, suggesting that in spite of the anat... DisGeNET Detail
The c-Kit receptor is regarded as one of the CSC markers in hepatocellular carcinoma (HCC). 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 three receptor tyrosine kinases c-KIT, VEGFR2 and PDGFRα, closely spaced at 4q12, show increased... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Core Binding Factor acute myeloid leukemia (CBF-AML) with t(8;21) RUNX1-MTG8 or inv(16) CBFB-MYH11 f... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Treatment of mice with the c-KIT inhibitor imatinib mesylate limited effusion precipitation by mouse... 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
Imatinib inhibited growth of KIT(+) colon cancer organoids in culture and growth of xenograft tumors... DisGeNET Detail
We assessed the safety and activity of dovitinib, a potent tyrosine-kinase inhibitor of fibroblast g... 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
rs28933968 dbSNP
Genome
hg38
Position
chr4:54,657,267-54,740,783
Variant Type
snv
Variant (CIViC) (CIViC Variant)
EXON 8 MUTATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/855
Variant (CIViC) (CIViC Variant)
EXON 13 MUTATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2643
Genome browser