eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| collecting duct carcinoma | ||||
| Disease ID | 1923 |
|---|---|
| Disease | collecting duct carcinoma |
| Definition | Also known as collecting duct carcinoma, this is a rare type of renal carcinoma. It arises from the collecting ducts of the renal medulla, and most authors suggest that this is an aggressive tumor. |
| Synonym | bdc bellini duct carcinoma carcinoma of collecting ducts of bellini carcinoma of kidney collecting duct carcinoma of renal collecting duct carcinoma of the collecting ducts of bellini carcinoma of the kidney collecting duct carcinoma of the renal collecting duct carcinoma, collecting duct carcinoma, collecting duct (kidney) carcinomas, collecting duct carcinomas, collecting duct (kidney) collecting duct carcinoma (kidney) collecting duct carcinoma (morphologic abnormality) collecting duct carcinoma of the kidney collecting duct carcinomas collecting duct carcinomas (kidney) collecting duct renal cancer collecting duct renal cell carcinoma duct carcinoma, collecting duct carcinoma, collecting (kidney) duct carcinomas, collecting duct carcinomas, collecting (kidney) kidney collecting duct carcinoma renal carcinoma, collecting duct type renal collecting duct carcinoma |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1266044 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:38) 25 | ABL1 | 1.166 | DISEASES 238 | ALK | 2.708 | DISEASES 23600 | AMACR | 3.248 | DISEASES 768 | CA9 | 1.864 | DISEASES 779 | CACNA1S | 2.026 | DISEASES 79577 | CDC73 | 1.329 | DISEASES 23405 | DICER1 | 1.142 | DISEASES 1785 | DNM2 | 1.959 | DISEASES 27436 | EML4 | 2.213 | DISEASES 2271 | FH | 3.117 | DISEASES 2272 | FHIT | 1.007 | DISEASES 2526 | FUT4 | 1.573 | DISEASES 2625 | GATA3 | 2.561 | DISEASES 3135 | HLA-G | 1.297 | DISEASES 10320 | IKZF1 | 1.286 | DISEASES 3875 | KRT18 | 1.763 | DISEASES 3880 | KRT19 | 2.67 | DISEASES 3885 | KRT34 | 2.081 | DISEASES 3855 | KRT7 | 3.515 | DISEASES 4311 | MME | 3.068 | DISEASES 4771 | NF2 | 1.575 | DISEASES 4952 | OCRL | 1.836 | DISEASES 5076 | PAX2 | 3.177 | DISEASES 7849 | PAX8 | 3.917 | DISEASES 55193 | PBRM1 | 2.084 | DISEASES 11201 | POLI | 1.727 | DISEASES 639 | PRDM1 | 1.515 | DISEASES 6390 | SDHB | 1.207 | DISEASES 6391 | SDHC | 1.291 | DISEASES 6392 | SDHD | 1.181 | DISEASES 29072 | SETD2 | 1.545 | DISEASES 6666 | SOX12 | 3.545 | DISEASES 6760 | SS18 | 2.082 | DISEASES 727837 | SSX2B | 1.535 | DISEASES 7170 | TPM3 | 2.887 | DISEASES 7171 | TPM4 | 2.691 | DISEASES 7503 | XIST | 2.043 | DISEASES 25925 | ZNF521 | 3.146 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1923 |
|---|---|
| Disease | collecting duct carcinoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1923 |
|---|---|
| Disease | collecting duct carcinoma |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434419 | 16957682 | 658 | BMPR1B | umls:C1266044 | BeFree | Here, we describe a novel mutation in BMPR1B (R486Q) that is associated with either BDA2 or a BDC/SYM1-like phenotype. | 0.000271442 | 2006 | BMPR1B | 4 | 95154621 | G | A |
| rs121909348 | 18283415 | 8200 | GDF5 | umls:C1266044 | BeFree | In one family affected with BDC, we identified a novel nonsense mutation, c.1461T > G (p.Y487X), which is predicted to truncate the GDF5 precursor protein by deleting 15 amino acids at its C-terminus. | 0.001628651 | 2008 | GDF5 | 20 | 35433954 | A | C |
| rs140047318 | 16957682 | 658 | BMPR1B | umls:C1266044 | BeFree | Here, we describe a novel mutation in BMPR1B (R486Q) that is associated with either BDA2 or a BDC/SYM1-like phenotype. | 0.000271442 | 2006 | BMPR1B | 4 | 95152757 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1923 |
|---|---|
| Disease | collecting duct carcinoma |
| Case | (Waiting for update.) |