MCID: CHR177
MIFTS: 59

Chromophobe Renal Cell Carcinoma

Categories: Rare diseases, Cancer diseases, Nephrological diseases

Aliases & Classifications for Chromophobe Renal Cell Carcinoma

MalaCards integrated aliases for Chromophobe Renal Cell Carcinoma:

Name: Chromophobe Renal Cell Carcinoma 37 12 49 55 14 69
Renal Cell Carcinoma, Chromophobe Cell 12
Chromophobe Renal Cell Adenocarcinoma 55
Chromophobe Carcinoma of Kidney 12
Chromophobe Renal Carcinoma 72
Chromophobe Adenocarcinoma 12
Chromophobe Carcinoma 69
Kidney Chromophobe 12
Chrcc 49
Crcc 49

Classifications:

Orphanet: 55  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4471
MeSH 41 D002292
NCIt 46 C4146
SNOMED-CT 64 128667008
Orphanet 55 ORPHA319303
UMLS via Orphanet 70 C1266042
ICD10 via Orphanet 33 C64

Summaries for Chromophobe Renal Cell Carcinoma

NIH Rare Diseases : 49 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. Last updated: 7/1/2015

MalaCards based summary : Chromophobe Renal Cell Carcinoma, also known as renal cell carcinoma, chromophobe cell, is related to renal oncocytoma and 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 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, and related phenotypes are homeostasis/metabolism and growth/size/body region

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 : 72 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 96)
# Related Disease Score Top Affiliating Genes
1 renal oncocytoma 30.6 CDH16 CLDN8 EPCAM FLCN KIT KRT7
2 oncocytoma 30.3 CDH16 CLDN8 FLCN KIT KRT18 KRT7
3 renal cell carcinoma, nonpapillary 30.3 CDH16 CLDN7 CLDN8 EPCAM FLCN HNF1A
4 renal cell carcinoma, papillary, 1 30.2 CDH16 KIT KRT7 MME
5 eosinophilic variant of chromophobe renal cell carcinoma 12.4
6 classic variant of chromophobe renal cell carcinoma 12.2
7 birt-hogg-dube syndrome 11.5
8 renal cell carcinoma, xp11-associated 11.2
9 jejunal cancer 10.6 KIT KRT7
10 balloon cell malignant melanoma 10.5 KRT7 MME
11 krukenberg carcinoma 10.5 HNF1B KRT7
12 cervical adenoma malignum 10.5 KRT7 MME
13 cribriform carcinoma 10.5 KIT KRT7
14 malignant mixed mullerian tumor 10.5 KIT KRT7
15 cervical mucinous adenocarcinoma 10.5 KRT7 MME
16 polycystic liver disease 1 10.5 FLCN HNF1B KRT7
17 gallbladder sarcoma 10.5 KIT KRT18
18 malignant iris melanoma 10.4 CCND1 S100A1
19 endolymphatic sac tumor 10.4 KRT7 KRT8
20 benign breast phyllodes tumor 10.4 KIT MME
21 epithelioid trophoblastic tumor 10.4 KRT18 KRT7
22 adenoid basal cell carcinoma 10.4 KIT KRT7
23 malignant leydig cell tumor 10.4 KIT KRT7 MME
24 mixed cell type cancer 10.4 KIT KRT7 MME
25 intratubular embryonal carcinoma 10.4 KIT KRT7
26 organ system benign neoplasm 10.4 KIT KRT7 MME
27 hidrocystoma 10.4 KRT7 KRT8
28 warthin tumor 10.4 KIT KRT18 KRT7
29 prostate squamous cell carcinoma 10.4 KRT7 KRT8
30 neurenteric cyst 10.4 KRT18 KRT8
31 bile duct adenocarcinoma 10.3 EPCAM KRT7 S100A1
32 ovarian lymphoma 10.3 KRT18 MME
33 gastrointestinal system benign neoplasm 10.3 CCND1 KIT KRT7
34 ovarian cancer 1 10.3 EPCAM HNF1B KRT7
35 apocrine sweat gland neoplasm 10.3 KRT7 KRT8
36 polymorphous low-grade adenocarcinoma 10.3 CCND1 KIT S100A1
37 bladder lymphoma 10.3 KRT7 MME
38 merkel cell carcinoma 10.3 KIT KRT7 KRT8
39 cell type cancer 10.3 CCND1 KIT KRT7
40 sarcoma, synovial 10.3 KIT KRT7 KRT8
41 sweat gland cancer 10.3 KRT7 KRT8 MME
42 breast adenomyoepithelioma 10.2 KRT7 MME
43 nasal cavity cancer 10.2 KRT7 KRT8
44 proliferating trichilemmal cyst 10.2 KRT18 KRT7 KRT8
45 cutaneous adenocystic carcinoma 10.2 KRT18 KRT7 KRT8
46 endometrial stromal sarcoma 10.2 CCND1 KIT MME
47 lymphoepithelioma-like carcinoma 10.2 KRT18 KRT7 KRT8
48 mammary paget's disease 10.2 KRT18 KRT7 KRT8
49 clear cell renal cell carcinoma 10.2
50 primary cutaneous amyloidosis 10.2 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

MGI Mouse Phenotypes related to Chromophobe Renal Cell Carcinoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 CCND1 CD82 CLDN7 CLDN8 EPCAM ESRP1
2 growth/size/body region MP:0005378 10.1 CLDN8 EPCAM ESRP1 FLCN HNF1A HNF1B
3 cardiovascular system MP:0005385 10.06 CCND1 CD82 CLDN8 EPCAM FLCN KIT
4 embryo MP:0005380 9.97 EPCAM ESRP1 FLCN HNF1B KIT KRT18
5 integument MP:0010771 9.76 CCND1 CLDN7 ESRP1 HNF1A KIT MME
6 mortality/aging MP:0010768 9.73 KIT KRT18 KRT8 PRSS8 PVALB FLCN
7 renal/urinary system MP:0005367 9.23 CLDN7 CLDN8 ESRP1 FLCN HNF1A HNF1B

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 59-67-6 938
6
Nicotinamide Approved, Investigational, Nutraceutical Phase 1, 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:

38
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 258)
# Title Authors Year
1
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
2
Genomic and metabolic characterization of a chromophobe renal cell carcinoma cell line model (UOK276). ( 28736828 )
2017
3
Rapid Response to Nivolumab in a Patient With Sarcomatoid Transformation of Chromophobe Renal Cell Carcinoma. ( 28673798 )
2017
4
Chromophobe Renal Cell Carcinoma and the Synchronous Presence of Primary Colon Malignancies. Is There a Relation? ( 28607876 )
2017
5
c-Met in chromophobe renal cell carcinoma. ( 28035577 )
2017
6
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
7
Genomic landscape and evolution of metastatic chromophobe renal cell carcinoma. ( 28614790 )
2017
8
PD-L2: A prognostic marker in chromophobe renal cell carcinoma? ( 28353093 )
2017
9
Multicentric papillary and chromophobe renal cell carcinomas in a patient with autosomal dominant polycystic kidney disease: Report of a rare case. ( 28937383 )
2017
10
Prognostic Value of Clinical and Pathological Features in Chinese Patients with Chromophobe Renal Cell Carcinoma: A 10-Year Single-Center Study. ( 29151931 )
2017
11
Metastatic chromophobe renal cell carcinoma treated with targeted therapies: A Renal Cross Channel GroupA study. ( 28549248 )
2017
12
Erythrocytosis caused by giant chromophobe renal cell carcinoma: a case report indicating a 9-year misdiagnosis of polycythemia vera. ( 28877745 )
2017
13
Exploring Multiphoton Microscopy as a Novel Tool to Differentiate Chromophobe Renal Cell Carcinoma From Oncocytoma in Fixed Tissue Sections. ( 29219617 )
2017
14
Incidental Eosinophilic Chromophobe Renal Cell Carcinoma in Renal Allograft. ( 29130016 )
2017
15
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
16
HNF1B Loss Exacerbates the Development of Chromophobe Renal Cell Carcinomas. ( 28807937 )
2017
17
Chromophobe renal cell carcinoma-like thyroid carcinoma: A novel clinicopathologic entity possibly associated with tuberous sclerosis complex. ( 28680002 )
2017
18
Synchronous urinary bladder metastasis of chromophobe renal cell carcinoma. ( 28679514 )
2017
19
Biomarker and competing endogenous RNA potential of tumor-specific long noncoding RNA in chromophobe renal cell carcinoma. ( 27799788 )
2016
20
An atypical case of dermatomyositis associated with chromophobe renal cell carcinoma. ( 26786527 )
2016
21
Chromophobe renal cell carcinoma occurring in the renal allograft of a transplant recipient presenting with weight loss. ( 26787581 )
2016
22
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
23
A systematic review and meta-analysis of immunohistochemical biomarkers that differentiate chromophobe renal cell carcinoma from renal oncocytoma. ( 26951082 )
2016
24
Sarcomatoid Transrormation of Chromophobe Renal Cell Carcinoma. ( 26870150 )
2016
25
Does chromophobe renal cell carcinoma have better survival than clear cell renal cell carcinoma? A clinical-based cohort study and meta-analysis. ( 26589610 )
2016
26
Morphological, immunohistochemical, and chromosomal analysis of multicystic chromophobe renal cell carcinoma, an architecturally unusual challenging variant. ( 27631338 )
2016
27
Metastatic chromophobe renal cell carcinoma to the brain. ( 26589090 )
2016
28
Selected tumor markers in the routine diagnosis of chromophobe renal cell carcinoma. ( 27478468 )
2016
29
Tremendous non-progressed chromophobe renal cell carcinoma for eight years performed by laparoscope. ( 28096929 )
2016
30
Dysfunctional miRNA-Mediated Regulation in Chromophobe Renal Cell Carcinoma. ( 27258182 )
2016
31
Rare Case of Hybrid Oncocytoma and Chromophobe Renal Cell Carcinoma in a Pediatric Patient. ( 26718018 )
2016
32
Outcome of Patients With Metastatic Chromophobe Renal Cell Carcinoma Treated With Sunitinib. ( 27382030 )
2016
33
Genetic alterations of HER genes in chromophobe renal cell carcinoma. ( 26998131 )
2016
34
PD-1/PD-L1 expression in chromophobe renal cell carcinoma: An immunological exception? ( 27696122 )
2016
35
Antitumor Response to Combined Antiangiogenic and Cytotoxic Chemotherapy in Recurrent Metastatic Chromophobe Renal Cell Carcinoma: Response Signatures and Proteomic Correlates. ( 26684814 )
2016
36
Chromophobe renal cell carcinoma mimicking cortical invasion by synchronous invasive urothelial carcinoma of the intra-renal collecting system on CT urography. ( 27256197 )
2016
37
MicroRNA expression profiles predict clinical phenotypes and prognosis in chromophobe renal cell carcinoma. ( 25981392 )
2015
38
Robot-assisted heminephrectomy for chromophobe renal cell carcinoma in L-shaped fused crossed ectopia: Surgical challenge. ( 26495075 )
2015
39
Chromophobe renal cell carcinoma recurrence in the ureter: A late presentation of a rare metastasis. ( 26425244 )
2015
40
Eosinophilic variant of chromophobe renal cell carcinoma. ( 25552800 )
2015
41
Sarcomatoid chromophobe renal cell carcinoma: A rare entity with prognostic significance. ( 26881614 )
2015
42
Chromophobe renal cell carcinoma with neuroendocrine and neuroendocrine-like features. Morphologic, immunohistochemical, ultrastructural, and array comparative genomic hybridization analysis of 18 cases and review of the literature. ( 26031603 )
2015
43
Chromophobe Renal Cell Carcinoma is the Most Common Nonclear Renal Cell Carcinoma in Young Women: Results from the SEER Database. ( 26555952 )
2015
44
DOG1, cyclin D1, CK7, CD117 and vimentin are useful immunohistochemical markers in distinguishing chromophobe renal cell carcinoma from clear cell renal cell carcinoma and renal oncocytoma. ( 25596994 )
2015
45
Resection of bulky chromophobe renal cell carcinoma resolved severe idiopathic thrombocytopenic purpura: A case report. ( 26354444 )
2015
46
Comparative study of CT appearances in renal oncocytoma and chromophobe renal cell carcinoma. ( 25972369 )
2015
47
Genomics of chromophobe renal cell carcinoma: implications from a rare tumor for pan-cancer studies. ( 25859550 )
2015
48
Editorial Comment to Resection of bulky chromophobe renal cell carcinoma resolved severe idiopathic thrombocytopenic purpura: A case report. ( 26394806 )
2015
49
Chromophobe renal cell carcinoma with and without sarcomatoid change: a clinicopathological, comparative genomic hybridization, and whole-exome sequencing study. ( 26807193 )
2015
50
Chromophobe renal cell carcinoma of the kidney with neuroendocrine differentiation: A case report with review of literature. ( 26229333 )
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 HNF1B NM_000458.3(HNF1B): c.46delC (p.Leu16Cysfs) deletion Pathogenic rs587776771 GRCh37 Chromosome 17, 36104830: 36104830
2 FLCN FLCN, 2-BP DEL, 1284TC AND 2-BP INS, 1284AC indel Pathogenic

Cosmic variations for Chromophobe Renal Cell Carcinoma:

9 (show top 50) (show all 1121)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 27
2 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 27
3 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 27
4 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 27
5 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 27
6 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 27
7 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 27
8 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 27
9 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 27
10 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 27
11 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 27
12 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 27
13 COSM26615 TMEM74 kidney,NS,renal cell carcinoma,chromophobe c.289C>T p.R97W 25
14 COSM25714 PGM1 kidney,NS,renal cell carcinoma,chromophobe c.962C>T p.P321L 25
15 COSM26593 PC kidney,NS,renal cell carcinoma,chromophobe c.2525G>A p.R842Q 25
16 COSM26986 NCAPD2 kidney,NS,renal cell carcinoma,chromophobe c.2092C>T p.R698C 25
17 COSM28440 MYBL2 kidney,NS,renal cell carcinoma,chromophobe c.1249C>T p.R417C 25
18 COSM25667 MMP3 kidney,NS,renal cell carcinoma,chromophobe c.946C>T p.R316C 25
19 COSM26590 KALRN kidney,NS,renal cell carcinoma,chromophobe c.236G>A p.R79H 25
20 COSM28464 GDF11 kidney,NS,renal cell carcinoma,chromophobe c.935G>A p.R312H 25
21 COSM26995 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.122C>T p.T41M 25
22 COSM26613 BRINP3 kidney,NS,renal cell carcinoma,chromophobe c.346C>T p.R116C 25
23 COSM30472 ARHGEF11 kidney,NS,renal cell carcinoma,chromophobe c.583-1G>A p.? 25
24 COSM17806 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.333C>T p.S111S 20
25 COSM11071 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.1009C>T p.R337C 20
26 COSM10659 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.817C>T p.R273C 20
27 COSM11450 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.644G>T p.S215I 20
28 COSM45322 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.757A>G p.T253A 20
29 COSM43697 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.832C>A p.P278T 20
30 COSM30365 KMT2D kidney,NS,carcinoma,chromophobe renal cell carcinoma c.9236T>C p.M3079T 20
31 COSM30368 KMT2D kidney,NS,carcinoma,chromophobe renal cell carcinoma c.960C>T p.C320C 20
32 COSM20745 IGF1R kidney,NS,carcinoma,chromophobe renal cell carcinoma c.313G>C p.V105L 20
33 COSM249350 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2363A>C p.Q788P 17
34 COSM249389 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.121G>C p.E41Q 17
35 COSM249348 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 17
36 COSM249454 ZNF521 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3298A>G p.S1100G 17
37 COSM30510 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3559G>A p.V1187I 17
38 COSM249421 WWP2 kidney,NS,carcinoma,clear cell renal cell carcinoma c.2056G>C p.E686Q 17
39 COSM6201648 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1228+1G>C p.? 17
40 COSM1272065 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.332C>A p.P111H 17
41 COSM20759 WNK3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3809C>A p.T1270N 17
42 COSM30715 WISP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.868T>C p.C290R 17
43 COSM249519 VWA8 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3300A>T p.E1100D 17
44 COSM249385 VWA8 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1286A>G p.Q429R 17
45 COSM26611 VPS13B kidney,NS,carcinoma,clear cell renal cell carcinoma c.2580C>T p.Y860Y 17
46 COSM18132 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.463+2T>C p.? 17
47 COSM30221 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.326T>A p.I109N 17
48 COSM17721 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.241C>T p.P81S 17
49 COSM14400 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.194C>T p.S65L 17
50 COSM17789 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.525C>A p.Y175* 17

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 12.11 EPCAM KRT18 KRT7 KRT8
2
Show member pathways
11.91 KRT18 KRT7 KRT8 PRSS8
3 11.65 CCND1 CDH16 HNF1A HNF1B
4
Show member pathways
11.47 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 keratin filament GO:0045095 9.5 KRT18 KRT7 KRT8
2 bicellular tight junction GO:0005923 9.46 CCND1 CLDN7 CLDN8 EPCAM
3 apicolateral plasma membrane GO:0016327 9.13 CLDN7 CLDN8 KRT8
4 basolateral plasma membrane GO:0016323 9.02 CDH16 CLDN7 CLDN8 EPCAM PROM2
5 extracellular exosome GO:0070062 10 AMY1A CD82 CDH16 EPCAM KRT18 KRT7

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 protein complex binding GO:0032403 9.35 CCND1 EPCAM FLCN HNF1B KRT8
2 cadherin binding involved in cell-cell adhesion GO:0098641 9.26 EPCAM KRT18
3 structural molecule activity GO:0005198 9.02 CLDN7 CLDN8 KRT18 KRT7 KRT8
4 protein binding GO:0005515 10.09 AMY1A CCND1 CD82 CLDN7 CLDN8 EPCAM

Sources for Chromophobe Renal Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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