chr4:54229280:> Detail (hg38) (PDGFRA)

Information

Genome

Assembly Position
hg19 chr4:55,095,447-55,164,412 
hg38 chr4:54,229,280-54,298,245

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 Does Not Support Sensitivity/Response Somatic 1 18955451 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 carcinosarcoma NA BeFree Detail
0.002 Uterine Cervical Neoplasm NA GAD Detail
<0.001 Congenital chromosomal disease Examination for the common eosinophilia-related cytogenetic abnormalities involv... BeFree 25962659 Detail
<0.001 Congenital chromosomal disease We identified a novel fusion gene, FOXP1-PDGFRA, in a patient with myeloprolifer... BeFree 26319757 Detail
0.120 cleft palate NA BeFree,CTD_human Detail
<0.001 colorectal carcinoma NA BeFree Detail
0.003 Colorectal Neoplasms NA LHGDN Detail
0.003 craniosynostosis NA BeFree,LHGDN Detail
<0.001 Phyllodes Tumor NA BeFree Detail
<0.001 Cytomegalovirus Infections NA BeFree Detail
<0.001 Muscular Dystrophy, Duchenne NA BeFree Detail
<0.001 endometriosis NA BeFree Detail
0.011 Eosinophilia To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree,LHGDN 24813417 Detail
0.011 Eosinophilia We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q... BeFree,LHGDN 26095243 Detail
0.011 Eosinophilia A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophili... BeFree,LHGDN 26319757 Detail
<0.001 Ependymoma NA BeFree Detail
<0.001 fetal alcohol syndrome NA BeFree Detail
0.120 Fetal Death NA CTD_human Detail
0.003 Fibrosis NA LHGDN Detail
<0.001 Gastrointestinal Neoplasms NA BeFree Detail
0.013 glioblastoma The extrachromosomal nature of ALEMs explains the observed drastic changes in th... BeFree,GAD,LHGDN 25471132 Detail
0.013 glioblastoma We find evidence of regional mutational heterogeneity in multiple tumors, includ... BeFree,GAD,LHGDN 25608559 Detail
0.011 Glioma Ganglioside GD3 Enhances Invasiveness of Gliomas by Forming a Complex with Plate... BeFree,LHGDN 25940087 Detail
0.011 Glioma We specifically demonstrate that loss of CTCF at a domain boundary permits a con... BeFree,LHGDN 26700815 Detail
<0.001 Hematological Disease NA BeFree Detail
0.003 Diaphragmatic hernia NA LHGDN Detail
<0.001 Histiocytosis, Langerhans-Cell NA BeFree Detail
0.003 Hodgkin Disease NA LHGDN Detail
0.002 Hyperparathyroidism, Secondary NA GAD Detail
<0.001 Intestinal Neoplasms NA BeFree Detail
0.001 Fibroid Tumor To evaluate possible diagnostic utility of SDHB immunohistochemistry in the diff... BeFree 25205505 Detail
<0.001 leiomyosarcoma To evaluate possible diagnostic utility of SDHB immunohistochemistry in the diff... BeFree 25205505 Detail
0.004 leukemia NA BeFree,LHGDN Detail
0.002 chronic lymphocytic leukemia NA GAD Detail
<0.001 lymphoid leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
0.004 Leukemia, Myelocytic, Acute NA BeFree,LHGDN Detail
0.002 myeloid leukemia NA GAD Detail
0.003 Myeloid Leukemia, Chronic To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
<0.001 Leukemia, Myelomonocytic, Chronic NA BeFree Detail
<0.001 Liver diseases NA BeFree Detail
0.003 Liver neoplasms Similarly, an in vivo assay showed that PDGFRα overexpression in hepatoma cells ... BeFree,GAD 25333264 Detail
0.003 Liver neoplasms PDE5 and PDGFRα/β were over-expressed in liver tumors compared to normal liver t... BeFree,GAD 25704960 Detail
0.120 Lung diseases NA CTD_human Detail
0.003 Lung Neoplasms NA LHGDN Detail
<0.001 lupus nephritis NA BeFree Detail
0.002 Lymphatic Metastasis NA GAD Detail
0.006 lymphoma NA BeFree,LHGDN Detail
<0.001 Malignant neoplasm of stomach NA BeFree Detail
0.001 mastocytosis NA BeFree Detail
0.124 medulloblastoma Here, we report the subgroup specific expression of PDGFRα and PDGFRβ and their ... BeFree,CTD_human,LHGDN 25576913 Detail
0.002 melanoma NA BeFree Detail
<0.001 meningioma NA BeFree Detail
0.003 Meningomyelocele NA BeFree,LHGDN Detail
0.003 Mixed Salivary Gland Tumor NA LHGDN Detail
0.008 Myeloproliferative disease This study also found losses at 11q13.3 in 26% of patients with MPN-Ph- and in 1... BeFree,LHGDN 24813417 Detail
0.008 Myeloproliferative disease A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophili... BeFree,LHGDN 26319757 Detail
0.009 Neoplasm Metastasis Nuclear FGFR2 expression was associated with increased risk of metastasis (odds ... BeFree,LHGDN 24390213 Detail
0.009 Neoplasm Metastasis The difference between succinate dehydrogenase subunit A-mutant gastrointestinal... BeFree,LHGDN 25188872 Detail
0.009 Neoplasm Metastasis Metastatic tumors more frequently overexpressed PDGFR-α compared to localized tu... BeFree,LHGDN 25976141 Detail
0.009 Neoplasm Metastasis PDGFRA, CAV1, and GJA-1 were revealed as key node genes for cervical cancer inva... BeFree,LHGDN 26189259 Detail
0.002 Neoplasm Recurrence, Local NA GAD Detail
0.007 Neural Tube Defects NA GAD,LHGDN Detail
0.001 neurofibroma NA BeFree Detail
0.002 neurofibromatosis 1 The molecular biology of these GIST, originally defined as KIT/PDGFRA wild-type ... BeFree 25239601 Detail
0.002 neurofibromatosis 1 Furthermore, KIT/PDGFRA wt-GIST are observed in the context of hereditary syndro... BeFree 25831232 Detail
0.001 oligodendroglioma NA BeFree Detail
<0.001 Degenerative polyarthritis NA BeFree Detail
<0.001 osteosarcoma NA BeFree Detail
<0.001 ovarian carcinoma NA BeFree Detail
0.002 Pancreatic Neoplasm NA GAD Detail
<0.001 polyps NA BeFree Detail
0.003 Prostatic Neoplasms NA LHGDN Detail
0.120 Congenital abnormality of respiratory system NA CTD_human Detail
<0.001 rhabdomyosarcoma NA BeFree Detail
<0.001 systemic scleroderma NA BeFree Detail
0.080 Skin Ulcer NA RGD Detail
0.001 Stomach Neoplasms NA BeFree Detail
<0.001 gastric ulcer NA BeFree Detail
0.080 Cerebrovascular accident NA RGD Detail
<0.001 synovial sarcoma To evaluate possible diagnostic utility of SDHB immunohistochemistry in the diff... BeFree 25205505 Detail
0.002 Tobacco use disorder NA GAD Detail
<0.001 urticaria pigmentosa NA BeFree Detail
<0.001 Uterine Fibroids To evaluate possible diagnostic utility of SDHB immunohistochemistry in the diff... BeFree 25205505 Detail
0.005 vitiligo NA BeFree,GAD Detail
<0.001 T-Cell Lymphoma NA BeFree Detail
<0.001 peripheral T-cell lymphoma NA BeFree Detail
0.080 oligohydramnios NA RGD Detail
0.126 spina bifida NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 severe combined immunodeficiency NA BeFree Detail
<0.001 acute leukemia NA BeFree Detail
<0.001 Codependency NA BeFree Detail
0.002 Small cell carcinoma of lung NA BeFree Detail
<0.001 Granulocytic Sarcoma NA BeFree Detail
<0.001 uterine cancer NA BeFree Detail
<0.001 Neurofibromatoses NA BeFree Detail
0.001 Tumor Progression Overexpression of platelet-derived growth factor receptor alpha promotes tumor p... BeFree 25333264 Detail
<0.001 myxopapillary ependymoma NA BeFree Detail
<0.001 Eosinophilic leukemia NA BeFree Detail
<0.001 Lymphomatoid Papulosis NA BeFree Detail
<0.001 adenosquamous carcinoma NA BeFree Detail
0.003 endometrial stromal sarcoma To evaluate possible diagnostic utility of SDHB immunohistochemistry in the diff... BeFree,LHGDN 25205505 Detail
0.120 Chondrosarcoma, Mesenchymal NA CTD_human Detail
0.003 alveolar rhabdomyosarcoma NA BeFree,LHGDN Detail
<0.001 embryonal carcinoma NA BeFree Detail
<0.001 Neuroectodermal Tumor, Primitive NA BeFree Detail
<0.001 Carcinoma, Neuroendocrine Synchronous poorly-differentiated neuroendocrine carcinoma and gastrointestinal ... BeFree 25674291 Detail
<0.001 cholangiocarcinoma NA BeFree Detail
<0.001 subependymal glioma NA BeFree Detail
0.003 gliosarcoma NA BeFree,LHGDN Detail
0.003 Nerve Sheath Tumors NA BeFree,LHGDN Detail
<0.001 plexiform neurofibroma NA BeFree Detail
<0.001 Neuroendocrine Tumors NA BeFree Detail
0.007 Mastocytosis, Systemic NA BeFree,LHGDN Detail
0.080 congenital diaphragmatic hernia NA MGD Detail
<0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Leiomyoma of esophagus NA BeFree Detail
0.616 Gastrointestinal Stromal Tumors We therefore consider imatinib mesylate an appropriate therapy for c- kit negati... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 24635438 Detail
0.616 Gastrointestinal Stromal Tumors In gastrointestinal stromal tumors (GIST), molecularly targeted therapies, start... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 24727986 Detail
0.616 Gastrointestinal Stromal Tumors Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointe... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 24802226 Detail
0.616 Gastrointestinal Stromal Tumors Approximately 7.5% of gastric gastrointestinal stromal tumors are SDH-deficient ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 24886695 Detail
0.616 Gastrointestinal Stromal Tumors The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA m... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25027296 Detail
0.616 Gastrointestinal Stromal Tumors We propose that these KIT/PDGFRA/SDH/RAS-P WT GIST tumors be designated as quadr... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25165019 Detail
0.616 Gastrointestinal Stromal Tumors Patients with metastatic KIT/PDGFRA wild-type succinate dehydrogenase-deficient ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25188872 Detail
0.616 Gastrointestinal Stromal Tumors Furthermore, SDHB immunohistochemistry alone may be misleading in excluding tumo... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25205505 Detail
0.616 Gastrointestinal Stromal Tumors Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-t... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25239601 Detail
0.616 Gastrointestinal Stromal Tumors There is growing evidence of phenotype-genotype (KIT, platelet-derived growth fa... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25414046 Detail
0.616 Gastrointestinal Stromal Tumors Novel oncogene and tumor suppressor mutations in KIT and PDGFRA wild type gastro... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25427437 Detail
0.616 Gastrointestinal Stromal Tumors In the current study, we set out to explore the frequency and distribution patte... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25481675 Detail
0.616 Gastrointestinal Stromal Tumors SDH-deficient gastrointestinal stromal tumors (dSDH GISTs) collectively manifest... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25540324 Detail
0.616 Gastrointestinal Stromal Tumors Activating mutations in either KIT or PDGFRA are present in approximately 90% of... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25673643 Detail
0.616 Gastrointestinal Stromal Tumors This is the first documented case of synchronous gastric GIST and NEC with the e... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25674291 Detail
0.616 Gastrointestinal Stromal Tumors Classification of KIT/PDGFRA wild-type gastrointestinal stromal tumors: implicat... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25831232 Detail
0.616 Gastrointestinal Stromal Tumors Gastrointestinal stromal tumors (GIST) are the most common adult sarcomas and th... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25836719 Detail
0.616 Gastrointestinal Stromal Tumors Platelet-Derived Growth Factor Receptor-α Regulates Proliferation of Gastrointes... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25865047 Detail
0.616 Gastrointestinal Stromal Tumors Gastrointestinal stromal tumours (GIST) are mainly characterised by the presence... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25880691 Detail
0.616 Gastrointestinal Stromal Tumors Mutation was a significant prognostic indicator of overall survival in naive, lo... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 25970686 Detail
0.616 Gastrointestinal Stromal Tumors Gastrointestinal stromal tumors (GISTs) develop from interstitial cells of Cajal... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT 26243012 Detail
<0.001 Papillary thyroid carcinoma NA BeFree Detail
<0.001 Fibrosis, Liver Studies elucidating PDGFRα signaling in processes ranging from profibrotic signa... BeFree 25700367 Detail
0.080 Hyperoxia NA RGD Detail
<0.001 mixed gliomas NA BeFree Detail
<0.001 Polyp of gallbladder NA BeFree Detail
0.002 Carcinoma, Small Cell NA BeFree Detail
<0.001 Metastatic melanoma NA BeFree Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma Studies elucidating PDGFRα signaling in processes ranging from profibrotic signa... BeFree 25700367 Detail
<0.001 Solid tumour NA BeFree Detail
<0.001 Eosinophilic granulomatous polyp NA BeFree Detail
<0.001 inflammatory myofibroblastic tumor To evaluate possible diagnostic utility of SDHB immunohistochemistry in the diff... BeFree 25205505 Detail
<0.001 anaplastic astrocytoma NA BeFree Detail
<0.001 anaplastic oligodendroglioma We find evidence of regional mutational heterogeneity in multiple tumors, includ... BeFree 25608559 Detail
<0.001 uterine corpus sarcoma NA BeFree Detail
0.121 Regular astigmatism - corneal NA BeFree,GWASCAT Detail
<0.001 Chronic liver disease NA BeFree Detail
<0.001 Malignant neoplasm of liver Studies elucidating PDGFRα signaling in processes ranging from profibrotic signa... BeFree 25700367 Detail
<0.001 cervical adenosquamous carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of pancreas NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 Hematopoietic Neoplasms NA BeFree Detail
<0.001 Hematologic Neoplasms NA BeFree Detail
0.120 Craniofacial Abnormalities NA CTD_human Detail
<0.001 dermatofibrosarcoma protuberans NA BeFree Detail
<0.001 Skeletal dysplasia NA BeFree Detail
<0.001 Chromosome 8, trisomy NA BeFree Detail
<0.001 Secondary malignant neoplasm of liver NA BeFree Detail
<0.001 Recurrent tumor NA BeFree Detail
<0.001 Malignant glioma NA BeFree Detail
<0.001 Osteosarcoma of bone NA BeFree Detail
0.002 Carcinogenesis NA BeFree Detail
<0.001 prostate carcinoma NA BeFree Detail
<0.001 Epithelial ovarian cancer NA BeFree Detail
<0.001 Refractory cancer NA BeFree Detail
<0.001 breast carcinoma NA BeFree Detail
0.002 Malignant neoplasm of gastrointestinal tract NA GAD Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
<0.001 stomach carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
0.003 Hypereosinophilia NA BeFree Detail
<0.001 Brain Tumor, Primary NA BeFree Detail
0.001 Well Differentiated Oligodendroglioma NA BeFree Detail
<0.001 malignant peripheral nerve sheath tumor NA BeFree Detail
0.001 Rhabdoid Tumor of the Kidney We found that decreased miR-218 expression in GBM cells also increased the expre... BeFree 25943352 Detail
0.006 ovarian neoplasm NA BeFree,LHGDN Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
0.002 sarcoma NA BeFree Detail
<0.001 Lymphocytic infiltration NA BeFree Detail
<0.001 large cell neuroendocrine carcinoma NA BeFree Detail
<0.001 Solitary fibrous tumor Furthermore, SDHB immunohistochemistry alone may be misleading in excluding tumo... BeFree 25205505 Detail
<0.001 Disorder of skull NA BeFree Detail
<0.001 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative NA BeFree Detail
0.002 Chronic myeloproliferative disorder This study also found losses at 11q13.3 in 26% of patients with MPN-Ph- and in 1... BeFree 24813417 Detail
0.002 Chronic myeloproliferative disorder A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophili... BeFree 26319757 Detail
<0.001 Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma BCR-PDGFRA fusion in a T lymphoblastic leukemia/lymphoma. BeFree 26095243 Detail
0.009 Eosinophilic disorder To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
0.009 Eosinophilic disorder We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q... BeFree 26095243 Detail
0.009 Eosinophilic disorder A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophili... BeFree 26319757 Detail
0.001 Gastric Gastrointestinal Stromal Tumor Synchronous poorly-differentiated neuroendocrine carcinoma and gastrointestinal ... BeFree 25674291 Detail
0.001 mesenchymal cell neoplasm Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointe... BeFree 24802226 Detail
0.001 mesenchymal cell neoplasm Furthermore, SDHB immunohistochemistry alone may be misleading in excluding tumo... BeFree 25205505 Detail
<0.001 Testicular Germ Cell Tumor We reveal possible drivers of TGCT pathogenesis, such as mutated PDGFRA, potenti... BeFree 25748235 Detail
0.006 Mammary Neoplasms NA BeFree,LHGDN Detail
<0.001 Hepatocarcinogenesis We and others have examined that upregulation of PDGFRα might be involved in hep... BeFree 25333264 Detail
<0.001 Primary Glioblastoma NA BeFree Detail
<0.001 Secondary Glioblastoma NA BeFree Detail
<0.001 Xenograft Model NA BeFree Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Glioblastoma multiforme NA BeFree Detail
0.008 Disorder characterized by eosinophilia To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
0.008 Disorder characterized by eosinophilia We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q... BeFree 26095243 Detail
0.008 Disorder characterized by eosinophilia A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophili... BeFree 26319757 Detail
<0.001 bone sarcoma NA BeFree Detail
<0.001 Intimal sarcoma 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 lateral meningocele syndrome To evaluate possible diagnostic utility of SDHB immunohistochemistry in the diff... BeFree 25205505 Detail
0.002 Carney triad NA BeFree Detail
<0.001 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q... BeFree 26095243 Detail
0.003 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree,LHGDN Detail
0.001 liver carcinoma Overexpression of platelet-derived growth factor receptor alpha promotes tumor p... BeFree 25333264 Detail
0.001 myeloid neoplasm To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
<0.001 Fetal Alcohol Spectrum Disorders 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 Triple Negative Breast Neoplasms C-kit and PDGFRA gene mutations in triple negative breast cancer. BeFree 25120810 Detail
0.003 Infection NA LHGDN Detail
0.120 Leukemia, acute lymphoblastic, susceptibility to, 3 NA ORPHANET Detail
<0.001 Proneural Glioblastoma NA BeFree Detail
<0.001 adenocarcinoma NA BeFree Detail
0.002 Alzheimer's disease NA GAD Detail
0.002 Aneuploidy NA GAD Detail
<0.001 rheumatoid arthritis NA BeFree Detail
0.003 asthma NA BeFree,GAD Detail
0.002 astigmatism NA GAD Detail
0.007 Astrocytoma NA BeFree,LHGDN Detail
0.002 atherosclerosis NA GAD Detail
0.002 bipolar disorder NA GAD Detail
<0.001 Malignant neoplasm of urinary bladder NA BeFree Detail
<0.001 borderline personality disorder NA BeFree Detail
0.003 Brain Neoplasms NA BeFree,GAD Detail
<0.001 Malignant neoplasm of breast NA BeFree Detail
<0.001 bronchopulmonary dysplasia NA BeFree Detail
0.003 Carcinoid Tumor NA BeFree,LHGDN Detail
0.004 Merkel cell carcinoma NA BeFree,LHGDN Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
These four patients were part of a larger cohort of 397 patients with incurable (i.e. metastatic or ... CIViC Evidence Detail
NA DisGeNET Detail
NA DisGeNET Detail
Examination for the common eosinophilia-related cytogenetic abnormalities involving the genes PDGFRA... DisGeNET Detail
We identified a novel fusion gene, FOXP1-PDGFRA, in a patient with myeloproliferative neoplasm (MPN)... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q11.2) involving the ... DisGeNET Detail
A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophilia. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The extrachromosomal nature of ALEMs explains the observed drastic changes in the amounts of mutated... DisGeNET Detail
We find evidence of regional mutational heterogeneity in multiple tumors, including mutations in TP5... DisGeNET Detail
Ganglioside GD3 Enhances Invasiveness of Gliomas by Forming a Complex with Platelet-derived Growth F... DisGeNET Detail
We specifically demonstrate that loss of CTCF at a domain boundary permits a constitutive enhancer t... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics... 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
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NA DisGeNET Detail
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To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Similarly, an in vivo assay showed that PDGFRα overexpression in hepatoma cells exhibited remarkably... DisGeNET Detail
PDE5 and PDGFRα/β were over-expressed in liver tumors compared to normal liver tissue. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Here, we report the subgroup specific expression of PDGFRα and PDGFRβ and their associated biologica... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This study also found losses at 11q13.3 in 26% of patients with MPN-Ph- and in 19p13.11 in two of th... DisGeNET Detail
A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophilia. DisGeNET Detail
Nuclear FGFR2 expression was associated with increased risk of metastasis (odds ratio (OR)=7.61, P=0... DisGeNET Detail
The difference between succinate dehydrogenase subunit A-mutant gastrointestinal stromal tumors and ... DisGeNET Detail
Metastatic tumors more frequently overexpressed PDGFR-α compared to localized tumors (75% versus 31%... DisGeNET Detail
PDGFRA, CAV1, and GJA-1 were revealed as key node genes for cervical cancer invasion and metastasis. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The molecular biology of these GIST, originally defined as KIT/PDGFRA wild-type (WT), is complex due... DisGeNET Detail
Furthermore, KIT/PDGFRA wt-GIST are observed in the context of hereditary syndromes, such as neurofi... DisGeNET Detail
NA DisGeNET Detail
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To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics... DisGeNET Detail
NA DisGeNET Detail
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To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics... DisGeNET Detail
NA DisGeNET Detail
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Overexpression of platelet-derived growth factor receptor alpha promotes tumor progression and indic... DisGeNET Detail
NA DisGeNET Detail
NA 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
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
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We therefore consider imatinib mesylate an appropriate therapy for c- kit negative GIST bearing PDGF... DisGeNET Detail
In gastrointestinal stromal tumors (GIST), molecularly targeted therapies, starting with imatinib, a... DisGeNET Detail
Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract, which ... DisGeNET Detail
Approximately 7.5% of gastric gastrointestinal stromal tumors are SDH-deficient and not driven by KI... DisGeNET Detail
The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations. DisGeNET Detail
We propose that these KIT/PDGFRA/SDH/RAS-P WT GIST tumors be designated as quadruple wild-type (WT) ... DisGeNET Detail
Patients with metastatic KIT/PDGFRA wild-type succinate dehydrogenase-deficient gastrointestinal str... 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
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
In the current study, we set out to explore the frequency and distribution pattern of c-KIT (exons 9... DisGeNET Detail
SDH-deficient gastrointestinal stromal tumors (dSDH GISTs) collectively manifest similar phenotypes,... DisGeNET Detail
Activating mutations in either KIT or PDGFRA are present in approximately 90% of gastrointestinal st... DisGeNET Detail
This is the first documented case of synchronous gastric GIST and NEC with the examination of protei... DisGeNET Detail
Classification of KIT/PDGFRA wild-type gastrointestinal stromal tumors: implications for therapy. DisGeNET Detail
Gastrointestinal stromal tumors (GIST) are the most common adult sarcomas and the oncogenic driver i... DisGeNET Detail
Platelet-Derived Growth Factor Receptor-α Regulates Proliferation of Gastrointestinal Stromal Tumor ... DisGeNET Detail
Gastrointestinal stromal tumours (GIST) are mainly characterised by the presence of activating mutat... DisGeNET Detail
Mutation was a significant prognostic indicator of overall survival in naive, localized GISTs (P<0.0... DisGeNET Detail
Gastrointestinal stromal tumors (GISTs) develop from interstitial cells of Cajal (ICCs) mainly by ac... DisGeNET Detail
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Studies elucidating PDGFRα signaling in processes ranging from profibrotic signaling, angiogenesis, ... DisGeNET Detail
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Studies elucidating PDGFRα signaling in processes ranging from profibrotic signaling, angiogenesis, ... DisGeNET Detail
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To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics... DisGeNET Detail
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We find evidence of regional mutational heterogeneity in multiple tumors, including mutations in TP5... DisGeNET Detail
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Studies elucidating PDGFRα signaling in processes ranging from profibrotic signaling, angiogenesis, ... DisGeNET Detail
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We found that decreased miR-218 expression in GBM cells also increased the expression of genes encod... DisGeNET Detail
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Furthermore, SDHB immunohistochemistry alone may be misleading in excluding tumors other than GIST (... DisGeNET Detail
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This study also found losses at 11q13.3 in 26% of patients with MPN-Ph- and in 19p13.11 in two of th... DisGeNET Detail
A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophilia. DisGeNET Detail
BCR-PDGFRA fusion in a T lymphoblastic leukemia/lymphoma. DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q11.2) involving the ... DisGeNET Detail
A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophilia. DisGeNET Detail
Synchronous poorly-differentiated neuroendocrine carcinoma and gastrointestinal stromal tumor of the... DisGeNET Detail
Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract, which ... DisGeNET Detail
Furthermore, SDHB immunohistochemistry alone may be misleading in excluding tumors other than GIST (... DisGeNET Detail
We reveal possible drivers of TGCT pathogenesis, such as mutated PDGFRA, potentially with therapeuti... DisGeNET Detail
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We and others have examined that upregulation of PDGFRα might be involved in hepatocarcinogenesis. DisGeNET Detail
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To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q11.2) involving the ... DisGeNET Detail
A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophilia. DisGeNET Detail
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To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics... DisGeNET Detail
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We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q11.2) involving the ... DisGeNET Detail
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Overexpression of platelet-derived growth factor receptor alpha promotes tumor progression and indic... DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
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The three receptor tyrosine kinases c-KIT, VEGFR2 and PDGFRα, closely spaced at 4q12, show increased... DisGeNET Detail
C-kit and PDGFRA gene mutations in triple negative breast cancer. DisGeNET Detail
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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
-
Genome
hg38
Position
chr4:54,229,280-54,298,245
Variant Type
snv
Variant (CIViC) (CIViC Variant)
DIM842_844DEL
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1518
Variant (CIViC) (CIViC Variant)
EXON 18 MUTATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2623
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