CRCC
MCID: CHR177
MIFTS: 54

Chromophobe Renal Cell Carcinoma (CRCC)

Categories: Cancer diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Chromophobe Renal Cell Carcinoma

MalaCards integrated aliases for Chromophobe Renal Cell Carcinoma:

Name: Chromophobe Renal Cell Carcinoma 39 12 54 60 6 15 17 74
Renal Cell Carcinoma, Chromophobe Cell 12
Chromophobe Renal Cell Adenocarcinoma 60
Chromophobe Carcinoma of Kidney 12
Chromophobe Renal Carcinoma 77
Chromophobe Adenocarcinoma 12
Chromophobe Carcinoma 74
Kidney Chromophobe 12
Chrcc 54
Crcc 54

Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4471
MeSH 45 D002292
NCIt 51 C4146
ICD10 via Orphanet 35 C64
UMLS via Orphanet 75 C1266042
Orphanet 60 ORPHA319303

Summaries for Chromophobe Renal Cell Carcinoma

NIH Rare Diseases : 54 Chromophobe renal cell carcinoma is a rare subtype of the most common form of kidney cancer called renal cell carcinoma (RCC). This type of cancer forms in the cells lining the small tubules in the kidney. These tubules help filter waste from the blood, making urine. Chromophobe RCC accounts for about 5% of all RCC cases, and it is frequently diagnosed between ages 40 and 50. It is typically diagnosed in stage I or stage II, and has an overall better prognosis than other types of RCC. Treatment generally involves surgery.

MalaCards based summary : Chromophobe Renal Cell Carcinoma, also known as renal cell carcinoma, chromophobe cell, is related to renal cell carcinoma, nonpapillary and renal oncocytoma, and has symptoms including flank pain An important gene associated with Chromophobe Renal Cell Carcinoma is FLCN (Folliculin), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. The drugs Bevacizumab and Sorafenib have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and liver.

Disease Ontology : 12 A renal cell carcinoma that has material basis in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.

Wikipedia : 77 Renal cell carcinoma (RCC) is a kidney cancer that originates in the lining of the proximal convoluted... more...

Related Diseases for Chromophobe Renal Cell Carcinoma

Diseases related to Chromophobe Renal Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, nonpapillary 31.9 CDH16 CLDN8 EPCAM FLCN HNF1A HNF1B
2 renal oncocytoma 31.0 CDH16 CLDN8 EPCAM FLCN KIT KRT7
3 oncocytoma 30.8 CDH16 CLDN8 FLCN KIT KRT18 KRT7
4 clear cell renal cell carcinoma 30.8 CDH16 FLCN HNF1A KRT7 MME
5 seminal vesicle tumor 30.4 KRT18 KRT7
6 renal cell carcinoma, papillary, 1 30.3 CDH16 KIT KRT7 MME
7 eosinophilic variant of chromophobe renal cell carcinoma 12.6
8 classic variant of chromophobe renal cell carcinoma 12.4
9 birt-hogg-dube syndrome 11.7
10 renal cell carcinoma, xp11-associated 11.3
11 krukenberg carcinoma 10.5 HNF1B KRT7
12 ceruminoma 10.5 KIT KRT7
13 jejunal cancer 10.5 KIT KRT7
14 balloon cell malignant melanoma 10.4 KRT7 MME
15 intratubular embryonal carcinoma 10.4 KIT KRT7
16 cervical adenoma malignum 10.4 KRT7 MME
17 cribriform carcinoma 10.4 KIT KRT7
18 adenoid basal cell carcinoma 10.4 KIT KRT7
19 maturity-onset diabetes of the young, type 4 10.4 HNF1A HNF1B
20 cervical mucinous adenocarcinoma 10.4 KRT7 MME
21 gallbladder sarcoma 10.4 KIT KRT18
22 maturity-onset diabetes of the young, type 2 10.4 HNF1A HNF1B
23 endolymphatic sac tumor 10.4 KRT7 KRT8
24 benign breast phyllodes tumor 10.4 KIT MME
25 epithelioid trophoblastic tumor 10.4 KRT18 KRT7
26 hidrocystoma 10.4 KRT7 KRT8
27 polycystic liver disease 1 with or without kidney cysts 10.4 FLCN HNF1B KRT7
28 adenoid squamous cell carcinoma 10.4 KRT7 KRT8
29 bladder lymphoma 10.4 KRT7 MME
30 neurenteric cyst 10.4 KRT18 KRT8
31 apocrine sweat gland neoplasm 10.4 KRT7 KRT8
32 adenomyoma 10.4 KRT7 MME
33 nasal cavity cancer 10.3 KRT7 KRT8
34 cavernous hemangioma 10.3 KIT KRT7 S100A1
35 malignant leydig cell tumor 10.3 KIT KRT7 MME
36 clear cell papillary renal cell carcinoma 10.3 HNF1A KRT7 MME
37 mixed cell type cancer 10.3 KIT KRT7 MME
38 rete testis adenocarcinoma 10.3 KIT MME
39 cystic nephroma 10.3 KIT MME
40 warthin tumor 10.3 KIT KRT18 KRT7
41 carcinosarcoma 10.3 KIT KRT7 MME
42 ovarian lymphoma 10.3 KRT18 MME
43 bile duct adenocarcinoma 10.3 EPCAM KRT7 S100A1
44 adenosquamous carcinoma 10.3 KIT KRT7 KRT8
45 leiomyoma 10.3 KIT MME S100A1
46 embryoma 10.3 HNF1B KIT
47 merkel cell carcinoma 10.3 KIT KRT7 KRT8
48 brooke-spiegler syndrome 10.3 KRT7 KRT8
49 sarcoma, synovial 10.3 KIT KRT7 KRT8
50 gastrointestinal system cancer 10.3 EPCAM KIT KRT7

Graphical network of the top 20 diseases related to Chromophobe Renal Cell Carcinoma:



Diseases related to Chromophobe Renal Cell Carcinoma

Symptoms & Phenotypes for Chromophobe Renal Cell Carcinoma

UMLS symptoms related to Chromophobe Renal Cell Carcinoma:


flank pain

Drugs & Therapeutics for Chromophobe Renal Cell Carcinoma

Drugs for Chromophobe Renal Cell Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
2
Sorafenib Approved, Investigational Phase 1, Phase 2 284461-73-0 216239 406563
3
nivolumab Approved Phase 2 946414-94-4
4
Ipilimumab Approved Phase 2 477202-00-9
5 Angiogenesis Inhibitors Phase 1, Phase 2
6 Protein Kinase Inhibitors Phase 1, Phase 2
7 Angiogenesis Modulating Agents Phase 1, Phase 2
8 Antineoplastic Agents, Immunological Phase 1, Phase 2,Phase 2
9 Pharmaceutical Solutions Phase 2
10 Antibodies, Monoclonal Phase 2
11 Immunoglobulins Phase 2
12 Antibodies Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sorafenib Tosylate and Bevacizumab in Treating Patients With Advanced Kidney Cancer Completed NCT00126503 Phase 1, Phase 2 Sorafenib Tosylate
2 Phase II Sequential Treatment Trial of Single Agent Nivolumab, Then Combination Ipilimumab + Nivolumab in Metastatic or Unresectable Non-Clear Cell Renal Cell Carcinoma (ANZUP1602) Recruiting NCT03177239 Phase 2 Nivolumab;Ipilimumab
3 Pazopanib Hydrochloride in Treating Patients With Metastatic Kidney Cancer Active, not recruiting NCT01767636 Phase 2 Pazopanib Hydrochloride
4 ANZUP - Non-clear Cell Post Immunotherapy CABozantinib (UNICAB) Not yet recruiting NCT03685448 Phase 2 Cabozantinib
5 Cabozantinib S-Malate, Nivolumab, and Ipilimumab in Treating Patients With Metastatic Genitourinary Tumors Not yet recruiting NCT03866382 Phase 2 Cabozantinib;Cabozantinib S-malate
6 A Study Evaluating the Safety, Pharmacokinetics and Anti-Tumor Activity of ABBV-176 in Subjects With Advanced Solid Tumors Likely to Express Prolactin Receptor (PRLR) Terminated NCT03145909 Phase 1 ABBV-176

Search NIH Clinical Center for Chromophobe Renal Cell Carcinoma

Genetic Tests for Chromophobe Renal Cell Carcinoma

Anatomical Context for Chromophobe Renal Cell Carcinoma

MalaCards organs/tissues related to Chromophobe Renal Cell Carcinoma:

42
Kidney, Brain, Liver, Breast, T Cells, Smooth Muscle, Myeloid

Publications for Chromophobe Renal Cell Carcinoma

Articles related to Chromophobe Renal Cell Carcinoma:

(show top 50) (show all 267)
# Title Authors Year
1
A rare case of tumor-to-tumor metastasis: Prostate cancer to chromophobe renal cell carcinoma. ( 30505689 )
2019
2
A Case of Stage IV Chromophobe Renal Cell Carcinoma Treated with the Oncolytic ECHO-7 Virus, Rigvir®. ( 30635548 )
2019
3
Discrimination of oncocytoma and chromophobe renal cell carcinoma using MRI. ( 30644365 )
2019
4
Chromophobe renal cell carcinoma or oncocytoma: a manner of challenge in frozen section diagnosis. ( 30794153 )
2019
5
Diagnostic Accuracy of Unenhanced CT Analysis to Differentiate Low-Grade From High-Grade Chromophobe Renal Cell Carcinoma. ( 29547054 )
2018
6
Next-Generation Sequencing to Detect Deletion of RB1 and ERBB4 Genes in Chromophobe Renal Cell Carcinoma: A Potential Role in Distinguishing Chromophobe Renal Cell Carcinoma from Renal Oncocytoma. ( 29353061 )
2018
7
Leptin and its receptor: can they help to differentiate chromophobe renal cell carcinoma from renal oncocytoma? ( 29970253 )
2018
8
Biallelic <i>TSC2</i> Mutations in a Patient With Chromophobe Renal Cell Carcinoma Showing Extraordinary Response to Temsirolimus. ( 29632054 )
2018
9
Variation in nuclear size and PD-L2 positivity correlate with aggressive chromophobe renal cell carcinoma. ( 29661724 )
2018
10
Chromophobe Renal Cell Carcinoma With Retrograde Venous Invasion and Gain of Chromosome 21: Potential Harbingers of Aggressive Clinical Behavior. ( 29560759 )
2018
11
Identification and Validation of Radiographic Enhancement for Reliable Differentiation of CD117(+) Benign Renal Oncocytoma and Chromophobe Renal Cell Carcinoma. ( 29752278 )
2018
12
Cytogenetic and immunohistochemical study of 42 pigmented microcystic chromophobe renal cell carcinoma (PMChRCC). ( 29931469 )
2018
13
Impairment of gamma-glutamyl transferase 1 activity in the metabolic pathogenesis of chromophobe renal cell carcinoma. ( 29891694 )
2018
14
FDG PET/CT of Chromophobe Renal Cell Carcinoma With Sarcomatoid Differentiation. ( 29485439 )
2018
15
Localized chromophobe renal cell carcinoma: preoperative imaging judgment and laparoscopic simple enucleation for treatment. ( 29757571 )
2018
16
Significant response to nivolumab for metastatic chromophobe renal cell carcinoma with sarcomatoid differentiation: a case report. ( 29669553 )
2018
17
Chromophobe renal cell carcinoma with sarcomatoid differentiation containing various heterologous components. ( 30015409 )
2018
18
Pathologically examining a minimum of three lymph nodes could better determine node negativity in patients with non-metastatic chromophobe renal cell carcinoma. ( 30137442 )
2018
19
Caspase 3 as a Novel Marker to Distinguish Chromophobe Renal Cell Carcinoma from Oncocytoma. ( 30467700 )
2018
20
Identification of biomarkers of chromophobe renal cell carcinoma by weighted gene co-expression network analysis. ( 30564062 )
2018
21
Clinicopathologic and Genomic Factors Associated With Oncologic Outcome in Patients With Stage III to IV Chromophobe Renal Cell Carcinoma. ( 30639042 )
2018
22
Clinicopathological characteristics of KIT and protein kinase C-I' expression in adenoid cystic carcinoma: comparison with chromophobe renal cell carcinoma and gastrointestinal stromal tumour. ( 28561935 )
2017
23
Rapid Response to Nivolumab in a Patient With Sarcomatoid Transformation of Chromophobe Renal Cell Carcinoma. ( 28673798 )
2017
24
Chromophobe renal cell carcinoma-like thyroid carcinoma: A novel clinicopathologic entity possibly associated with tuberous sclerosis complex. ( 28680002 )
2017
25
Erythrocytosis caused by giant chromophobe renal cell carcinoma: a case report indicating a 9-year misdiagnosis of polycythemia vera. ( 28877745 )
2017
26
c-Met in chromophobe renal cell carcinoma. ( 28035577 )
2017
27
Exploring Multiphoton Microscopy as a Novel Tool to Differentiate Chromophobe Renal Cell Carcinoma From Oncocytoma in Fixed Tissue Sections. ( 29219617 )
2017
28
Synchronous urinary bladder metastasis of chromophobe renal cell carcinoma. ( 28679514 )
2017
29
PD-L2: A prognostic marker in chromophobe renal cell carcinoma? ( 28353093 )
2017
30
Genomic landscape and evolution of metastatic chromophobe renal cell carcinoma. ( 28614790 )
2017
31
Genomic and metabolic characterization of a chromophobe renal cell carcinoma cell line model (UOK276). ( 28736828 )
2017
32
Incidental Eosinophilic Chromophobe Renal Cell Carcinoma in Renal Allograft. ( 29130016 )
2017
33
Prognostic Value of Clinical and Pathological Features in Chinese Patients with Chromophobe Renal Cell Carcinoma: A 10-Year Single-Center Study. ( 29151931 )
2017
34
Quantitative computer-aided diagnostic algorithm for automated detection of peak lesion attenuation in differentiating clear cell from papillary and chromophobe renal cell carcinoma, oncocytoma, and fat-poor angiomyolipoma on multiphasic multidetector computed tomography. ( 28280876 )
2017
35
Chromophobe Renal Cell Carcinoma and the Synchronous Presence of Primary Colon Malignancies. Is There a Relation? ( 28607876 )
2017
36
Metastatic chromophobe renal cell carcinoma treated with targeted therapies: A Renal Cross Channel GroupA study. ( 28549248 )
2017
37
Diagnostic utility of vimentin, CD117, cytokeratin-7 and caveolin-1 in differentiation between clear cell renal cell carcinoma, chromophobe renal cell carcinoma and oncocytoma. ( 30023241 )
2017
38
Outcomes of Metastatic Chromophobe Renal Cell Carcinoma (chrRCC) in the Targeted Therapy Era: Results from the International Metastatic Renal Cell Cancer Database Consortium (IMDC). ( 30334003 )
2017
39
Genetic alterations of HER genes in chromophobe renal cell carcinoma. ( 26998131 )
2016
40
Selected tumor markers in the routine diagnosis of chromophobe renal cell carcinoma. ( 27478468 )
2016
41
Metastatic chromophobe renal cell carcinoma to the brain. ( 26589090 )
2016
42
Tremendous non-progressed chromophobe renal cell carcinoma for eight years performed by laparoscope. ( 28096929 )
2016
43
PD-1/PD-L1 expression in chromophobe renal cell carcinoma: An immunological exception? ( 27696122 )
2016
44
A systematic review and meta-analysis of immunohistochemical biomarkers that differentiate chromophobe renal cell carcinoma from renal oncocytoma. ( 26951082 )
2016
45
Antitumor Response to Combined Antiangiogenic and Cytotoxic Chemotherapy in Recurrent Metastatic Chromophobe Renal Cell Carcinoma: Response Signatures and Proteomic Correlates. ( 26684814 )
2016
46
Biomarker and competing endogenous RNA potential of tumor-specific long noncoding RNA in chromophobe renal cell carcinoma. ( 27799788 )
2016
47
An atypical case of dermatomyositis associated with chromophobe renal cell carcinoma. ( 26786527 )
2016
48
Chromophobe renal cell carcinoma occurring in the renal allograft of a transplant recipient presenting with weight loss. ( 26787581 )
2016
49
Does chromophobe renal cell carcinoma have better survival than clear cell renal cell carcinoma? A clinical-based cohort study and meta-analysis. ( 26589610 )
2016
50
Dysfunctional miRNA-Mediated Regulation in Chromophobe Renal Cell Carcinoma. ( 27258182 )
2016

Variations for Chromophobe Renal Cell Carcinoma

ClinVar genetic disease variations for Chromophobe Renal Cell Carcinoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FLCN FLCN, 2-BP DEL, 1284TC AND 2-BP INS, 1284AC indel Pathogenic
2 HNF1B NM_000458.3(HNF1B): c.46delC (p.Leu16Cysfs) deletion Pathogenic rs587776771 GRCh37 Chromosome 17, 36104830: 36104830
3 HNF1B NM_000458.3(HNF1B): c.46delC (p.Leu16Cysfs) deletion Pathogenic rs587776771 GRCh38 Chromosome 17, 37744839: 37744839
4 HNF1A NM_000545.6(HNF1A): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs137853247 GRCh37 Chromosome 12, 121416663: 121416663
5 HNF1A NM_000545.6(HNF1A): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs137853247 GRCh38 Chromosome 12, 120978860: 120978860

Cosmic variations for Chromophobe Renal Cell Carcinoma:

9 (show top 50) (show all 2286)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM249350 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2363A>C p.Q788P 2:184937759-184937759 0
2 COSM249389 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.121G>C p.E41Q 2:184866378-184866378 0
3 COSM249348 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 0
4 COSM249454 ZNF521 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3298A>G p.S1100G 18:25224620-25224620 0
5 COSM30510 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3559G>A p.V1187I 16:49626188-49626188 0
6 COSM6970086 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.7052G>A p.C2351Y 16:72795630-72795630 0
7 COSM6940591 ZFHX3 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.4509G>T p.Q1503H 16:72798173-72798173 0
8 COSM3276983 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.745G>A p.G249S 16:72959401-72959401 0
9 COSM6961023 YES1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1069T>A p.L357I 18:739803-739803 0
10 COSM6935891 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.374C>G p.A125G 11:102114196-102114196 0
11 COSM6946890 XIAP kidney,NS,carcinoma,clear cell renal cell carcinoma c.1001A>T p.K334M 23:123891261-123891261 0
12 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 0
13 COSM249421 WWP2 kidney,NS,carcinoma,clear cell renal cell carcinoma c.2056G>C p.E686Q 16:69936391-69936391 0
14 COSM1272065 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.332C>A p.P111H 11:32434810-32434810 0
15 COSM6201648 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1228+1G>C p.? 11:32391971-32391971 0
16 COSM20759 WNK3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3809C>A p.T1270N 23:54238942-54238942 0
17 COSM249385 VWA8 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1286A>G p.Q429R 13:41865963-41865963 0
18 COSM249519 VWA8 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3300A>T p.E1100D 13:41701456-41701456 0
19 COSM6930635 VTCN1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.98-1G>T p.? 1:117156922-117156922 0
20 COSM26611 VPS13B kidney,NS,carcinoma,clear cell renal cell carcinoma c.2580C>T p.Y860Y 8:99274262-99274262 0
21 COSM14311 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.499C>T p.R167W 3:10149822-10149822 0
22 COSM18074 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.193T>C p.S65P 3:10142040-10142040 0
23 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 0
24 COSM30224 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.326T>G p.I109S 3:10142173-10142173 0
25 COSM17715 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.221T>A p.V74D 3:10142068-10142068 0
26 COSM17855 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.233A>G p.N78S 3:10142080-10142080 0
27 COSM18152 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.463G>A p.V155M 3:10146636-10146636 0
28 COSM14375 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.343C>T p.H115Y 3:10146516-10146516 0
29 COSM18024 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.598C>T p.R200W 3:10149921-10149921 0
30 COSM18350 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.256C>T p.P86S 3:10142103-10142103 0
31 COSM14368 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.473T>A p.L158Q 3:10149796-10149796 0
32 COSM14390 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.269A>T p.N90I 3:10142116-10142116 0
33 COSM249129 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.163G>T p.E55* 3:10142010-10142010 0
34 COSM1731995 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.328C>A p.H110N 3:10142175-10142175 0
35 COSM14389 VHL kidney,NS,renal cell carcinoma,chromophobe cell c.452T>G p.I151S 3:10146625-10146625 0
36 COSM18069 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.407T>A p.F136Y 3:10146580-10146580 0
37 COSM6918107 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.302T>G p.L101R 3:10142149-10142149 0
38 COSM25682 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.430G>T p.G144* 3:10146603-10146603 0
39 COSM3364888 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.221T>G p.V74G 3:10142068-10142068 0
40 COSM18192 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.350G>T p.W117L 3:10146523-10146523 0
41 COSM97092 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.241C>A p.P81T 3:10142088-10142088 0
42 COSM14363 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.458T>C p.L153P 3:10146631-10146631 0
43 COSM34005 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.194C>G p.S65W 3:10142041-10142041 0
44 COSM249280 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.264G>A p.W88* 3:10142111-10142111 0
45 COSM17612 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.481C>T p.R161* 3:10149804-10149804 0
46 COSM17875 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.234T>G p.N78K 3:10142081-10142081 0
47 COSM14407 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.388G>C p.V130L 3:10146561-10146561 0
48 COSM17854 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.551T>C p.L184P 3:10149874-10149874 0
49 COSM18346 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.341G>C p.G114A 3:10146514-10146514 0
50 COSM33993 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.404T>A p.L135* 3:10146577-10146577 0

Expression for Chromophobe Renal Cell Carcinoma

LifeMap Discovery
Genes differentially expressed in tissues of Chromophobe Renal Cell Carcinoma patients vs. healthy controls: 35 (show top 50) (show all 297)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Kidney - 10.96 0.000
2 NAT8 N-acetyltransferase 8 (GCN5-related, putative) Kidney - 9.85 0.000
3 CALB1 calbindin 1, 28kDa Kidney - 9.44 0.000
4 GLYAT glycine-N-acyltransferase Kidney - 9.24 0.000
5 KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16 Kidney - 9.21 0.000
6 FABP1 fatty acid binding protein 1, liver Kidney - 8.95 0.000
7 MIOX myo-inositol oxygenase Kidney - 8.89 0.000
8 PLG plasminogen Kidney - 8.67 0.000
9 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) Kidney - 8.34 0.000
10 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) Kidney + 8.22 0.000
11 G6PC glucose-6-phosphatase, catalytic subunit Kidney - 8.14 0.000
12 SLC16A9 solute carrier family 16, member 9 Kidney - 8.05 0.000
13 ACMSD aminocarboxymuconate semialdehyde decarboxylase Kidney - 8.04 0.000
14 ALDOB aldolase B, fructose-bisphosphate Kidney - 8.03 0.000
15 GSTA1 glutathione S-transferase alpha 1 Kidney - 8.01 0.000
16 SCNN1G sodium channel, non voltage gated 1 gamma subunit Kidney - 7.85 0.000
17 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 Kidney - 7.84 0.000
18 PDZK1IP1 PDZK1 interacting protein 1 Kidney - 7.83 0.000
19 TSPAN8 tetraspanin 8 Kidney - 7.82 0.000
20 BHMT betaine--homocysteine S-methyltransferase Kidney - 7.75 0.000
21 FMO1 flavin containing monooxygenase 1 Kidney - 7.57 0.000
22 BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 Kidney - 7.57 0.000
23 DZIP1 DAZ interacting zinc finger protein 1 Kidney - 7.56 0.000
24 RNF128 ring finger protein 128, E3 ubiquitin protein ligase Kidney - 7.53 0.000
25 ANPEP alanyl (membrane) aminopeptidase Kidney - 7.51 0.000
26 MUC15 mucin 15, cell surface associated Kidney - 7.45 0.000
27 AGXT2 alanine--glyoxylate aminotransferase 2 Kidney - 7.43 0.000
28 ALDH8A1 aldehyde dehydrogenase 8 family, member A1 Kidney - 7.36 0.000
29 SOSTDC1 sclerostin domain containing 1 Kidney - 7.31 0.000
30 SLC7A13 solute carrier family 7 (anionic amino acid transporter), member 13 Kidney - 7.31 0.000
31 FAM151A family with sequence similarity 151, member A Kidney - 7.26 0.000
32 TOX thymocyte selection-associated high mobility group box Kidney - 7.23 0.000
33 SLC22A8 solute carrier family 22 (organic anion transporter), member 8 Kidney - 7.20 0.000
34 DHRS2 dehydrogenase/reductase (SDR family) member 2 Kidney + 7.18 0.000
35 UGT2A3 UDP glucuronosyltransferase 2 family, polypeptide A3 Kidney - 7.13 0.002
36 TYRP1 tyrosinase-related protein 1 Kidney - 7.11 0.000
37 GPC5 glypican 5 Kidney - 7.10 0.000
38 PDZK1 PDZ domain containing 1 Kidney - 7.09 0.002
39 KRT19 keratin 19, type I Kidney - 7.03 0.000
40 FGFR3 fibroblast growth factor receptor 3 Kidney - 7.02 0.000
41 CLIC5 chloride intracellular channel 5 Kidney - 7.02 0.001
42 SLC6A13 solute carrier family 6 (neurotransmitter transporter), member 13 Kidney - 6.97 0.000
43 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 Kidney - 6.90 0.000
44 CYP4A22 cytochrome P450, family 4, subfamily A, polypeptide 22 Kidney - 6.89 0.000
45 SLC22A2 solute carrier family 22 (organic cation transporter), member 2 Kidney - 6.89 0.000
46 GLYATL1 glycine-N-acyltransferase-like 1 Kidney - 6.89 0.000
47 GBA3 glucosidase, beta, acid 3 (gene/pseudogene) Kidney - 6.88 0.000
48 UPB1 ureidopropionase, beta Kidney - 6.88 0.000
49 LUM lumican Kidney - 6.88 0.000
50 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 Kidney - 6.82 0.000
Search GEO for disease gene expression data for Chromophobe Renal Cell Carcinoma.

Pathways for Chromophobe Renal Cell Carcinoma

Pathways related to Chromophobe Renal Cell Carcinoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 HNF1A HNF1B KIT KRT18 KRT7 KRT8
2 12.05 EPCAM KRT18 KRT7 KRT8
3
Show member pathways
11.71 KRT18 KRT7 KRT8 PRSS8
4
Show member pathways
11.37 KRT18 KRT7 KRT8
5 10.67 EPCAM KIT MME

GO Terms for Chromophobe Renal Cell Carcinoma

Cellular components related to Chromophobe Renal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.76 AMY1A CDH16 EPCAM KRT18 KRT7 KRT8
2 apicolateral plasma membrane GO:0016327 8.96 CLDN8 KRT8
3 keratin filament GO:0045095 8.8 KRT18 KRT7 KRT8

Biological processes related to Chromophobe Renal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epithelial cell proliferation GO:0050673 9.32 HNF1B KIT
2 hepatocyte apoptotic process GO:0097284 9.26 KRT18 KRT8
3 cornification GO:0070268 9.26 KRT18 KRT7 KRT8 PRSS8
4 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.16 HNF1A HNF1B
5 regulation of pronephros size GO:0035565 8.62 HNF1A HNF1B

Molecular functions related to Chromophobe Renal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.26 EPCAM FLCN HNF1B KRT8
2 cadherin binding involved in cell-cell adhesion GO:0098641 9.16 EPCAM KRT18
3 structural molecule activity GO:0005198 8.92 CLDN8 KRT18 KRT7 KRT8

Sources for Chromophobe Renal Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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