chr7:100318091:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr7:100,318,091-100,321,323
hg38 chr7:100,720,468-100,723,700 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 squamous cell carcinoma Human tumours from oral squamous cell cancer were xenotransplanted to nude mice ... BeFree,LHGDN 25182342 Detail
0.004 Cardiovascular Diseases However, until now only a handful number of genetic variants were reported to be... BeFree,LHGDN 25169573 Detail
0.120 CNS disorder NA BeFree,CTD_human Detail
<0.001 cerebral infarction NA BeFree Detail
0.003 brain ischemia NA BeFree,LHGDN Detail
0.080 Transient ischemic attack NA RGD Detail
<0.001 Malignant tumor of cervix NA BeFree Detail
0.120 Cognition Disorders NA CTD_human Detail
<0.001 colorectal carcinoma NA BeFree Detail
<0.001 cystic fibrosis NA BeFree Detail
0.003 Cyst NA BeFree,LHGDN Detail
<0.001 Dehydration NA BeFree Detail
0.080 Dementia, Vascular NA RGD Detail
0.002 Dermatitis, Atopic NA GAD Detail
0.002 Diabetes However, until now only a handful number of genetic variants were reported to be... BeFree 25169573 Detail
0.002 diabetes mellitus However, until now only a handful number of genetic variants were reported to be... BeFree 25169573 Detail
0.002 Diabetes Mellitus, Insulin-Dependent NA GAD Detail
0.006 Diabetes Mellitus, Non-Insulin-Dependent The EPO genotype in Chinese patients with type 2 diabetes is associated with ane... BeFree,GAD 25656761 Detail
0.003 Diabetic Nephropathy Genetic variants in angiotensin-converting enzyme (ACE), tumor necrosis factor-a... BeFree,GAD 25656761 Detail
0.013 diabetic retinopathy NA BeFree,GAD,LHGDN Detail
<0.001 Drug abuse NA BeFree Detail
0.121 Experimental Autoimmune Encephalomyelitis NA BeFree,CTD_human Detail
0.003 Endometrial Neoplasms NA LHGDN Detail
0.003 endometriosis NA LHGDN Detail
<0.001 Ependymoma NA BeFree Detail
<0.001 Hyperplasia erythroid NA BeFree Detail
<0.001 Fanconi anemia NA BeFree Detail
0.120 Fatigue NA BeFree,CTD_human Detail
<0.001 Fatty Liver The loss of all PHD isoforms results in both polycythemia, which is caused by Ep... BeFree 26012551 Detail
0.080 Fetal Distress NA RGD Detail
0.005 Fibrosis NA LHGDN Detail
<0.001 Friedreich ataxia NA BeFree Detail
0.003 Glaucoma, Open-Angle NA LHGDN Detail
0.001 glioblastoma Therefore, pEpo-NI2-SV-HSVtk/PEI-Dexa complex may be useful for glioblastoma-spe... BeFree 24467192 Detail
0.001 Glioma It has been recently reported that erythropoietin (EPO) and its receptor (EPOR) ... BeFree 25544764 Detail
0.002 Hay fever NA GAD Detail
0.003 Head and Neck Neoplasms NA LHGDN Detail
0.121 Heart Diseases NA BeFree,CTD_human Detail
<0.001 Heart failure NA BeFree Detail
<0.001 congestive heart failure NA BeFree Detail
0.120 Ventricular Septal Defects NA CTD_human Detail
<0.001 hemochromatosis NA BeFree Detail
<0.001 Hemoglobinopathies NA BeFree Detail
0.120 hemolytic-uremic syndrome NA CTD_human Detail
<0.001 hepatitis NA BeFree Detail
<0.001 hepatitis A NA BeFree Detail
<0.001 Hepatitis, Chronic NA BeFree Detail
0.001 hepatitis C NA BeFree Detail
<0.001 Herpes Simplex Infections NA BeFree Detail
0.002 Von Hippel-Lindau syndrome NA BeFree Detail
0.001 HIV Infections NA BeFree Detail
<0.001 Hodgkin Disease NA BeFree Detail
<0.001 Huntington disease NA BeFree Detail
<0.001 Hydrocephalus, Normal Pressure NA BeFree Detail
<0.001 Hypergammaglobulinemia NA BeFree Detail
0.003 Hyperplasia NA LHGDN Detail
0.122 Hypertensive disease However, treatment can result in rhEPO levels greatly exceeding the normal physi... BeFree,CTD_human 25392999 Detail
<0.001 pulmonary hypertension NA BeFree Detail
<0.001 Immunologic Deficiency Syndromes NA BeFree Detail
0.120 Inflammation NA CTD_human Detail
<0.001 Inflammatory Bowel Diseases NA BeFree Detail
0.011 ischemia Recombinant human erythropoietin augments angiogenic responses in a neonatal rat... BeFree,LHGDN 24969821 Detail
0.122 Kidney Diseases Accelerating Epo production in hepatocytes is one plausible therapeutic strategy... BeFree,CTD_human 26012551 Detail
0.002 Kidney Failure, Acute NA GAD Detail
0.128 Kidney Failure, Chronic NA BeFree,CTD_human,LHGDN Detail
<0.001 Polycystic Kidney Diseases NA BeFree Detail
<0.001 Fibroid Tumor Our study suggests one possible mechanism by which some uterine leiomyomas reach... BeFree 25724399 Detail
0.003 leukemia NA BeFree Detail
0.006 chronic lymphocytic leukemia NA BeFree,GAD,LHGDN Detail
0.005 Acute Erythroblastic Leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Acute Megakaryocytic Leukemias NA BeFree Detail
0.003 Leukemia, Myelocytic, Acute NA BeFree,GAD Detail
0.003 Myeloid Leukemia, Chronic NA BeFree,GAD Detail
<0.001 Leukemia, Myelomonocytic, Chronic NA BeFree Detail
0.003 Leukomalacia, Periventricular NA LHGDN Detail
<0.001 leukopenia Anemia and neutropenia were managed with Erythropoietin and Filgrastim supplemen... BeFree 25469044 Detail
0.006 Liver neoplasms NA BeFree Detail
0.003 Chronic Obstructive Airway Disease NA LHGDN Detail
<0.001 malaria NA BeFree Detail
<0.001 Malaria, Cerebral NA BeFree Detail
0.124 melanoma NA BeFree,CTD_human,LHGDN Detail
<0.001 multiple endocrine neoplasia type 2A NA BeFree Detail
<0.001 meningioma NA BeFree Detail
<0.001 Mesothelioma NA BeFree Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance NA BeFree Detail
<0.001 Monosomy NA BeFree Detail
0.001 multiple myeloma NA BeFree Detail
<0.001 multiple sclerosis NA BeFree Detail
<0.001 Myelodysplasia NA BeFree Detail
0.001 myelofibrosis NA BeFree Detail
<0.001 Myeloproliferative disease NA BeFree Detail
0.122 myocardial infarction NA BeFree,CTD_human Detail
0.120 Neoplasm Invasiveness NA CTD_human Detail
0.123 Neoplasm Metastasis NA BeFree,CTD_human,LHGDN Detail
0.120 Nerve Degeneration NA CTD_human Detail
<0.001 nervous system disorder NA BeFree Detail
<0.001 Nervous System Neoplasms NA BeFree Detail
0.080 Neuritis, Autoimmune, Experimental NA RGD Detail
0.002 neuroblastoma NA BeFree Detail
<0.001 neutropenia Anemia and neutropenia were managed with Erythropoietin and Filgrastim supplemen... BeFree 25469044 Detail
<0.001 obesity NA BeFree Detail
<0.001 ovarian carcinoma NA BeFree Detail
0.121 pancytopenia Many acute and chronic anaemias, including haemolysis, sepsis and genetic bone m... BeFree,CTD_human 25970251 Detail
<0.001 Peripheral Nervous System Neoplasms NA BeFree Detail
0.003 pheochromocytoma NA BeFree,LHGDN Detail
<0.001 Pituitary Diseases NA BeFree Detail
<0.001 plasmacytoma NA BeFree Detail
0.019 polycythemia Due to the unique association of patients' polycythemia with borderline or mildl... BeFree 25263965 Detail
0.012 polycythemia vera NA BeFree Detail
<0.001 Adenomatous Polyposis Coli NA BeFree Detail
0.005 Preleukemia NA BeFree,GAD Detail
0.003 Prostatic Neoplasms NA LHGDN Detail
0.120 pulmonary embolism NA CTD_human Detail
<0.001 pure red-cell aplasia NA BeFree Detail
0.002 kidney failure NA BeFree Detail
0.003 Reperfusion Injury NA LHGDN Detail
<0.001 Respiratory Distress Syndrome, Newborn NA BeFree Detail
0.001 retinal degeneration NA BeFree Detail
0.080 retinal detachment NA RGD Detail
0.002 Retinal Diseases However, until now only a handful number of genetic variants were reported to be... BeFree 25169573 Detail
0.003 Retinal Neovascularization NA LHGDN Detail
0.003 retinopathy of prematurity NA BeFree,GAD Detail
0.002 Rhinitis, Allergic, Perennial NA GAD Detail
<0.001 Salmonella infections NA BeFree Detail
0.120 Sarcoma, Experimental NA CTD_human Detail
<0.001 schizophrenia NA BeFree Detail
0.080 Seizures NA RGD Detail
0.120 Shock, Cardiogenic NA CTD_human Detail
<0.001 Shy-Drager Syndrome NA BeFree Detail
<0.001 Sleep Apnea Syndromes NA BeFree Detail
0.120 status epilepticus NA CTD_human Detail
0.120 gastric ulcer NA CTD_human Detail
<0.001 Cerebrovascular accident NA BeFree Detail
<0.001 Superinfection NA BeFree Detail
<0.001 thalassemia NA BeFree Detail
0.002 Thrombocythemia, Essential NA BeFree Detail
0.120 thrombocytopenia NA CTD_human Detail
0.120 thrombosis NA CTD_human Detail
0.123 Thyroid Neoplasm NA CTD_human,LHGDN Detail
<0.001 trypanosomiasis NA BeFree Detail
0.120 uremia NA BeFree,CTD_human Detail
<0.001 Uterine Fibroids Aberrant expression of erythropoietin in uterine leiomyoma: implications in tumo... BeFree 25724399 Detail
0.120 Vascular Diseases NA CTD_human Detail
0.120 Venous Thrombosis NA CTD_human Detail
0.120 Ventricular fibrillation NA CTD_human Detail
0.120 Tachycardia, Ventricular NA CTD_human Detail
<0.001 severe combined immunodeficiency NA BeFree Detail
<0.001 Central Nervous System Neoplasms NA BeFree Detail
0.003 Polyendocrinopathies, Autoimmune NA LHGDN Detail
<0.001 Polycystic Kidney, Autosomal Dominant NA BeFree Detail
<0.001 Synovial Cyst NA BeFree Detail
<0.001 Coronary Occlusion NA BeFree Detail
0.120 polyneuropathy NA CTD_human Detail
0.003 Familial erythrocytosis Some patients with primary hereditary erythrocytosis exhibit a mutation in the e... BeFree 25189721 Detail
<0.001 Malignant neoplasm of brain NA BeFree Detail
0.001 proliferative diabetic retinopathy NA BeFree Detail
<0.001 acute myocardial infarction NA BeFree Detail
<0.001 anemia of prematurity NA BeFree Detail
<0.001 iron deficiency anemia NA BeFree Detail
<0.001 Hypoplastic anemia NA BeFree Detail
0.002 Tumor Progression NA BeFree Detail
<0.001 hepatoblastoma NA BeFree Detail
<0.001 embryonal carcinoma NA BeFree Detail
0.080 cholangiocarcinoma NA BeFree,RGD Detail
<0.001 hemangioblastoma NA BeFree Detail
<0.001 Lesion of brain NA BeFree Detail
<0.001 Anemia, severe NA BeFree Detail
0.002 Iron deficiency NA BeFree Detail
0.003 Disease Progression NA LHGDN Detail
<0.001 Chronic myocardial ischemia NA BeFree Detail
<0.001 Miller Dieker syndrome NA BeFree Detail
<0.001 Cyanotic congenital heart disease NA BeFree Detail
<0.001 Ichthyosis linearis circumflexa Interestingly, the highest level of EPO/% retic ratio as indicated for EPO non-r... BeFree 25477265 Detail
<0.001 dyskeratosis congenita NA BeFree Detail
<0.001 Juvenile hemochromatosis NA BeFree Detail
<0.001 Simple renal cyst NA BeFree Detail
<0.001 Impaired glucose tolerance NA BeFree Detail
<0.001 Microcytic hypochromic anemia (disorder) NA BeFree Detail
<0.001 Anemia of chronic renal failure NA BeFree Detail
<0.001 Erythroblastosis NA BeFree Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma NA BeFree Detail
<0.001 Conventional (Clear Cell) Renal Cell Carcinoma NA BeFree Detail
0.001 Solid tumour NA BeFree Detail
<0.001 Adenocarcinoma of pancreas NA BeFree Detail
<0.001 Iron Overload NA BeFree Detail
<0.001 cervix carcinoma The aim of this study is to explore a cause-oriented therapy for patients with u... BeFree 25874769 Detail
<0.001 Anastomosis NA BeFree Detail
<0.001 Impaired cognition NA BeFree Detail
<0.001 Proliferative retinopathy NA BeFree Detail
<0.001 Anterior myocardial infarction NA BeFree Detail
<0.001 sialuria NA BeFree Detail
<0.001 Malignant neoplasm of liver NA BeFree Detail
<0.001 malignant mesothelioma NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 Hereditary hemochromatosis NA BeFree Detail
<0.001 multiple system atrophy NA BeFree Detail
0.003 Chronic Kidney Insufficiency NA BeFree Detail
<0.001 neuropathy NA BeFree Detail
<0.001 Anemia of renal disease NA BeFree Detail
<0.001 Beta thalassemia intermedia NA BeFree Detail
0.003 Sleep Apnea, Obstructive NA LHGDN Detail
0.120 Neurodegenerative Disorders NA BeFree,CTD_human Detail
0.001 Hepatitis C, Chronic NA BeFree Detail
<0.001 Heterozygous hemoglobinopathy NA BeFree Detail
<0.001 Inguinal lymphadenopathy NA BeFree Detail
<0.001 Chronic anemia Many acute and chronic anaemias, including haemolysis, sepsis and genetic bone m... BeFree 25970251 Detail
0.002 Carcinogenesis NA BeFree Detail
<0.001 prostate carcinoma NA BeFree Detail
0.001 myelofibrosis The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
<0.001 Myeloproliferative disease MPD-specific markers such as serum EPO, endogenous erythroid colony formation (E... BeFree 16810609 Detail
0.012 polycythemia vera As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive p... BeFree 18616871 Detail
<0.001 Acute Megakaryocytic Leukemias We hypothesized that the JAK2 V617F mutation might also be present in samples fr... BeFree 16598306 Detail
0.012 polycythemia vera Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), to... BeFree 20472853 Detail
0.003 Leukemia, Myelocytic, Acute We hypothesized that the JAK2 V617F mutation might also be present in samples fr... BeFree 16598306 Detail
0.012 polycythemia vera The role of serum erythropoietin level and JAK2 V617F allele burden in the diagn... BeFree 25040297 Detail
0.001 myelofibrosis Respective clustering of unfavorable and favorable cytogenetic clones in myelofi... BeFree 16532437 Detail
<0.001 Epithelial ovarian cancer NA BeFree Detail
0.001 Primary myelofibrosis The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
0.001 myelofibrosis MPD-specific markers such as serum EPO, endogenous erythroid colony formation (E... BeFree 16810609 Detail
0.012 polycythemia vera Half of PVSG/WHO-defined ET patients show low serum erythropoietin levels and ca... BeFree 25116092 Detail
0.001 Primary myelofibrosis MPD-specific markers such as serum EPO, endogenous erythroid colony formation (E... BeFree 16810609 Detail
<0.001 Hyperplasia erythroid Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), to... BeFree 20472853 Detail
0.002 breast carcinoma NA BeFree Detail
0.005 Acute Erythroblastic Leukemia We hypothesized that the JAK2 V617F mutation might also be present in samples fr... BeFree 16598306 Detail
0.012 polycythemia vera Our studies correlating the frequency of JAK2(V617F) mutant allele and clonality... BeFree 17198871 Detail
0.012 polycythemia vera Therefore, a contemporary approach to the diagnosis of polycythemia vera starts ... BeFree 20425336 Detail
0.002 Thrombocythemia, Essential The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
0.012 Erythrocytosis The objective of the present study was to evaluate the diagnostic accuracy of se... BeFree 25040297 Detail
0.019 polycythemia The objective of the present study was to evaluate the diagnostic accuracy of se... BeFree 25040297 Detail
0.001 Primary myelofibrosis Respective clustering of unfavorable and favorable cytogenetic clones in myelofi... BeFree 16532437 Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
0.002 Central neuroblastoma NA BeFree Detail
<0.001 diabetic macular edema NA BeFree Detail
0.003 Amyloidosis, Familial NA BeFree,LHGDN Detail
<0.001 Malignant neoplasm of kidney NA BeFree Detail
<0.001 Malignant Squamous Cell Neoplasm Human tumours from oral squamous cell cancer were xenotransplanted to nude mice ... BeFree 25182342 Detail
0.080 Hypoxia-Ischemia, Brain NA RGD Detail
0.003 thrombocytosis NA BeFree,LHGDN Detail
<0.001 BETA THALASSEMIA, HETEROZYGOUS NA BeFree Detail
0.120 Cardiomyopathies NA CTD_human Detail
<0.001 Cerebral Ischemia NA BeFree Detail
0.005 ovarian neoplasm NA LHGDN Detail
<0.001 Ischemic stroke NA BeFree Detail
<0.001 Sialic Acid Storage Disease, Finnish Type (disorder) NA BeFree Detail
<0.001 Malignant neoplasm of ovary NA BeFree Detail
0.002 Renal anemia NA BeFree Detail
<0.001 Squamous cell carcinoma of the head and neck Erythropoietin suppresses the activation of pro-apoptotic genes in head and neck... BeFree 25182342 Detail
<0.001 Myxoid cyst NA BeFree Detail
0.001 Anemia, Diamond-Blackfan Many acute and chronic anaemias, including haemolysis, sepsis and genetic bone m... BeFree 25970251 Detail
0.120 Weight decreased NA CTD_human Detail
<0.001 Degenerative disorder NA BeFree Detail
<0.001 Chronic myeloproliferative disorder NA BeFree Detail
<0.001 Astrocytoma, low grade NA BeFree Detail
0.001 Secondary polycythemia NA BeFree Detail
<0.001 Cerebellar hemangioblastoma NA BeFree Detail
<0.001 pancreatic ductal adenocarcinoma NA BeFree Detail
<0.001 Treatment related acute myeloid leukaemia NA BeFree Detail
0.001 renal carcinoma NA BeFree Detail
0.003 hearing impairment NA LHGDN Detail
<0.001 Neonatal necrotizing enterocolitis NA BeFree Detail
<0.001 alpha^+^ Thalassemia NA BeFree Detail
0.003 Mammary Neoplasms NA BeFree,LHGDN Detail
<0.001 Tumor Angiogenesis NA BeFree Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 brain edema NA BeFree Detail
0.012 Erythrocytosis NA BeFree Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation NA BeFree Detail
0.003 Chronic Kidney Diseases However, treatment can result in rhEPO levels greatly exceeding the normal physi... BeFree 25392999 Detail
0.120 Renal Insufficiency NA CTD_human Detail
<0.001 Polycystic Kidney - body part NA BeFree Detail
<0.001 tumor vasculature NA BeFree Detail
<0.001 Meningioma, benign, no ICD-O subtype NA BeFree Detail
<0.001 Amyotrophic Lateral Sclerosis, Sporadic NA BeFree Detail
0.120 coronary artery disease NA CTD_human Detail
<0.001 Parvovirus B19 (disease) NA BeFree Detail
0.003 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree,GAD Detail
0.008 liver carcinoma NA BeFree Detail
0.002 Chronic kidney disease stage 5 NA BeFree Detail
0.120 Acute kidney injury NA CTD_human Detail
<0.001 acute myeloid leukemia with myelodysplasia-related changes NA BeFree Detail
<0.001 Refractory anemia, without ringed sideroblasts, without excess blasts NA BeFree Detail
<0.001 Ischemic Cerebrovascular Accident NA BeFree Detail
0.125 myelodysplastic syndrome NA BeFree,CTD_human,GAD Detail
<0.001 Anemia in malignant neoplastic disease NA BeFree Detail
<0.001 Congenital Abnormality NA BeFree Detail
0.080 Acute-Phase Reaction NA RGD Detail
0.001 Primary myelofibrosis NA BeFree Detail
<0.001 Albinism NA BeFree Detail
<0.001 alpha-Thalassemia NA BeFree Detail
<0.001 amyloidosis NA BeFree Detail
0.003 amyotrophic lateral sclerosis NA BeFree,GAD Detail
0.157 anemia Patients receiving combination therapy were more likely to have a haemoglobin le... BeFree,CTD_human,LHGDN 24747867 Detail
0.157 anemia Side effects included pruritus and anaemia leading to erythropoietin therapy. BeFree,CTD_human,LHGDN 25047566 Detail
0.157 anemia Anemia was the most common side effect (n = 55, 72%) requiring erythropoietin an... BeFree,CTD_human,LHGDN 25152985 Detail
0.157 anemia Several studies on the use of erythropoietin (Epo) to treat anaemia in patients ... BeFree,CTD_human,LHGDN 25182342 Detail
0.157 anemia Overall, 66% of patients experienced anaemia, leading to frequent ribavirin dose... BeFree,CTD_human,LHGDN 25218788 Detail
0.157 anemia Mimicking hypoxia to treat anemia: HIF-stabilizer BAY 85-3934 (Molidustat) stimu... BeFree,CTD_human,LHGDN 25392999 Detail
0.157 anemia In addition to anemia, recent discoveries suggest new therapeutic indications fo... BeFree,CTD_human,LHGDN 25630969 Detail
0.157 anemia The EPO genotype in Chinese patients with type 2 diabetes is associated with ane... BeFree,CTD_human,LHGDN 25656761 Detail
0.157 anemia Our discovery of the role of PPAR-α agonists in stimulating self-renewal of earl... BeFree,CTD_human,LHGDN 25970251 Detail
0.157 anemia Accelerating Epo production in hepatocytes is one plausible therapeutic strategy... BeFree,CTD_human,LHGDN 26012551 Detail
0.002 Anemia of chronic disease Anemia of chronic disease is a multifactorial disorder, resulting mainly from in... BeFree 24895335 Detail
<0.001 aplastic anemia NA BeFree Detail
<0.001 Cooley's anemia NA BeFree Detail
0.121 Anemia, Hemolytic NA BeFree,CTD_human Detail
<0.001 Anemia, Hemolytic, Congenital NA BeFree Detail
<0.001 Refractory anemias NA BeFree Detail
<0.001 Refractory anaemia with excess blasts NA BeFree Detail
<0.001 Anemia, Sickle Cell Erythropoietin-mediated expression of placenta growth factor is regulated via ac... BeFree 25876995 Detail
<0.001 sideroblastic anemia NA BeFree Detail
0.016 Anoxia NA LHGDN Detail
<0.001 Anxiety Disorders NA BeFree Detail
<0.001 Ataxia NA BeFree Detail
<0.001 Autoimmune Diseases NA BeFree Detail
0.121 beta thalassemia NA BeFree,CTD_human Detail
<0.001 Blast Phase NA BeFree Detail
<0.001 Brain Diseases NA BeFree Detail
<0.001 Brain Neoplasms NA BeFree Detail
0.002 Malignant neoplasm of breast NA BeFree Detail
0.120 calcinosis NA CTD_human Detail
0.001 Non-small cell lung carcinoma NA BeFree Detail
0.006 renal cell carcinoma NA BeFree,LHGDN Detail
Annotation

Annotations

DescrptionSourceLinks
Human tumours from oral squamous cell cancer were xenotransplanted to nude mice treated with Epo. DisGeNET Detail
However, until now only a handful number of genetic variants were reported to be associated with eit... DisGeNET Detail
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However, until now only a handful number of genetic variants were reported to be associated with eit... DisGeNET Detail
However, until now only a handful number of genetic variants were reported to be associated with eit... DisGeNET Detail
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The EPO genotype in Chinese patients with type 2 diabetes is associated with anemia and may help to ... DisGeNET Detail
Genetic variants in angiotensin-converting enzyme (ACE), tumor necrosis factor-alpha (TNF-α) and ery... DisGeNET Detail
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The loss of all PHD isoforms results in both polycythemia, which is caused by Epo overproduction, an... DisGeNET Detail
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Therefore, pEpo-NI2-SV-HSVtk/PEI-Dexa complex may be useful for glioblastoma-specific gene therapy. DisGeNET Detail
It has been recently reported that erythropoietin (EPO) and its receptor (EPOR) are involved in glio... DisGeNET Detail
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However, treatment can result in rhEPO levels greatly exceeding the normal physiological range for e... DisGeNET Detail
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Recombinant human erythropoietin augments angiogenic responses in a neonatal rat model of cerebral u... DisGeNET Detail
Accelerating Epo production in hepatocytes is one plausible therapeutic strategy for treating anemia... DisGeNET Detail
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Our study suggests one possible mechanism by which some uterine leiomyomas reach a large size, and t... DisGeNET Detail
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Anemia and neutropenia were managed with Erythropoietin and Filgrastim supplementation, respectively... DisGeNET Detail
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Many acute and chronic anaemias, including haemolysis, sepsis and genetic bone marrow failure diseas... DisGeNET Detail
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Due to the unique association of patients' polycythemia with borderline or mildly elevated erythropo... DisGeNET Detail
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Aberrant expression of erythropoietin in uterine leiomyoma: implications in tumor growth. DisGeNET Detail
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Some patients with primary hereditary erythrocytosis exhibit a mutation in the erythropoietin recept... DisGeNET Detail
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Interestingly, the highest level of EPO/% retic ratio as indicated for EPO non-responder was detecte... DisGeNET Detail
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The aim of this study is to explore a cause-oriented therapy for patients with uterine cervical canc... DisGeNET Detail
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Many acute and chronic anaemias, including haemolysis, sepsis and genetic bone marrow failure diseas... DisGeNET Detail
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The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F ... DisGeNET Detail
As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive patients had PV-like ... DisGeNET Detail
We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acu... DisGeNET Detail
Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), together with the bone... DisGeNET Detail
We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acu... DisGeNET Detail
The role of serum erythropoietin level and JAK2 V617F allele burden in the diagnosis of polycythaemi... DisGeNET Detail
Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid ... DisGeNET Detail
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The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F ... DisGeNET Detail
Half of PVSG/WHO-defined ET patients show low serum erythropoietin levels and carry the JAK2(V617F) ... DisGeNET Detail
MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F ... DisGeNET Detail
Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), together with the bone... DisGeNET Detail
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We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acu... DisGeNET Detail
Our studies correlating the frequency of JAK2(V617F) mutant allele and clonality, as well as the pre... DisGeNET Detail
Therefore, a contemporary approach to the diagnosis of polycythemia vera starts with peripheral bloo... DisGeNET Detail
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V61... DisGeNET Detail
The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V61... DisGeNET Detail
Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid ... DisGeNET Detail
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Human tumours from oral squamous cell cancer were xenotransplanted to nude mice treated with Epo. DisGeNET Detail
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Erythropoietin suppresses the activation of pro-apoptotic genes in head and neck squamous cell carci... DisGeNET Detail
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Many acute and chronic anaemias, including haemolysis, sepsis and genetic bone marrow failure diseas... DisGeNET Detail
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However, treatment can result in rhEPO levels greatly exceeding the normal physiological range for e... DisGeNET Detail
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Patients receiving combination therapy were more likely to have a haemoglobin level of <8.5 g/dL (70... DisGeNET Detail
Side effects included pruritus and anaemia leading to erythropoietin therapy. DisGeNET Detail
Anemia was the most common side effect (n = 55, 72%) requiring erythropoietin and RBV dose reduction... DisGeNET Detail
Several studies on the use of erythropoietin (Epo) to treat anaemia in patients undergoing cancer tr... DisGeNET Detail
Overall, 66% of patients experienced anaemia, leading to frequent ribavirin dose reductions (42%) an... DisGeNET Detail
Mimicking hypoxia to treat anemia: HIF-stabilizer BAY 85-3934 (Molidustat) stimulates erythropoietin... DisGeNET Detail
In addition to anemia, recent discoveries suggest new therapeutic indications for EPO, unrelated to ... DisGeNET Detail
The EPO genotype in Chinese patients with type 2 diabetes is associated with anemia and may help to ... DisGeNET Detail
Our discovery of the role of PPAR-α agonists in stimulating self-renewal of early erythroid progenit... DisGeNET Detail
Accelerating Epo production in hepatocytes is one plausible therapeutic strategy for treating anemia... DisGeNET Detail
Anemia of chronic disease is a multifactorial disorder, resulting mainly from inflammation-driven re... DisGeNET Detail
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Erythropoietin-mediated expression of placenta growth factor is regulated via activation of hypoxia-... 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
-
dbSNP
rs386626619 dbSNP
Genome
hg19
Position
chr7:100,318,091-100,321,323
Variant Type
snv
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