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BDC
MCID: CLL002
MIFTS: 53

Collecting Duct Carcinoma (BDC)

Categories: Cancer diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Collecting Duct Carcinoma

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MalaCards integrated aliases for Collecting Duct Carcinoma:

Name: Collecting Duct Carcinoma 12 52 58 15 17
Kidney Medullary Carcinoma 52 29 17 71
Renal Medullary Carcinoma 12 52 58
Collecting Duct Carcinoma of the Kidney 52 71
Bellini Duct Carcinoma 52 58
Bellini Carcinoma 52 58
Bdc 52 58
Cdc 52 58
Renal Carcinoma, Collecting Duct Type 12
Carcinoma of Renal Collecting Duct 12
Renal Collecting Duct Carcinoma 52
Bellini's Duct Carcinoma 52

Characteristics:

Orphanet epidemiological data:

58
collecting duct carcinoma
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4464
MeSH 43 D002292
NCIt 49 C6194
SNOMED-CT 67 733470002
MESH via Orphanet 44 D002292
ICD10 via Orphanet 33 C64
UMLS via Orphanet 72 C1266044
UMLS 71 C1266044 C4049328
Sources

Summaries for Collecting Duct Carcinoma

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NIH Rare Diseases : 52 Collecting duct carcinoma (CDC) is a rare and aggressive form of kidney cancer that begins in the collecting duct of the kidney. Many people with CDC have no signs or symptoms until the cancer is at an advanced stage. Symptoms may include flank pain , unexplained weight loss, or blood in the urine. Although it can affect people of all ages, CDC tends to occur in younger patients. The exact cause of CDC is unknown. It usually occurs in people with no family history of the condition. Treatment options for CDC may include surgery and/or chemotherapy .

MalaCards based summary : Collecting Duct Carcinoma, also known as kidney medullary carcinoma, is related to rhabdoid tumor predisposition syndrome 1 and rhabdoid cancer, and has symptoms including flank pain An important gene associated with Collecting Duct Carcinoma is XIST (X Inactive Specific Transcript), and among its related pathways/superpathways are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. The drugs Cisplatin and Sorafenib have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and spinal cord, and related phenotypes are cellular and cardiovascular system

Disease Ontology : 12 A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material.

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Related Diseases for Collecting Duct Carcinoma

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Diseases related to Collecting Duct Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 727)
# Related Disease Score Top Affiliating Genes
1 rhabdoid tumor predisposition syndrome 1 30.7 VIM SMARCB1 MUC1
2 rhabdoid cancer 30.5 SMARCB1 PBRM1 CDKN2A
3 renal pelvis adenocarcinoma 30.2 PAX8 KRT7 KRT19
4 mesenchymal chondrosarcoma 30.1 VIM SMARCB1 MUC1 KRT7
5 clear cell adenocarcinoma 30.1 PAX8 KRT7 KRT20 AMACR
6 spindle cell carcinoma 30.0 VIM MUC1 KRT7 KRT19 AMACR
7 angiomyolipoma 29.9 VIM PAX8 MME KRT7
8 cystitis 29.9 VIM KRT7 KRT20
9 mucinous cystadenocarcinoma 29.8 VIM MUC1 KRT7 KRT20
10 epithelioid sarcoma 29.8 VIM SMARCB1 PBRM1 MUC1 KRT7
11 papillary cystadenocarcinoma 29.8 KRT7 KRT20
12 in situ carcinoma 29.7 MUC1 ERBB2 CDKN2A
13 kidney cancer 29.6 VIM VHL SETD2 PBRM1 FLCN FHIT
14 renal cell carcinoma, nonpapillary 29.5 VIM VHL SETD2 PVALB PBRM1 PAX8
15 cavernous hemangioma 29.4 VIM MUC1 KRT7 KRT20 KRT19
16 oral cancer 29.3 KRT19 FHIT CDKN2A
17 adenocarcinoma 29.3 MUC1 KRT7 KRT20 ERBB2 CDKN2A
18 cystadenocarcinoma 29.1 VIM PAX8 MUC1 KRT7 ERBB2
19 papillary adenocarcinoma 29.0 VIM MUC1 KRT7 KRT19 ERBB2
20 bilateral breast cancer 29.0 FHIT ERBB2 CDKN2A
21 papillary carcinoma 28.9 PAX8 MUC1 KRT7 KRT20 KRT19 ERBB2
22 skin carcinoma 28.9 KRT7 KRT20 FHIT CDKN2A
23 carcinosarcoma 28.8 VIM PAX8 MUC1 MME KRT7 ERBB2
24 tubular adenocarcinoma 28.8 MUC1 MME KRT7 KRT20 ERBB2
25 transitional cell carcinoma 28.7 KRT7 KRT20 KRT19 FHIT ERBB2 CDKN2A
26 leukemia, acute lymphoblastic 28.5 XIST SETD2 MME FHIT CDKN2A
27 clear cell renal cell carcinoma 28.3 VIM VHL SETD2 PBRM1 PAX8 MUC1
28 bladder urothelial carcinoma 28.2 KRT7 KRT20 FHIT ERBB2 CDKN2A
29 chromophobe renal cell carcinoma 28.0 VIM VHL SETD2 PVALB PBRM1 MUC1
30 oncocytoma 27.9 VIM VHL PVALB MUC1 MME KRT7
31 renal cell carcinoma, papillary, 1 27.5 VHL SMARCB1 SETD2 PBRM1 PAX8 MME
32 bladder cancer 27.0 XIST MUC1 LZTS1 KRT20 KRT19 FHIT
33 brachydactyly, type c 12.1
34 chagas disease 11.6
35 bazex syndrome 11.5
36 diphtheria 11.5
37 cholera 11.5
38 zika fever 11.4
39 sudden infant death syndrome 11.4
40 fragile x syndrome 11.4
41 cerebral palsy 11.4
42 acute flaccid myelitis 11.4
43 renal cell carcinoma, xp11-associated 11.3
44 skin creases, congenital symmetric circumferential, 1 11.1
45 toxocariasis 11.1
46 toxoplasmosis 11.1
47 congenital rubella 11.1
48 congenital zika syndrome 11.1
49 human immunodeficiency virus type 1 10.6
50 endolymphatic sac tumor 10.5 VHL KRT7

Graphical network of the top 20 diseases related to Collecting Duct Carcinoma:



Diseases related to Collecting Duct Carcinoma
Sources

Symptoms & Phenotypes for Collecting Duct Carcinoma

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UMLS symptoms related to Collecting Duct Carcinoma:


flank pain

MGI Mouse Phenotypes related to Collecting Duct Carcinoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 CDKN2A ERBB2 FLCN KRT19 KRT7 LZTS1
2 cardiovascular system MP:0005385 10.14 CDKN2A ERBB2 FLCN KRT19 PAX8 PBRM1
3 homeostasis/metabolism MP:0005376 10.07 AMACR CDKN2A ERBB2 FHIT FLCN KRT7
4 embryo MP:0005380 10.02 CDKN2A ERBB2 FLCN KRT19 PAX8 PBRM1
5 mortality/aging MP:0010768 9.77 AMACR CDKN2A ERBB2 FHIT FLCN KRT19
6 liver/biliary system MP:0005370 9.7 AMACR CDKN2A KRT19 MME PBRM1 SMARCB1
7 neoplasm MP:0002006 9.28 CDKN2A ERBB2 FHIT FLCN KRT19 LZTS1
Sources

Drugs & Therapeutics for Collecting Duct Carcinoma

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Drugs for Collecting Duct Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
2
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
3
Ipilimumab Approved Phase 2 477202-00-9
4
nivolumab Approved Phase 2 946414-94-4
5
Gemcitabine Approved Phase 2 95058-81-4 60750
6
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
7
Sodium citrate Approved, Investigational Phase 2 68-04-2
8
Daunorubicin Approved Phase 2 20830-81-3 30323
9
Ixazomib Approved, Investigational Phase 2 1072833-77-2
10
Bevacizumab Approved, Investigational Phase 2 216974-75-3
11
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
12
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
13
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
15
Glycine Approved, Nutraceutical, Vet_approved Phase 2 56-40-6 750
16 Antibodies, Monoclonal Phase 2
17 Antineoplastic Agents, Immunological Phase 2
18 Anti-Infective Agents Phase 2
19
Liposomal doxorubicin Phase 2 31703
20 Antiviral Agents Phase 2
21 Citrate Phase 2
22
protease inhibitors Phase 2
23 HIV Protease Inhibitors Phase 2
24 Anti-Bacterial Agents Phase 2
25 Neurotransmitter Agents Phase 2
26 Antimetabolites Phase 2
27 Antibiotics, Antitubercular Phase 2
28 lysine Phase 2
29 Immunoglobulins Phase 2
30 Antibodies Phase 2
31 Immunologic Factors Phase 2
32 Immunosuppressive Agents Phase 2
33 Protein Kinase Inhibitors Phase 2
34 Angiogenesis Inhibitors Phase 2

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Phase II Trial Of Sunitinib In Advanced Non-Clear Cell Type Renal Cell Carcinoma Unknown status NCT01219751 Phase 2 Sunitinib
2 Phase II Trial of Sunitinib Malate (Sutent) Therapy in Patients With Advanced Non-Clear Cell Renal Cell Carcinoma Completed NCT00465179 Phase 2 Sunitinib Malate
3 Sorafenib Combined With Cisplatin and Gemcitabine for the Treatment of Patients With Advanced Renal Collecting Duct Carcinoma:A Pilot, Open Study Completed NCT01762150 Phase 2 Sorafenib;Gemcitabine;Cisplatin
4 Phase II Trial of Nivolumab Plus Ipilimumab in Patients With Renal Medullary Carcinoma Recruiting NCT03274258 Phase 2
5 Phase II Trial of Ixazomib Combined With Gemcitabine and Doxorubicin in Patients With Renal Medullary Carcinoma Recruiting NCT03587662 Phase 2 Doxorubicin;Doxorubicin Hydrochloride;Gemcitabine;Gemcitabine Hydrochloride;Ixazomib;Ixazomib Citrate
6 Prospective Phase II Study of Gemcitabine Plus Platinium Salt in Combination With Bevacizumab (Avastin®) for Metastatic Collecting Duct Carcinoma Recruiting NCT02363751 Phase 2 Bevacizumab
7 caBozantinib in cOllectiNg ductS Renal Cell cArcInoma (BONSAI) Recruiting NCT03354884 Phase 2 cabozantinib
8 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2 Tazemetostat
9 A Phase II of Single Agent Cabozantinib in Patients With Locally Advanced or Metastatic Non-clear Cell Renal Cell Carcinoma Post Immunotherapy or Who Are Unsuitable for Immunotherapy (ANZUP1802) Recruiting NCT03685448 Phase 2 Cabozantinib
10 Toripalimab Combined With Axitinib as Neoadjuvant Therapy for Advanced/Metastatic Non-clear Cell Renal Cell Carcinoma Not yet recruiting NCT04385654 Phase 2 Toripalimab;Axitinib
11 Everolimus Versus Sunitinib Therapy in Patients With Advanced Non-clear Cell Renal Cell Carcinoma Terminated NCT01185366 Phase 2 Everolimus;Sunitinib
12 A Phase 1 Study of the EZH2 Inhibitor Tazemetostat in Pediatric Subjects With Relapsed or Refractory INI1-Negative Tumors or Synovial Sarcoma Recruiting NCT02601937 Phase 1 Tazemetostat
13 A Phase 1 Study of Cabozantinib Plus Nivolumab (CaboNivo) Alone or in Combination With Ipilimumab (CaboNivoIpi) in Patients With Advanced/Metastatic Urothelial Carcinoma and Other Genitourinary Tumors Recruiting NCT02496208 Phase 1 Cabozantinib;Cabozantinib S-malate
14 Perfusion Scanning's for Kidney Tumors Completed NCT01971905
15 Pattern of Sickle Cell Nephropathy in Patients With Sickle Cell Disease Not yet recruiting NCT03680547
16 Role of Immunohistochemical Markers , Geminin and Mcm2 in Prognosis of Renal Cell Carcinoma, and Its Clinicopathological Correlation. A Prospective Controlled Study Not yet recruiting NCT03692533

Search NIH Clinical Center for Collecting Duct Carcinoma

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Genetic Tests for Collecting Duct Carcinoma

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Genetic tests related to Collecting Duct Carcinoma:

# Genetic test Affiliating Genes
1 Kidney Medullary Carcinoma 29
Sources

Anatomical Context for Collecting Duct Carcinoma

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MalaCards organs/tissues related to Collecting Duct Carcinoma:

40
Kidney, Bone, Spinal Cord, Pancreas, Thyroid, Salivary Gland, Breast
Sources

Publications for Collecting Duct Carcinoma

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Articles related to Collecting Duct Carcinoma:

(show top 50) (show all 317)
# Title Authors PMID Year
1
Management and outcomes of patients with renal medullary carcinoma: a multicentre collaborative study. 52
27860149 2017
2
Personalized neoantigen-based immunotherapy for advanced collecting duct carcinoma: case report. 61
32439798 2020
3
PD-L1 expression and infiltration by CD4+ and FoxP3+ T cells are increased in Xp11 translocation renal cell carcinoma and indicate poor prognosis. 61
31841221 2020
4
Comprehensive Immunoprofiles of Renal Cell Carcinoma Subtypes. 61
32150988 2020
5
Collecting duct carcinoma of kidney: Masquerading as genitourinary tuberculosis - Lessons learnt. 61
31890601 2020
6
Immunologic Clearance of a BK Virus-associated Metastatic Renal Allograft Carcinoma. 61
32091486 2020
7
Clinical Features and Prognostic Outcome of Renal Collecting Duct Carcinoma: 12 Cases from a Single Institution. 61
32547196 2020
8
Complete response to combination therapy with nivolumab and ipilimumab for metastatic collecting duct carcinoma of the kidney. 61
31950015 2020
9
Renal Medullary Carcinoma. 61
30855171 2019
10
RNA Sequencing of Collecting Duct Renal Cell Carcinoma Suggests an Interaction between miRNA and Target Genes and a Predominance of Deregulated Solute Carrier Genes. 61
31878355 2019
11
Aggressive co-existence: Collecting duct and clear cell carcinoma in the same kidney. 61
32027594 2019
12
Targeted next-generation sequencing revealed distinct clinicopathologic and molecular features of VCL-ALK RCC: A unique case from an older patient without clinical evidence of sickle cell trait. 61
31563285 2019
13
Recent advances in the systemic treatment of metastatic non-clear cell renal cell carcinomas. 61
31183903 2019
14
[Renal cell carcinoma diagnosis and prognosis within the context of the WHO classification 2016]. 61
31093717 2019
15
Clinical Utility of Chromosome Genomic Array Testing for Unclassified and Advanced-Stage Renal Cell Carcinomas. 61
30383394 2019
16
Rechallenge of carboplatin-gemcitabine based chemotherapy for rapidly progressing metastatic collecting duct carcinoma of the kidney leading to a delayed and durable complete response: A case report. 61
30867800 2019
17
[Clinicopathological characteristics of fumarate hydratase-deficient renal cell carcinoma]. 61
30695864 2019
18
Nephron sparing surgery for metastatic collecting duct carcinoma. 61
32015906 2019
19
Renal Medullary Carcinoma: a Report of the Current Literature. 61
30656488 2019
20
Bilateral kidneys involvement of collecting duct carcinoma with cystic change: A case report. 61
30681608 2019
21
Nivolumab therapy for metastatic collecting duct carcinoma after nephrectomy: A case report. 61
30407350 2018
22
Kidney Carcinoma Ovarian Metastasis: Review of the Literature. 61
30693167 2018
23
Loss of Nuclear BAP1 Expression Is Associated with High WHO/ISUP Grade in Clear Cell Renal Cell Carcinoma. 61
30269473 2018
24
RNA sequencing of Xp11 translocation-associated cancers reveals novel gene fusions and distinctive clinicopathologic correlations. 61
29713041 2018
25
Sorafenib in combination with gemcitabine plus cisplatin chemotherapy in metastatic renal collecting duct carcinoma: A prospective, multicentre, single-arm, phase 2 study. 61
29933095 2018
26
Prognostic significance of neutrophil-to-lymphocyte ratio in collecting duct carcinoma. 61
29846639 2018
27
Collecting duct carcinoma kidney masquerading as hydatid cyst: A rare case report and review of literature. 61
30004068 2018
28
Management of Metastatic Collecting Duct Carcinoma: An Encouraging Result in a Patient Treated With Cabozantinib. 61
29656939 2018
29
High grade infiltrative adenocarcinomas of renal cell origin: New insights into classification, morphology, and molecular pathogenesis. 61
29665139 2018
30
BK virus-associated collecting duct carcinoma of the renal allograft in a kidney-pancreas allograft recipient. 61
29599935 2018
31
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma. 61
29309300 2018
32
[Clinicopathologic features with collecting duct carcinoma of kidney: report of 10 cases]. 61
29429165 2018
33
A Composite Renal Tumor with Dual Differentiation, Chromophobe and Collecting Duct Carcinoma. 61
30228921 2018
34
Response to nivolumab in metastatic collecting duct carcinoma expressing PD-L1: A case report. 61
29285361 2017
35
Survival of metastatic renal cell carcinoma patients continues to improve over time, even in targeted therapy era. 61
28932952 2017
36
[Clinical features and prognosis of rare subtypes of renal cell carcinoma]. 61
29224271 2017
37
A Case of Metastatic Collecting Duct Carcinoma Whose Massive Skull Bone Metastasis was Prominently Reossified by Gemcitabine Plus Cisplatin Chemotherapy Combined with Zoledronic Acid. 61
28932690 2017
38
Sarcomatoid Renal Cell Carcinoma and Collecting Duct Carcinoma: Discrimination From Common Renal Cell Carcinoma Subtypes and Benign RCC Mimics on Multiphasic MDCT. 61
28528853 2017
39
Collecting duct carcinoma of the kidney: Disease characteristics and treatment outcomes from the National Cancer Database. 61
28495554 2017
40
[Percutaneous biopsy of the renal masses under ultrasound: a single-center 14 years experience]. 61
28816276 2017
41
Clinicopathologic and Molecular Pathology of Collecting Duct Carcinoma and Related Renal Cell Carcinomas. 61
28181950 2017
42
Paraneoplastic Glomerulopathy in a Case of Collecting Duct Renal Cell Carcinoma. 61
28384915 2017
43
Collecting Duct Carcinoma of the Native Kidney in a Renal Transplant Recipient. 61
29062581 2017
44
[Bellini duct carcinoma: a new case study and literature review]. 61
28904694 2017
45
Enhanced MRI and 18F-FDG PET/CT Findings of Preoperative Primary Renal Collecting Duct Carcinoma. 61
27775947 2016
46
Bellini Duct Carcinoma: A Rare Entity. 61
27891395 2016
47
A renal adenocarcinoma in a corn snake (Pantherophis guttatus) resembling human collecting duct carcinoma. 61
27493139 2016
48
Characterization of Clinical Cases of Collecting Duct Carcinoma of the Kidney Assessed by Comprehensive Genomic Profiling. 61
26149668 2016
49
Surgical monotherapy may be a suitable therapeutic strategy for advanced collecting (Bellini) duct carcinoma: A case report and literature review. 61
27446340 2016
50
Unique Transcriptomic Profile of Collecting Duct Carcinomas Relative to Upper Tract Urothelial Carcinomas and other Kidney Carcinomas. 61
27484008 2016
Sources

Variations for Collecting Duct Carcinoma

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Cosmic variations for Collecting Duct Carcinoma:

9 (show top 50) (show all 896)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM94289415 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 12
2 COSM88289113 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 12
3 COSM88297043 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 12
4 COSM88292918 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 12
5 COSM88288959 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 12
6 COSM88292107 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 12
7 COSM88293667 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 12
8 COSM88289297 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 12
9 COSM88290436 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 12
10 COSM88292022 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 12
11 COSM88289282 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 12
12 COSM88291948 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 12
13 COSM88304413 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 12
14 COSM85360217 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176= 3:124737785-124737785 12
15 COSM87037342 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 12
16 COSM87037337 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1636G>T p.E546* 16:2065555-2065555 12
17 COSM87037202 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 12
18 COSM87030528 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3412C>T p.R1138* 16:2080179-2080179 12
19 COSM87037219 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1717-1G>C p.? 16:2070455-2070455 12
20 COSM87037265 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.774+1G>A p.? 16:2056770-2056770 12
21 COSM87049432 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 12
22 COSM87037238 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 12
23 COSM87037320 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.731G>T p.C244F 16:2056726-2056726 12
24 COSM87036869 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1119+1G>T p.? 16:2060814-2060814 12
25 COSM87037346 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.975+1G>T p.? 16:2058874-2058874 12
26 COSM87037324 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1189C>T p.Q397* 16:2061940-2061940 12
27 COSM87036879 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1600-1G>T p.? 16:2065518-2065518 12
28 COSM85719503 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2287C>T p.Q763* 9:132902709-132902709 12
29 COSM85723777 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1276G>T p.D426Y 9:132907358-132907358 12
30 COSM85727708 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1001C>A p.S334* 9:132911481-132911481 12
31 COSM85723822 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.508+1G>T p.? 9:132923347-132923347 12
32 COSM85723770 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1835T>A p.L612* 9:132905743-132905743 12
33 COSM89062698 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 12
34 COSM87921270 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.673-1G>T p.? 17:7674291-7674291 12
35 COSM88453050 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.97-2A>C p.? 17:7676274-7676274 12
36 COSM87898723 TP53 kidney,NS,carcinoma,collecting duct carcinoma c.817C>T p.R273C 17:7673803-7673803 12
37 COSM87908091 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.404G>T p.C135F 17:7675208-7675208 12
38 COSM87935614 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.738G>A p.M246I 17:7674225-7674225 12
39 COSM87898709 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.742C>T p.R248W 17:7674221-7674221 12
40 COSM87912624 TP53 kidney,NS,carcinoma,renal cell carcinoma unclassified c.374C>G p.T125R 17:7675995-7675995 12
41 COSM84063376 TBX3 kidney,NS,carcinoma,renal cell carcinoma unclassified c.510G>T p.W170C 12:114681026-114681026 12
42 COSM86748896 STAG2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2096+1G>A p.? 23:124065947-124065947 12
43 COSM86759462 STAG2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2860C>T p.R954C 23:124081464-124081464 12
44 COSM86766292 STAG2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1348A>T p.R450* 23:124057909-124057909 12
45 COSM100989027 SPOP kidney,NS,carcinoma,renal cell carcinoma unclassified c.265T>G p.L89V 17:49619321-49619321 12
46 COSM99830383 SPEN kidney,NS,carcinoma,renal medullary carcinoma c.2318G>A p.R773K 1:15928558-15928558 12
47 COSM90109955 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1014-2A>T p.? 22:23833570-23833570 12
48 COSM90104263 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1157G>A p.R386H 22:23834152-23834152 12
49 COSM89651052 SMARCA4 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3575G>A p.R1192H 19:11033318-11033318 12
50 COSM103036406 SETD2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1409C>A p.S470* 3:47123227-47123227 12
Sources

Expression for Collecting Duct Carcinoma

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Search GEO for disease gene expression data for Collecting Duct Carcinoma.
Sources

Pathways for Collecting Duct Carcinoma

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Pathways related to Collecting Duct Carcinoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cytoskeletal Signaling 4
11.51 VIM MUC1 KRT7 KRT20 KRT19
2
Cytoskeleton remodeling Neurofilaments 22
Show member pathways
 11.17 VIM KRT7 KRT19
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GO Terms for Collecting Duct Carcinoma

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Cellular components related to Collecting Duct Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.92 VIM KRT7 KRT20 KRT19

Biological processes related to Collecting Duct Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.65 VIM SMARCB1 SETD2 KRT7 KRT19
2 replicative senescence GO:0090399 9.16 MME CDKN2A
3 positive regulation of histone H4 acetylation GO:0090240 8.96 SMARCB1 MUC1
4 negative regulation of immature T cell proliferation in thymus GO:0033088 8.62 ERBB2 CDKN2A

Molecular functions related to Collecting Duct Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.8 VIM KRT20 KRT19
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Sources for Collecting Duct Carcinoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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