eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| adrenal carcinoma | ||||
| Disease ID | 849 |
|---|---|
| Disease | adrenal carcinoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0010481 | cushing's syndrome | 2 C0010481 | cushing syndrome | 2 C0494165 | liver metastases | 1 C1384514 | primary aldosteronism | 1 C1384514 | primary hyperaldosteronism | 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:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912664 | 15878142 | 7157 | TP53 | umls:C0206686 | BeFree | Recently, a characteristic TP53 mutation at codon 337 (R337H) has been identified in the germline of children with adrenocortical carcinoma in Southern Brazil. | 0.260659377 | 2005 | TP53 | 17 | 7670699 | C | T,G,A |
| rs121912664 | 16033918 | 7157 | TP53 | umls:C0206686 | BeFree | The TP53 R337H mutation dramatically increases predisposition to childhood ACT but not to other cancers, and explains the increased frequency of ACT observed in this geographic region. | 0.260659377 | 2006 | TP53 | 17 | 7670699 | C | T,G,A |
| rs121912664 | 11753428 | 7157 | TP53 | umls:C0206686 | BeFree | Children in southern Brazil that exhibit an elevated incidence of adrenocortical carcinoma (ACC) harbor an Arg 337 to His mutation within the tetramerization domain of p53 (p53-R337H; 35 of 36 patients). | 0.260659377 | 2002 | TP53 | 17 | 7670699 | C | T,G,A |
| rs121912664 | 12634062 | 7157 | TP53 | umls:C0206686 | BeFree | The tetramerization domain for wild-type p53 (p53tet-wt) and a p53 mutant, R337H (p53tet-R337H), associated with adrenocortical carcinoma (ACC) in children, can be converted from the soluble native state to amyloid-like fibrils under certain conditions. | 0.260659377 | 2003 | TP53 | 17 | 7670699 | C | T,G,A |
| rs28934576 | 16096528 | 7157 | TP53 | umls:C0206686 | BeFree | Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has not been associated with development of adrenal cortical carcinoma. | 0.260659377 | 2005 | TP53 | 17 | 7673802 | C | T,A |
| rs387906778 | 22315453 | 3762 | KCNJ5 | umls:C0206686 | BeFree | These studies demonstrate that the T158A mutation of the KCNJ5 gene produces a marked stimulation in aldosterone biosynthesis that is dependent on membrane depolarization and sodium and calcium influx into the HAC15 adrenal cortical carcinoma cells. | 0.000542884 | 2012 | KCNJ5 | 11 | 128911745 | A | 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 | 849 |
|---|---|
| Disease | adrenal carcinoma |
| Case | (Waiting for update.) |