eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| astrocytoma | ||||
| Disease ID | 463 |
|---|---|
| Disease | astrocytoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:12) C2364133 | infection C2248595 | dedifferentiation C1608408 | malignant transformation C1527311 | brain oedema C1090821 | sepsis C0341687 | nephrotic syndrome in amyloidosis C0041341 | tuberous sclerosis C0024454 | maffucci's syndrome C0018989 | hemiparesis C0017638 | glioma C0002793 | anaplastic change C0002793 | anaplasia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0041341 | tuberous sclerosis | 28 C1608408 | malignant transformation | 4 C0017638 | glioma | 4 C0018989 | hemiparesis | 1 C0009450 | infection | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:40) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10464870 | 26014354 | 137196 | CCDC26 | umls:C0004114 | BeFree | In addition, SNPs rs10464870 and rs891835 in CCDC26 were associated with an increased risk of non-astrocytoma tumor subtypes (p trend = 0.009, p trend = 0.007, respectively). | 0.000271442 | 2015 | CCDC26 | 8 | 129465577 | C | T |
| rs113488022 | 24132923 | 673 | BRAF | umls:C0004114 | BeFree | The BT-40 low-grade childhood astrocytoma xenograft model expresses mutated BRAF(V600E) and is highly sensitive to the MEK inhibitor selumetinib (AZD6244). | 0.131615919 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22038996 | 673 | BRAF | umls:C0004114 | BeFree | With regard to implications for therapy, our results support evaluation of BRAF(V600E)-specific inhibitors for treating BRAF(V600E) MA patients. | 0.131615919 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24132923 | 5609 | MAP2K7 | umls:C0004114 | BeFree | The BT-40 low-grade childhood astrocytoma xenograft model expresses mutated BRAF(V600E) and is highly sensitive to the MEK inhibitor selumetinib (AZD6244). | 0.001085767 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22586120 | 673 | BRAF | umls:C0004114 | BeFree | Our findings indicate a rational therapeutic strategy for treating a subset of pediatric astrocytomas with BRAF(V600E) mutation and CDKN2A deficiency. | 0.131615919 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22586120 | 1029 | CDKN2A | umls:C0004114 | BeFree | Our findings indicate a rational therapeutic strategy for treating a subset of pediatric astrocytomas with BRAF(V600E) mutation and CDKN2A deficiency. | 0.01549205 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs118101777 | 25427834 | 546 | ATRX | umls:C0004114 | BeFree | ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. | 0.001900093 | 2014 | IDH2 | 15 | 90087472 | C | T |
| rs118101777 | 25427834 | 3418 | IDH2 | umls:C0004114 | BeFree | ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. | 0.010434343 | 2014 | IDH2 | 15 | 90087472 | C | T |
| rs121909717 | 19379794 | 2670 | GFAP | umls:C0004114 | BeFree | The process of inducing GFAP aggregates in astrocytoma-derived cells is different between R239C and R416W mutant GFAP. A time-lapse recording study. | 0.01141049 | 2009 | GFAP | 17 | 44908075 | G | T,A |
| rs121913499 | 19340432 | 3417 | IDH1 | umls:C0004114 | BeFree | Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome. | 0.027936107 | 2009 | IDH1 | 2 | 208248389 | G | T,A |
| rs121913499 | 19340432 | 81890 | QTRT1 | umls:C0004114 | BeFree | Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. | 0.000271442 | 2009 | IDH1 | 2 | 208248389 | G | T,A |
| rs121913499 | 19340432 | 9097 | USP14 | umls:C0004114 | BeFree | Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. | 0.000271442 | 2009 | IDH1 | 2 | 208248389 | G | T,A |
| rs121913499 | 19554337 | 3417 | IDH1 | umls:C0004114 | BeFree | IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. | 0.027936107 | 2009 | IDH1 | 2 | 208248389 | G | T,A |
| rs121913500 | 24599602 | 768 | CA9 | umls:C0004114 | BeFree | To study the putative expression patterns and clinical significance of Hsp27, we assessed the associations between Hsp27, R132H mutation of Isocitrate dehydrogenase1 (IDH1-R132H), Hypoxia-inducible factor subunit alpha (HIF-1 alpha), Carbonic anhydrase IX (CA IX), and patient prognosis in astrocytic gliomas. | 0.002995792 | 2015 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 23934769 | 3417 | IDH1 | umls:C0004114 | BeFree | As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma. | 0.027936107 | 2014 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 25427834 | 3418 | IDH2 | umls:C0004114 | BeFree | ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. | 0.010434343 | 2014 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 25427834 | 546 | ATRX | umls:C0004114 | BeFree | ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an integrated diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. | 0.001900093 | 2014 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 24599602 | 3417 | IDH1 | umls:C0004114 | BeFree | To study the putative expression patterns and clinical significance of Hsp27, we assessed the associations between Hsp27, R132H mutation of Isocitrate dehydrogenase1 (IDH1-R132H), Hypoxia-inducible factor subunit alpha (HIF-1 alpha), Carbonic anhydrase IX (CA IX), and patient prognosis in astrocytic gliomas. | 0.027936107 | 2015 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 24599602 | 3091 | HIF1A | umls:C0004114 | BeFree | To study the putative expression patterns and clinical significance of Hsp27, we assessed the associations between Hsp27, R132H mutation of Isocitrate dehydrogenase1 (IDH1-R132H), Hypoxia-inducible factor subunit alpha (HIF-1 alpha), Carbonic anhydrase IX (CA IX), and patient prognosis in astrocytic gliomas. | 0.124624443 | 2015 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 19798509 | 3417 | IDH1 | umls:C0004114 | BeFree | IDH1 R132H mutations occur in approximately 70% of astrocytomas and oligodendroglial tumors. | 0.027936107 | 2009 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 24557705 | 113451 | AZIN2 | umls:C0004114 | BeFree | Fractional anisotropy and ADC from DTI can noninvasively detect IDH1 R132H mutation in astrogliomas. | 0.000271442 | 2015 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 24557705 | 339896 | GADL1 | umls:C0004114 | BeFree | Fractional anisotropy and ADC from DTI can noninvasively detect IDH1 R132H mutation in astrogliomas. | 0.000271442 | 2015 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 19818334 | 3417 | IDH1 | umls:C0004114 | BeFree | Furthermore, IMab-1 specifically stained the IDH1(R132H)-expressing cells in astrocytomas in immunohistochemistry, whereas it did not react with IDH1(R132H)-negative primary glioblastoma sections. | 0.027936107 | 2009 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 22385787 | 3417 | IDH1 | umls:C0004114 | BeFree | The mutation analysis performed on the latter case with DNA separately sampled from the oligodendroglioma- like area and the astrocytoma-like area detected IDH1 G395A in both areas. | 0.027936107 | 2012 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 23619925 | 6774 | STAT3 | umls:C0004114 | BeFree | We investigated the expression of Sox11 in 132 diffuse astrocytomas in relation to the regulator cell marker nestin, c-Met and IDH1-R132H, which have shown to be differentially expressed among the molecular subgroups of malignant gliomas, as well as to an inducer of astrocytic differentiation, that is, signal transducer and activator of transcription (p-STAT-3), clinicopathological features and survival. | 0.001357209 | 2013 | IDH1 | 2 | 208248388 | C | T |
| rs137852972 | 23250914 | 26580 | BSCL2 | umls:C0004114 | BeFree | In this study, we show that expression of seipin N-glycosylation mutant N88S led to decreased triglyceride (TG) content in astrocytoma and motor neuron cell lines. | 0.000271442 | 2013 | BSCL2;HNRNPUL2-BSCL2 | 11 | 62702499 | T | C |
| rs1695 | 21128213 | 2950 | GSTP1 | umls:C0004114 | BeFree | GSTP1 Ile105Val polymorphism in astrocytomas and glioblastomas. | 0.01036833 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1801516 | 18465141 | 472 | ATM | umls:C0004114 | BeFree | Three-hit hypothesis in astrocytoma: tracing the polymorphism D1853N in ATM gene through a pedigree of the proband affected with primary brain tumor. | 0.000542884 | 2008 | ATM | 11 | 108304735 | G | A |
| rs2297440 | 26014354 | 51750 | RTEL1 | umls:C0004114 | BeFree | Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs6089953, rs6010620 and rs2297440 (p trend = 0.022, p trend = 0.042, p trend = 0.029, respectively) as well as an increased risk of this subtype associated with RTEL1 rs4809324 (p trend = 0.033). | 0.000542884 | 2015 | RTEL1;RTEL1-TNFRSF6B | 20 | 63680946 | T | C |
| rs371409680 | NA | 7157 | TP53 | umls:C0004114 | CLINVAR | NA | 0.260462981 | NA | TP53 | 17 | 7673772 | C | T |
| rs4809324 | 26014354 | 51750 | RTEL1 | umls:C0004114 | BeFree | Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs6089953, rs6010620 and rs2297440 (p trend = 0.022, p trend = 0.042, p trend = 0.029, respectively) as well as an increased risk of this subtype associated with RTEL1 rs4809324 (p trend = 0.033). | 0.000542884 | 2015 | RTEL1;RTEL1-TNFRSF6B | 20 | 63686867 | T | C |
| rs5498 | 19306055 | 3383 | ICAM1 | umls:C0004114 | BeFree | ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas. | 0.006720033 | 2009 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 19306055 | 5175 | PECAM1 | umls:C0004114 | BeFree | ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas. | 0.002909916 | 2009 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs58064122 | 22705585 | 2670 | GFAP | umls:C0004114 | BeFree | On the basis of the protective role shown by both these small heat shock proteins (sHSPs), and on the already well established neuroprotective effects of curcumin in several diseases, we have investigated the effects of this compound in an in vitro model of Alexander disease, consisting in U251-MG astrocytoma cells transiently transfected with a construct encoding for GFAP carrying the p.R239C mutation in frame with the reporter green fluorescent protein (GFP). | 0.01141049 | 2012 | GFAP | 17 | 44913334 | G | A |
| rs58064122 | 19379794 | 2670 | GFAP | umls:C0004114 | BeFree | The process of inducing GFAP aggregates in astrocytoma-derived cells is different between R239C and R416W mutant GFAP. A time-lapse recording study. | 0.01141049 | 2009 | GFAP | 17 | 44913334 | G | A |
| rs6010620 | 26014354 | 51750 | RTEL1 | umls:C0004114 | BeFree | Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs6089953, rs6010620 and rs2297440 (p trend = 0.022, p trend = 0.042, p trend = 0.029, respectively) as well as an increased risk of this subtype associated with RTEL1 rs4809324 (p trend = 0.033). | 0.000542884 | 2015 | RTEL1;RTEL1-TNFRSF6B | 20 | 63678486 | A | G |
| rs6089953 | 26014354 | 51750 | RTEL1 | umls:C0004114 | BeFree | Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs6089953, rs6010620 and rs2297440 (p trend = 0.022, p trend = 0.042, p trend = 0.029, respectively) as well as an increased risk of this subtype associated with RTEL1 rs4809324 (p trend = 0.033). | 0.000542884 | 2015 | RTEL1;RTEL1-TNFRSF6B | 20 | 63659655 | A | G |
| rs668 | 19306055 | 3383 | ICAM1 | umls:C0004114 | BeFree | ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas. | 0.006720033 | 2009 | NA | NA | NA | NA | NA |
| rs668 | 19306055 | 5175 | PECAM1 | umls:C0004114 | BeFree | ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas. | 0.002909916 | 2009 | NA | NA | NA | NA | NA |
| rs891835 | 26014354 | 137196 | CCDC26 | umls:C0004114 | BeFree | In addition, SNPs rs10464870 and rs891835 in CCDC26 were associated with an increased risk of non-astrocytoma tumor subtypes (p trend = 0.009, p trend = 0.007, respectively). | 0.000271442 | 2015 | CCDC26 | 8 | 129479506 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 463 |
|---|---|
| Disease | astrocytoma |
| Case | (Waiting for update.) |