MCID: CHR177
MIFTS: 55

Chromophobe Renal Cell Carcinoma

Categories: Rare diseases, Nephrological diseases, Cancer diseases

Aliases & Classifications for Chromophobe Renal Cell Carcinoma

MalaCards integrated aliases for Chromophobe Renal Cell Carcinoma:

Name: Chromophobe Renal Cell Carcinoma 38 12 53 59 6 15 73
Renal Cell Carcinoma, Chromophobe Cell 12
Chromophobe Renal Cell Adenocarcinoma 59
Chromophobe Carcinoma of Kidney 12
Chromophobe Renal Carcinoma 76
Chromophobe Adenocarcinoma 12
Chromophobe Carcinoma 73
Kidney Chromophobe 12
Chrcc 53
Crcc 53

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4471
MeSH 44 D002292
NCIt 50 C4146
SNOMED-CT 68 128667008
Orphanet 59 ORPHA319303
UMLS via Orphanet 74 C1266042
ICD10 via Orphanet 34 C64

Summaries for Chromophobe Renal Cell Carcinoma

NIH Rare Diseases : 53 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 clear cell renal cell carcinoma and renal cell carcinoma, nonpapillary, 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 Cytoskeletal Signaling and Keratinization. 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 : 76 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 92)
# Related Disease Score Top Affiliating Genes
1 clear cell renal cell carcinoma 31.0 FLCN HNF1A KRT7 MME
2 renal cell carcinoma, nonpapillary 30.9 CDH16 CLDN8 EPCAM FLCN HNF1A HNF1B
3 renal oncocytoma 30.5 CDH16 CLDN8 EPCAM FLCN KIT KRT7
4 seminal vesicle tumor 30.5 KRT18 KRT7
5 renal cell carcinoma, papillary, 1 30.1 CDH16 FLCN KIT KRT7 MME
6 oncocytoma 30.0 CDH16 CLDN8 FLCN KIT KRT18 KRT7
7 adenoid cystic carcinoma 29.4 CCND1 KIT KRT7
8 eosinophilic variant of chromophobe renal cell carcinoma 12.4
9 classic variant of chromophobe renal cell carcinoma 12.2
10 birt-hogg-dube syndrome 11.5
11 renal cell carcinoma, xp11-associated 11.2
12 jejunal cancer 10.9 KIT KRT7
13 krukenberg carcinoma 10.9 HNF1B KRT7
14 balloon cell malignant melanoma 10.9 KRT7 MME
15 cervical adenoma malignum 10.9 KRT7 MME
16 cribriform carcinoma 10.9 KIT KRT7
17 malignant mixed mullerian tumor 10.8 KIT KRT7
18 gallbladder sarcoma 10.8 KIT KRT18
19 adenoid basal cell carcinoma 10.8 KIT KRT7
20 cervical mucinous adenocarcinoma 10.8 KRT7 MME
21 intratubular embryonal carcinoma 10.8 KIT KRT7
22 epithelioid trophoblastic tumor 10.8 KRT18 KRT7
23 endolymphatic sac tumor 10.8 KRT7 KRT8
24 benign breast phyllodes tumor 10.8 KIT MME
25 hidrocystoma 10.7 KRT7 KRT8
26 neurenteric cyst 10.7 KRT18 KRT8
27 polycystic liver disease 1 with or without kidney cysts 10.7 FLCN HNF1B KRT7
28 bladder lymphoma 10.7 KRT7 MME
29 apocrine sweat gland neoplasm 10.7 KRT7 KRT8
30 adenomyoma 10.7 KRT7 MME
31 nasal cavity cancer 10.7 KRT7 KRT8
32 malignant leydig cell tumor 10.7 KIT KRT7 MME
33 mixed cell type cancer 10.7 KIT KRT7 MME
34 clear cell papillary renal cell carcinoma 10.7 HNF1A KRT7 MME
35 rete testis adenocarcinoma 10.6 KIT MME
36 organ system benign neoplasm 10.6 KIT KRT7 MME
37 ovarian lymphoma 10.6 KRT18 MME
38 jejunal adenocarcinoma 10.6 CCND1 KRT7
39 cystic nephroma 10.6 KIT MME
40 gastrointestinal system benign neoplasm 10.6 CCND1 KIT KRT7
41 metanephric adenoma 10.5 KRT18 KRT7
42 merkel cell carcinoma 10.5 KIT KRT7 KRT8
43 cell type cancer 10.5 CCND1 KIT KRT7
44 proliferating trichilemmal cyst 10.5 KRT18 KRT7 KRT8
45 sarcoma, synovial 10.5 KIT KRT7 KRT8
46 cutaneous adenocystic carcinoma 10.5 KRT18 KRT7 KRT8
47 lymphoepithelioma-like carcinoma 10.5 KRT18 KRT7 KRT8
48 mammary paget's disease 10.5 KRT18 KRT7 KRT8
49 brooke-spiegler syndrome 10.5 KRT7 KRT8
50 intraneural perineurioma 10.5 KRT18 KRT7 KRT8

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 21)
# 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
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
5
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2,Phase 2 59-67-6 938
6
Nicotinamide Approved, Investigational, Nutraceutical Phase 1, Phase 2,Phase 2 98-92-0 936
7 Angiogenesis Inhibitors Phase 1, Phase 2
8 Angiogenesis Modulating Agents Phase 1, Phase 2
9 Micronutrients Phase 1, Phase 2
10 Nicotinic Acids Phase 1, Phase 2
11 Protein Kinase Inhibitors Phase 1, Phase 2
12 Trace Elements Phase 1, Phase 2
13 Vitamin B Complex Phase 1, Phase 2
14 Vitamins Phase 1, Phase 2
15 Antibodies Phase 2
16 Antibodies, Monoclonal Phase 2
17 Immunoglobulins Phase 2
18 Pharmaceutical Solutions Phase 2
19 Folate Nutraceutical Phase 1, Phase 2
20 Vitamin B3 Nutraceutical Phase 1, Phase 2
21 Vitamin B9 Nutraceutical Phase 1, 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 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) Recruiting 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:

41
Kidney, Brain, Liver, T Cells, Breast, Myeloid, B Cells

Publications for Chromophobe Renal Cell Carcinoma

Articles related to Chromophobe Renal Cell Carcinoma:

(show top 50) (show all 273)
# Title Authors Year
1
Diagnostic Accuracy of Unenhanced CT Analysis to Differentiate Low-Grade From High-Grade Chromophobe Renal Cell Carcinoma. ( 29547054 )
2018
2
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
3
Leptin and its receptor: can they help to differentiate chromophobe renal cell carcinoma from renal oncocytoma? ( 29970253 )
2018
4
Biallelic <i>TSC2</i> Mutations in a Patient With Chromophobe Renal Cell Carcinoma Showing Extraordinary Response to Temsirolimus. ( 29632054 )
2018
5
Variation in nuclear size and PD-L2 positivity correlate with aggressive chromophobe renal cell carcinoma. ( 29661724 )
2018
6
Chromophobe Renal Cell Carcinoma With Retrograde Venous Invasion and Gain of Chromosome 21: Potential Harbingers of Aggressive Clinical Behavior. ( 29560759 )
2018
7
Identification and Validation of Radiographic Enhancement for Reliable Differentiation of CD117(+) Benign Renal Oncocytoma and Chromophobe Renal Cell Carcinoma. ( 29752278 )
2018
8
Cytogenetic and immunohistochemical study of 42 pigmented microcystic chromophobe renal cell carcinoma (PMChRCC). ( 29931469 )
2018
9
Impairment of gamma-glutamyl transferase 1 activity in the metabolic pathogenesis of chromophobe renal cell carcinoma. ( 29891694 )
2018
10
FDG PET/CT of Chromophobe Renal Cell Carcinoma With Sarcomatoid Differentiation. ( 29485439 )
2018
11
Localized chromophobe renal cell carcinoma: preoperative imaging judgment and laparoscopic simple enucleation for treatment. ( 29757571 )
2018
12
Significant response to nivolumab for metastatic chromophobe renal cell carcinoma with sarcomatoid differentiation: a case report. ( 29669553 )
2018
13
A family case with germline <i>TSC1</i> and mtDNA mutations developing bilateral eosinophilic chromophobe renal cell carcinomas without other typical phenotype of tuberous sclerosis. ( 29960980 )
2018
14
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
15
Rapid Response to Nivolumab in a Patient With Sarcomatoid Transformation of Chromophobe Renal Cell Carcinoma. ( 28673798 )
2017
16
Chromophobe renal cell carcinoma-like thyroid carcinoma: A novel clinicopathologic entity possibly associated with tuberous sclerosis complex. ( 28680002 )
2017
17
Erythrocytosis caused by giant chromophobe renal cell carcinoma: a case report indicating a 9-year misdiagnosis of polycythemia vera. ( 28877745 )
2017
18
c-Met in chromophobe renal cell carcinoma. ( 28035577 )
2017
19
Exploring Multiphoton Microscopy as a Novel Tool to Differentiate Chromophobe Renal Cell Carcinoma From Oncocytoma in Fixed Tissue Sections. ( 29219617 )
2017
20
HNF1B Loss Exacerbates the Development of Chromophobe Renal Cell Carcinomas. ( 28807937 )
2017
21
Synchronous urinary bladder metastasis of chromophobe renal cell carcinoma. ( 28679514 )
2017
22
PD-L2: A prognostic marker in chromophobe renal cell carcinoma? ( 28353093 )
2017
23
Genomic landscape and evolution of metastatic chromophobe renal cell carcinoma. ( 28614790 )
2017
24
Genomic and metabolic characterization of a chromophobe renal cell carcinoma cell line model (UOK276). ( 28736828 )
2017
25
Incidental Eosinophilic Chromophobe Renal Cell Carcinoma in Renal Allograft. ( 29130016 )
2017
26
Prognostic Value of Clinical and Pathological Features in Chinese Patients with Chromophobe Renal Cell Carcinoma: A 10-Year Single-Center Study. ( 29151931 )
2017
27
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
28
Chromophobe Renal Cell Carcinoma and the Synchronous Presence of Primary Colon Malignancies. Is There a Relation? ( 28607876 )
2017
29
Multicentric papillary and chromophobe renal cell carcinomas in a patient with autosomal dominant polycystic kidney disease: Report of a rare case. ( 28937383 )
2017
30
Metastatic chromophobe renal cell carcinoma treated with targeted therapies: A Renal Cross Channel GroupA study. ( 28549248 )
2017
31
Genetic alterations of HER genes in chromophobe renal cell carcinoma. ( 26998131 )
2016
32
Selected tumor markers in the routine diagnosis of chromophobe renal cell carcinoma. ( 27478468 )
2016
33
Metastatic chromophobe renal cell carcinoma to the brain. ( 26589090 )
2016
34
Tremendous non-progressed chromophobe renal cell carcinoma for eight years performed by laparoscope. ( 28096929 )
2016
35
PD-1/PD-L1 expression in chromophobe renal cell carcinoma: An immunological exception? ( 27696122 )
2016
36
A systematic review and meta-analysis of immunohistochemical biomarkers that differentiate chromophobe renal cell carcinoma from renal oncocytoma. ( 26951082 )
2016
37
Antitumor Response to Combined Antiangiogenic and Cytotoxic Chemotherapy in Recurrent Metastatic Chromophobe Renal Cell Carcinoma: Response Signatures and Proteomic Correlates. ( 26684814 )
2016
38
Biomarker and competing endogenous RNA potential of tumor-specific long noncoding RNA in chromophobe renal cell carcinoma. ( 27799788 )
2016
39
An atypical case of dermatomyositis associated with chromophobe renal cell carcinoma. ( 26786527 )
2016
40
Chromophobe renal cell carcinoma occurring in the renal allograft of a transplant recipient presenting with weight loss. ( 26787581 )
2016
41
Does chromophobe renal cell carcinoma have better survival than clear cell renal cell carcinoma? A clinical-based cohort study and meta-analysis. ( 26589610 )
2016
42
Dysfunctional miRNA-Mediated Regulation in Chromophobe Renal Cell Carcinoma. ( 27258182 )
2016
43
Morphological, immunohistochemical, and chromosomal analysis of multicystic chromophobe renal cell carcinoma, an architecturally unusual challenging variant. ( 27631338 )
2016
44
Rare Case of Hybrid Oncocytoma and Chromophobe Renal Cell Carcinoma in a Pediatric Patient. ( 26718018 )
2016
45
Outcome of Patients With Metastatic Chromophobe Renal Cell Carcinoma Treated With Sunitinib. ( 27382030 )
2016
46
Chromophobe renal cell carcinoma mimicking cortical invasion by synchronous invasive urothelial carcinoma of the intra-renal collecting system on CT urography. ( 27256197 )
2016
47
Sarcomatoid Transrormation of Chromophobe Renal Cell Carcinoma. ( 26870150 )
2016
48
Fluorescent and chromogenic in situ hybridization of CEN17q as a potent useful diagnostic marker for Birt-Hogg-DubAc syndrome-associated chromophobe renal cell carcinomas. ( 26980015 )
2016
49
HNF1I^ and S100A1 are useful biomarkers for distinguishing renal oncocytoma and chromophobe renal cell carcinoma in FNA and core needle biopsies. ( 25739652 )
2015
50
Robot-assisted heminephrectomy for chromophobe renal cell carcinoma in L-shaped fused crossed ectopia: Surgical challenge. ( 26495075 )
2015

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

Cosmic variations for Chromophobe Renal Cell Carcinoma:

9
(show top 50) (show all 2262)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 27
2 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 3:124737785-124737785 27
3 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 27
4 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 2:7020581-7020581 27
5 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 27
6 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 9:123020414-123020414 27
7 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 27
8 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 11:118497991-118497991 27
9 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 6:33682621-33682621 27
10 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 10:127023241-127023241 27
11 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 27
12 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 6:44419552-44419552 27
13 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 11:110586276-110586276 27
14 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma c.563G>C p.G188A 23:123886225-123886225 26
15 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma c.353T>C p.L118P 3:10146526-10146526 26
16 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma c.292T>G p.Y98D 3:10142139-10142139 26
17 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma c.245G>C p.R82P 3:10142092-10142092 26
18 COSM6957851 TSC2 kidney,NS,carcinoma,renal cell carcinoma c.541G>A p.V181M 16:2055461-2055461 26
19 COSM6942356 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.2287C>T p.Q763* 9:132902709-132902709 26
20 COSM6963117 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.1001C>A p.S334* 9:132911481-132911481 26
21 COSM29770 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.508+1G>T p.? 9:132923347-132923347 26
22 COSM10656 TP53 kidney,NS,carcinoma,renal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 26
23 COSM45243 TP53 kidney,NS,carcinoma,renal cell carcinoma c.374C>G p.T125R 17:7675995-7675995 26
24 COSM44310 TP53 kidney,NS,carcinoma,renal cell carcinoma c.738G>A p.M246I 17:7674225-7674225 26
25 COSM6922197 TP53 kidney,NS,carcinoma,renal cell carcinoma c.97-2A>C p.? 17:7676274-7676274 26
26 COSM45135 TP53 kidney,NS,carcinoma,renal cell carcinoma c.673-1G>T p.? 17:7674291-7674291 26
27 COSM6929752 TBX3 kidney,NS,carcinoma,renal cell carcinoma c.510G>T p.W170C 12:114681026-114681026 26
28 COSM6979493 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.2096+1G>A p.? 23:124065947-124065947 26
29 COSM6975582 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.1348A>T p.R450* 23:124057909-124057909 26
30 COSM6023628 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.2860C>T p.R954C 23:124081464-124081464 26
31 COSM6963119 SPOP kidney,NS,carcinoma,renal cell carcinoma c.265T>G p.L89V 17:49619321-49619321 26
32 COSM6964939 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.987-2A>T p.? 22:23833570-23833570 26
33 COSM989 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.1130G>A p.R377H 22:23834152-23834152 26
34 COSM1266238 SMARCA4 kidney,NS,carcinoma,renal cell carcinoma c.3575G>A p.R1192H 19:11033318-11033318 26
35 COSM6947611 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.863C>A p.S288* 3:47122264-47122264 26
36 COSM6975580 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.4736C>G p.S1579* 3:47062211-47062211 26
37 COSM4118007 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.3266G>A p.R1089Q 3:47106061-47106061 26
38 COSM4794860 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.5922+1G>A p.? 3:47019759-47019759 26
39 COSM6925125 RBM10 kidney,NS,carcinoma,renal cell carcinoma c.179C>A p.S60* 23:47169476-47169476 26
40 COSM6922201 RBM10 kidney,NS,carcinoma,renal cell carcinoma c.299G>C p.G100A 23:47171125-47171125 26
41 COSM6947629 PTCH1 kidney,NS,carcinoma,renal cell carcinoma c.3616C>T p.R1206C 9:95449257-95449257 26
42 COSM6927541 PRKN kidney,NS,carcinoma,renal cell carcinoma c.629T>G p.F210C 6:161973407-161973407 26
43 COSM6913448 POLE kidney,NS,carcinoma,renal cell carcinoma c.4735C>T p.R1579C 12:132642723-132642723 26
44 COSM6972882 PMS1 kidney,NS,carcinoma,renal cell carcinoma c.572T>A p.V191E 2:189818170-189818170 26
45 COSM6923488 PIM1 kidney,NS,carcinoma,renal cell carcinoma c.101T>A p.L34Q 6:37170791-37170791 26
46 COSM6969911 PIK3CG kidney,NS,carcinoma,renal cell carcinoma c.2039T>A p.F680Y 7:106872580-106872580 26
47 COSM763 PIK3CA kidney,NS,carcinoma,renal cell carcinoma c.1633G>A p.E545K 3:179218303-179218303 26
48 COSM6921803 PIK3C2G kidney,NS,carcinoma,renal cell carcinoma c.3493T>C p.F1165L 12:18562728-18562728 26
49 COSM6922195 PIK3C2G kidney,NS,carcinoma,renal cell carcinoma c.1986G>C p.Q662H 12:18391235-18391235 26
50 COSM6918100 PBRM1 kidney,NS,carcinoma,renal cell carcinoma c.1183A>C p.S395R 3:52634720-52634720 26

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 12.05 EPCAM KRT18 KRT7 KRT8
2
Show member pathways
11.71 KRT18 KRT7 KRT8 PRSS8
3
Show member pathways
11.55 CCND1 CDH16 HNF1A HNF1B
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 bicellular tight junction GO:0005923 9.33 CCND1 CLDN8 EPCAM
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 liver development GO:0001889 9.54 CCND1 HNF1A HNF1B
2 epithelial cell proliferation GO:0050673 9.32 HNF1B KIT
3 hepatocyte apoptotic process GO:0097284 9.26 KRT18 KRT8
4 cornification GO:0070268 9.26 KRT18 KRT7 KRT8 PRSS8
5 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.16 HNF1A HNF1B
6 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 cadherin binding involved in cell-cell adhesion GO:0098641 8.96 EPCAM KRT18
2 structural molecule activity GO:0005198 8.92 CLDN8 KRT18 KRT7 KRT8

Sources for Chromophobe Renal Cell Carcinoma

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74 UMLS via Orphanet
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