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BDC
MCID: CLL002
MIFTS: 54

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 20 58 15 17
Kidney Medullary Carcinoma 20 29 17 71
Renal Medullary Carcinoma 12 20 58
Collecting Duct Carcinoma of the Kidney 20 71
Bellini Duct Carcinoma 20 58
Bellini Carcinoma 20 58
Bdc 20 58
Cdc 20 58
Renal Carcinoma, Collecting Duct Type 12
Carcinoma of Renal Collecting Duct 12
Renal Collecting Duct Carcinoma 20
Bellini's Duct Carcinoma 20

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 44 D002292
NCIt 50 C6194
SNOMED-CT 67 733470002
MESH via Orphanet 45 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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GARD : 20 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 renal pelvis adenocarcinoma and kidney 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 Sodium citrate and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include kidney, spinal cord and pancreas, and related phenotypes are cardiovascular system and cellular

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

Wikipedia : 74 Collecting duct carcinoma (CDC) is a type of kidney cancer that originates in the papillary duct of the... more...

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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 752)
# Related Disease Score Top Affiliating Genes
1 renal pelvis adenocarcinoma 30.3 PAX8 KRT7 KRT19
2 kidney cancer 30.2 VHL SETD2 PBRM1 FLCN FHIT CDKN2A
3 mesenchymal chondrosarcoma 30.2 VIM SMARCB1 MUC1 KRT7
4 rhabdoid cancer 30.2 VIM SMARCB1 PBRM1 MUC1 CDKN2A
5 angiomyolipoma 30.1 VIM PAX8 MME KRT7
6 mucinous cystadenocarcinoma 30.1 VIM MUC1 KRT7 KRT20
7 papillary cystadenocarcinoma 30.0 KRT7 KRT20
8 in situ carcinoma 30.0 MUC1 ERBB2 CDKN2A
9 epithelioid sarcoma 29.9 VIM SMARCB1 PBRM1 MUC1 KRT7
10 clear cell adenocarcinoma 29.9 PAX8 KRT7 KRT20 AMACR
11 sarcomatoid carcinoma 29.9 VIM MUC1 KRT7 KRT20 KRT19 AMACR
12 bile duct cysts 29.9 KRT7 KRT19
13 renal cell carcinoma, nonpapillary 29.8 VIM VHL SETD2 PVALB PBRM1 PAX8
14 cystitis 29.8 VIM KRT7 KRT20
15 cystadenocarcinoma 29.8 VIM MUC1 KRT7 ERBB2
16 cavernous hemangioma 29.6 VIM MUC1 KRT7 KRT20 KRT19
17 papillary adenocarcinoma 29.5 VIM MUC1 KRT7 KRT19 ERBB2
18 transitional cell carcinoma 29.4 KRT7 KRT20 KRT19 FHIT ERBB2 CDKN2A
19 oral cancer 29.4 KRT19 FHIT CDKN2A
20 bilateral breast cancer 29.3 FHIT ERBB2 CDKN2A
21 tubular adenocarcinoma 29.3 MUC1 MME KRT7 KRT20 ERBB2
22 clear cell renal cell carcinoma 29.2 VIM VHL SETD2 PBRM1 PAX8 MUC1
23 papillary carcinoma 29.2 PAX8 MUC1 KRT7 KRT20 KRT19 ERBB2
24 bladder urothelial carcinoma 28.9 KRT7 KRT20 FHIT ERBB2 CDKN2A
25 renal cell carcinoma, papillary, 1 28.8 VHL SMARCB1 SETD2 PBRM1 PAX8 MME
26 carcinosarcoma 28.8 VIM PAX8 MUC1 MME KRT7 ERBB2
27 chromophobe renal cell carcinoma 28.8 VIM VHL SETD2 PVALB PBRM1 MUC1
28 leukemia, acute lymphoblastic 28.8 XIST SETD2 MME FHIT CDKN2A
29 oncocytoma 28.6 VIM VHL PVALB MUC1 MME KRT7
30 bladder cancer 27.9 XIST MUC1 LZTS1 KRT20 KRT19 FHIT
31 skin carcinoma 27.9 MME KRT7 KRT20 KRT19 FHIT ERBB2
32 brachydactyly, type c 11.5
33 renal cell carcinoma, xp11-associated 11.2
34 chagas disease 11.0
35 human immunodeficiency virus type 1 10.9
36 diphtheria 10.9
37 zika fever 10.9
38 cholera 10.9
39 sudden infant death syndrome 10.9
40 fragile x syndrome 10.9
41 cerebral palsy 10.9
42 skin creases, congenital symmetric circumferential, 1 10.9
43 toxocariasis 10.9
44 toxoplasmosis 10.9
45 congenital rubella 10.9
46 congenital zika syndrome 10.9
47 rare tumor 10.5
48 sickle cell disease 10.5
49 triiodothyronine receptor auxiliary protein 10.4
50 disease by infectious agent 10.4

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 CDKN2A ERBB2 FLCN KRT19 MME PAX8
2 cellular MP:0005384 10.15 CDKN2A ERBB2 FLCN KRT19 KRT7 LZTS1
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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 2 68-04-2
2
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
3
Daunorubicin Approved Phase 2 20830-81-3 30323
4
Gemcitabine Approved Phase 2 95058-81-4 60750
5
Ixazomib Approved, Investigational Phase 2 1072833-77-2
6
Ipilimumab Approved Phase 2 477202-00-9
7
nivolumab Approved Phase 2 946414-94-4
8
Bevacizumab Approved, Investigational Phase 2 216974-75-3
9
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
10
Glycine Approved, Nutraceutical, Vet_approved Phase 2 56-40-6 750
11 Immunosuppressive Agents Phase 2
12 Antibiotics, Antitubercular Phase 2
13 Immunologic Factors Phase 2
14 Anti-Infective Agents Phase 2
15 Citrate Phase 2
16 Antimetabolites Phase 2
17 Antiviral Agents Phase 2
18 HIV Protease Inhibitors Phase 2
19 Anti-Bacterial Agents Phase 2
20
Liposomal doxorubicin Phase 2 31703
21
protease inhibitors Phase 2
22 Neurotransmitter Agents Phase 2
23 Antineoplastic Agents, Immunological Phase 2
24 Immunoglobulins Phase 2
25 Antibodies, Monoclonal Phase 2
26 Antibodies Phase 2
27 Angiogenesis Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Phase II Trial of Nivolumab Plus Ipilimumab in Patients With Renal Medullary Carcinoma Recruiting NCT03274258 Phase 2
3 Prospective Phase II Study of Gemcitabine Plus Platinium Salt in Combination With Bevacizumab (Avastin®) for Metastatic Collecting Duct Carcinoma Recruiting NCT02363751 Phase 2 Bevacizumab
4 caBozantinib in cOllectiNg ductS Renal Cell cArcInoma (BONSAI) Recruiting NCT03354884 Phase 2 cabozantinib

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, Spinal Cord, Pancreas, Salivary Gland, T Cells, Neutrophil
Sources

Publications for Collecting Duct Carcinoma

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Articles related to Collecting Duct Carcinoma:

(show top 50) (show all 322)
# Title Authors PMID Year
1
Management and outcomes of patients with renal medullary carcinoma: a multicentre collaborative study. 20
27860149 2017
2
Immunologic Clearance of a BK Virus-associated Metastatic Renal Allograft Carcinoma. 61
32091486 2021
3
The Differential Diagnosis of Medullary-Based Renal Masses. 61
33406251 2021
4
[Metastatic renal cell carcinoma: a clinicopathological analysis of 196 cases]. 61
33287509 2020
5
A case of sarcomatoid renal collecting duct carcinoma with paraneoplastic syndrome and peripheral adhesions. 61
33102024 2020
6
Assessment of HER2 Protein Overexpression and Gene Amplification in Renal Collecting Duct Carcinoma: Therapeutic Implication. 61
33198197 2020
7
A rare case of collecting duct carcinoma with first presentation of respiratory symptoms. 61
33102066 2020
8
A huge collecting duct carcinoma of the kidney in an elderly woman: Diagnosis and managment challenge (uncommon condition). 61
33102074 2020
9
Cystic low-grade collecting duct renal carcinoma with liver compression - A challenging diagnosis and therapy: A case report. 61
32774768 2020
10
Personalized neoantigen-based immunotherapy for advanced collecting duct carcinoma: case report. 61
32439798 2020
11
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
12
Comprehensive Immunoprofiles of Renal Cell Carcinoma Subtypes. 61
32150988 2020
13
Collecting duct carcinoma of kidney: Masquerading as genitourinary tuberculosis - Lessons learnt. 61
31890601 2020
14
Complete response to combination therapy with nivolumab and ipilimumab for metastatic collecting duct carcinoma of the kidney. 61
31950015 2020
15
Clinical Features and Prognostic Outcome of Renal Collecting Duct Carcinoma: 12 Cases from a Single Institution. 61
32547196 2020
16
Rhabdoid collecting duct carcinoma with lymphangitic carcinomatosis causing acute lethal chylopericardium. 61
33072511 2020
17
Renal Medullary Carcinoma. 61
30855171 2019
18
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
19
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
20
Aggressive co-existence: Collecting duct and clear cell carcinoma in the same kidney. 61
32027594 2019
21
Recent advances in the systemic treatment of metastatic non-clear cell renal cell carcinomas. 61
31183903 2019
22
[Renal cell carcinoma diagnosis and prognosis within the context of the WHO classification 2016]. 61
31093717 2019
23
Clinical Utility of Chromosome Genomic Array Testing for Unclassified and Advanced-Stage Renal Cell Carcinomas. 61
30383394 2019
24
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
25
[Clinicopathological characteristics of fumarate hydratase-deficient renal cell carcinoma]. 61
30695864 2019
26
Renal Medullary Carcinoma: a Report of the Current Literature. 61
30656488 2019
27
Nephron sparing surgery for metastatic collecting duct carcinoma. 61
32015906 2019
28
Bilateral kidneys involvement of collecting duct carcinoma with cystic change: A case report. 61
30681608 2019
29
Nivolumab therapy for metastatic collecting duct carcinoma after nephrectomy: A case report. 61
30407350 2018
30
Kidney Carcinoma Ovarian Metastasis: Review of the Literature. 61
30693167 2018
31
Loss of Nuclear BAP1 Expression Is Associated with High WHO/ISUP Grade in Clear Cell Renal Cell Carcinoma. 61
30269473 2018
32
RNA sequencing of Xp11 translocation-associated cancers reveals novel gene fusions and distinctive clinicopathologic correlations. 61
29713041 2018
33
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
34
Collecting duct carcinoma kidney masquerading as hydatid cyst: A rare case report and review of literature. 61
30004068 2018
35
Prognostic significance of neutrophil-to-lymphocyte ratio in collecting duct carcinoma. 61
29846639 2018
36
Management of Metastatic Collecting Duct Carcinoma: An Encouraging Result in a Patient Treated With Cabozantinib. 61
29656939 2018
37
High grade infiltrative adenocarcinomas of renal cell origin: New insights into classification, morphology, and molecular pathogenesis. 61
29665139 2018
38
BK virus-associated collecting duct carcinoma of the renal allograft in a kidney-pancreas allograft recipient. 61
29599935 2018
39
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma. 61
29309300 2018
40
[Clinicopathologic features with collecting duct carcinoma of kidney: report of 10 cases]. 61
29429165 2018
41
A Composite Renal Tumor with Dual Differentiation, Chromophobe and Collecting Duct Carcinoma. 61
30228921 2018
42
Response to nivolumab in metastatic collecting duct carcinoma expressing PD-L1: A case report. 61
29285361 2017
43
[Clinical features and prognosis of rare subtypes of renal cell carcinoma]. 61
29224271 2017
44
Survival of metastatic renal cell carcinoma patients continues to improve over time, even in targeted therapy era. 61
28932952 2017
45
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
46
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
47
Collecting duct carcinoma of the kidney: Disease characteristics and treatment outcomes from the National Cancer Database. 61
28495554 2017
48
[Percutaneous biopsy of the renal masses under ultrasound: a single-center 14 years experience]. 61
28816276 2017
49
Clinicopathologic and Molecular Pathology of Collecting Duct Carcinoma and Related Renal Cell Carcinomas. 61
28181950 2017
50
Paraneoplastic Glomerulopathy in a Case of Collecting Duct Renal Cell Carcinoma. 61
28384915 2017
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 COSM108082894 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 15
2 COSM92179769 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 15
3 COSM94289415 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 15
4 COSM90652475 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 15
5 COSM90649111 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-3275A>T p.? 3:10146512-10146512 15
6 COSM88289113 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 15
7 COSM90649287 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 15
8 COSM88297043 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 15
9 COSM90650671 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-3261T>C p.? 3:10146526-10146526 15
10 COSM88292918 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 15
11 COSM88288959 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 15
12 COSM88292107 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 15
13 COSM90652409 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 15
14 COSM88293667 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 15
15 COSM90657935 VHL kidney,NS,carcinoma,renal cell c.362G>T p.C121F 3:10149808-10149808 15
16 COSM90649307 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 15
17 COSM88289297 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 15
18 COSM88290436 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 15
19 COSM88292022 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 15
20 COSM90653546 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.377G>A p.R126Q 3:10149823-10149823 15
21 COSM88289282 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 15
22 COSM88291948 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 15
23 COSM90654329 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.425C>A p.S142* 3:10149871-10149871 15
24 COSM90648957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.359G>A p.R120Q 3:10149805-10149805 15
25 COSM90652570 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 15
26 COSM90667186 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 15
27 COSM88304413 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 15
28 COSM85360217 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176= 3:124737785-124737785 15
29 COSM136625321 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1152+1G>T p.? 16:2060814-2060814 15
30 COSM101188763 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.584G>T p.C195F 16:2056726-2056726 15
31 COSM90412033 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 15
32 COSM102627070 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1717-1G>C p.? 16:2070455-2070455 15
33 COSM150363299 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 15
34 COSM101182982 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3136C>T p.R1046* 16:2080179-2080179 15
35 COSM136625326 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1633-1G>T p.? 16:2065518-2065518 15
36 COSM136625708 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2389-1G>C p.? 16:2074199-2074199 15
37 COSM150363390 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 15
38 COSM151751598 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1600-1G>T p.? 16:2065518-2065518 15
39 COSM136625557 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1009-1G>A p.? 16:2060669-2060669 15
40 COSM102627193 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.975+1G>T p.? 16:2058874-2058874 15
41 COSM150588440 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 15
42 COSM148998180 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 15
43 COSM151375260 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.731G>T p.C244F 16:2056726-2056726 15
44 COSM148989362 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 15
45 COSM101188445 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.972+1G>T p.? 16:2060814-2060814 15
46 COSM149810997 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 15
47 COSM87037342 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 15
48 COSM149804363 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3280C>T p.R1094* 16:2080179-2080179 15
49 COSM90411912 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 15
50 COSM147703838 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1600-1G>T p.? 16:2065518-2065518 15
Sources

Expression for Collecting Duct Carcinoma

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Search GEO for disease gene expression data for Collecting Duct Carcinoma.
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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 23
Show member pathways
 11.17 VIM KRT7 KRT19
Sources

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 9.55 VIM SMARCB1 SETD2 KRT7 KRT19
2 replicative senescence GO:0090399 9.26 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 9.13 VIM KRT20 KRT19
2 p53 binding GO:0002039 8.8 SMARCB1 MUC1 CDKN2A
Sources

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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