MCID: CHR177
MIFTS: 54

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 50 56 14 69
Renal Cell Carcinoma, Chromophobe Cell 12
Chromophobe Renal Cell Adenocarcinoma 56
Chromophobe Carcinoma of Kidney 12
Chromophobe Adenocarcinoma 12
Chromophobe Carcinoma 69
Kidney Chromophobe 12
Chrcc 50
Crcc 50

Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4471
MeSH 42 D002292
NCIt 47 C4146
SNOMED-CT 64 128667008
Orphanet 56 ORPHA319303
UMLS via Orphanet 70 C1266042
ICD10 via Orphanet 34 C64
UMLS 69 C1266042

Summaries for Chromophobe Renal Cell Carcinoma

NIH Rare Diseases : 50 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 cell carcinoma, papillary and eosinophilic variant of chromophobe renal cell carcinoma, 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.

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 73)
id Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, papillary 32.2 CDH16 KIT KRT7 MME
2 eosinophilic variant of chromophobe renal cell carcinoma 12.3
3 classic variant of chromophobe renal cell carcinoma 12.1
4 renal cell carcinoma 11.8
5 birt-hogg-dube syndrome 11.4
6 endometrial disease 10.8 KRT7 MME
7 pediatric cns choriocarcinoma 10.7 KRT7 MME
8 clear cell squamous cell skin carcinoma 10.7 KIT KRT7
9 superficial basal cell carcinoma 10.7 KIT KRT7
10 engraftment syndrome 10.7 KRT7 KRT8
11 fallopian tube mucinous adenocarcinoma 10.6 KRT7 MME
12 testis rhabdomyosarcoma 10.6 KIT KRT18
13 renal oncocytoma 10.6
14 malignant sertoli-leydig cell tumor 10.6 KIT KRT7 MME
15 pseudounicornuate uterus 10.6 KIT MME
16 vestibular gland benign neoplasm 10.6 KIT KRT7 MME
17 degenerative myopia 10.6 KRT7 MME
18 familial periodic paralysis 10.5 KRT7 KRT8
19 cervical spina bifida cystica 10.5 KRT18 KRT8
20 female breast axillary tail cancer 10.5 KRT7 MME
21 hypotrichosis 13 10.5 KRT18 KRT8
22 ovarian wilms' cancer 10.5 KRT18 MME
23 peritoneal serous adenocarcinoma 10.5 EPCAM KRT7 S100A1
24 kidney clear cell sarcoma 10.5 KIT KRT7 KRT8
25 lobular neoplasia 10.5 KRT7 MME
26 retinal disease 10.5 KIT KRT7 KRT8
27 gallbladder cancer 10.4 EPCAM KIT KRT7
28 spermatogenic failure 13 10.4 KIT KRT7 KRT8
29 sphenoid sinus squamous cell carcinoma 10.4 KIT MME
30 prostaglandin-endoperoxide synthase deficiency 10.4 KRT18 KRT7 KRT8
31 trachea adenoid cystic carcinoma 10.4 KRT18 KRT7 KRT8
32 extragonadal nonseminomatous germ cell tumor 10.4 KIT KRT18 KRT8
33 hypochromic microcytic anemia 10.3 KRT18 KRT7 KRT8
34 webster deming syndrome 10.3 KIT KRT18
35 liver angiosarcoma 10.3 KIT MME
36 perivascular epithelioid cell tumor 10.3 KIT KRT18 KRT7 MME
37 angelman syndrome due to a point mutation 10.3 HNF1A KRT7 MME
38 dysembryoplastic neuroepithelial tumor 10.3 KRT18 KRT7 KRT8
39 brown-vialetto-van laere syndrome 10.2 CD274 KIT KRT7
40 gallbladder papillomatosis 10.2 CDH16 FLCN KIT KRT7 MME
41 epicardium cancer 10.2 KRT18 KRT7 KRT8 S100A1
42 mucinous tubular and spindle renal cell carcinoma 10.1 HNF1A KRT7 MME
43 clear cell renal cell carcinoma 10.1
44 malignant biphasic mesothelioma 10.1 KRT18 KRT7 KRT8 MME
45 nodular tenosynovitis 10.1 KRT18 KRT7 KRT8 MME
46 extrinsic cardiomyopathy 10.1 CD274 KIT KRT8
47 cribriform carcinoma 10.0 CD274 KRT18 KRT8
48 cerebellar vermis medulloblastoma 10.0 KRT18 KRT7
49 acidophil adenoma 10.0 CDH16 FLCN KIT KRT8 MME
50 thyroiditis 9.9

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 CD274 CD82 CLDN7 CLDN8 EPCAM ESRP1
2 growth/size/body region MP:0005378 10.06 HNF1A HNF1B KIT KRT18 KRT8 PRSS8
3 embryo MP:0005380 9.97 EPCAM ESRP1 FLCN HNF1B KIT KRT18
4 mortality/aging MP:0010768 9.73 KIT KRT18 KRT8 PRSS8 PVALB CD274
5 integument MP:0010771 9.7 CD274 CLDN7 ESRP1 HNF1A KIT MME
6 renal/urinary system MP:0005367 9.23 CLDN8 ESRP1 FLCN HNF1A HNF1B KIT

Drugs & Therapeutics for Chromophobe Renal Cell Carcinoma

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

(show all 34)
id 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
Everolimus Approved Phase 2 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
6
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
7
nivolumab Approved Phase 2 946414-94-4
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
9
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
10
Nicotinamide Approved, Nutraceutical Phase 1, Phase 2 98-92-0 936
11
Lactitol Investigational Phase 2 585-86-4 3871
12 Angiogenesis Inhibitors Phase 1, Phase 2
13 Angiogenesis Modulating Agents Phase 1, Phase 2
14 Micronutrients Phase 1, Phase 2
15 Nicotinic Acids Phase 1, Phase 2
16 Protein Kinase Inhibitors Phase 1, Phase 2
17 Trace Elements Phase 1, Phase 2
18 Vitamin B Complex Phase 1, Phase 2
19 Vitamins Phase 1, Phase 2
20 Anti-Bacterial Agents Phase 2
21 Antibiotics, Antitubercular Phase 2
22 Antifungal Agents Phase 2
23 Anti-Infective Agents Phase 2
24 Immunosuppressive Agents Phase 2
25 Antimitotic Agents Phase 2
26 Epothilone B Phase 2
27 Epothilones Phase 2
28 Antibodies Phase 2
29 Antibodies, Monoclonal Phase 2
30 Immunoglobulins Phase 2
31 Pharmaceutical Solutions Phase 2
32 Folate Nutraceutical Phase 1, Phase 2
33 Vitamin B3 Nutraceutical Phase 1, Phase 2
34 Vitamin B9 Nutraceutical Phase 1, Phase 2

Interventional clinical trials:

(show all 11)

id 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 Study of Afinitor vs. Sutent in Patients With Metastatic Non-Clear Cell Renal Cell Carcinoma Completed NCT01108445 Phase 2 Everolimus;Sunitinib
3 pazopanib_NCRCC,Ph2 STUDY Completed NCT01538238 Phase 2 pazopanib
4 Sunitinib Malate in Patients With Non-Clear Cell Renal Cell Cancer Completed NCT00465179 Phase 2 Sunitinib Malate
5 EPO906 Therapy in Patients With Advanced Kidney Cancer Completed NCT00035243 Phase 2 epothilone b
6 Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer Recruiting NCT02504892 Phase 2 Everolimus
7 Pazopanib Hydrochloride in Treating Patients With Metastatic Kidney Cancer Recruiting NCT01767636 Phase 2 Pazopanib Hydrochloride
8 Everolimus Versus Sunitinib in Non-Clear Cell Renal Cell Carcinoma Active, not recruiting NCT01185366 Phase 2 Everolimus;Sunitinib
9 UNISoN: anzUp Nivo Then Ipi+Nivo in Sequential Non-clear Cell. Not yet recruiting NCT03177239 Phase 2 Nivolumab;Ipilimumab
10 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
11 Evaluation of Diagnostic Value of Molecular Markers in Renal Cancer Terminated NCT00491621

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:

39
Kidney, Brain, Liver, Breast, T Cells, B Cells, Myeloid

Publications for Chromophobe Renal Cell Carcinoma

Articles related to Chromophobe Renal Cell Carcinoma:

(show top 50) (show all 253)
id Title Authors Year
1
Genomic landscape and evolution of metastatic chromophobe renal cell carcinoma. ( 28614790 )
2017
2
Genomic and metabolic characterization of a chromophobe renal cell carcinoma cell line model (UOK276). ( 28736828 )
2017
3
Chromophobe Renal Cell Carcinoma and the Synchronous Presence of Primary Colon Malignancies. Is There a Relation? ( 28607876 )
2017
4
Chromophobe renal cell carcinoma-like thyroid carcinoma: A novel clinicopathologic entity possibly associated with tuberous sclerosis complex. ( 28680002 )
2017
5
c-Met in chromophobe renal cell carcinoma. ( 28035577 )
2017
6
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
7
Multicentric papillary and chromophobe renal cell carcinomas in a patient with autosomal dominant polycystic kidney disease: Report of a rare case. ( 28937383 )
2017
8
Rapid Response to Nivolumab in a Patient With Sarcomatoid Transformation of Chromophobe Renal Cell Carcinoma. ( 28673798 )
2017
9
Metastatic chromophobe renal cell carcinoma treated with targeted therapies: A Renal Cross Channel GroupA study. ( 28549248 )
2017
10
Erythrocytosis caused by giant chromophobe renal cell carcinoma: a case report indicating a 9-year misdiagnosis of polycythemia vera. ( 28877745 )
2017
11
PD-L2: A prognostic marker in chromophobe renal cell carcinoma? ( 28353093 )
2017
12
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
13
Synchronous urinary bladder metastasis of chromophobe renal cell carcinoma. ( 28679514 )
2017
14
Rare Case of Hybrid Oncocytoma and Chromophobe Renal Cell Carcinoma in a Pediatric Patient. ( 26718018 )
2016
15
Biomarker and competing endogenous RNA potential of tumor-specific long noncoding RNA in chromophobe renal cell carcinoma. ( 27799788 )
2016
16
Antitumor Response to Combined Antiangiogenic and Cytotoxic Chemotherapy in Recurrent Metastatic Chromophobe Renal Cell Carcinoma: Response Signatures and Proteomic Correlates. ( 26684814 )
2016
17
Chromophobe renal cell carcinoma occurring in the renal allograft of a transplant recipient presenting with weight loss. ( 26787581 )
2016
18
Tremendous non-progressed chromophobe renal cell carcinoma for eight years performed by laparoscope. ( 28096929 )
2016
19
Sarcomatoid Transrormation of Chromophobe Renal Cell Carcinoma. ( 26870150 )
2016
20
An atypical case of dermatomyositis associated with chromophobe renal cell carcinoma. ( 26786527 )
2016
21
Does chromophobe renal cell carcinoma have better survival than clear cell renal cell carcinoma? A clinical-based cohort study and meta-analysis. ( 26589610 )
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
Genetic alterations of HER genes in chromophobe renal cell carcinoma. ( 26998131 )
2016
24
Morphological, immunohistochemical, and chromosomal analysis of multicystic chromophobe renal cell carcinoma, an architecturally unusual challenging variant. ( 27631338 )
2016
25
Selected tumor markers in the routine diagnosis of chromophobe renal cell carcinoma. ( 27478468 )
2016
26
Outcome of Patients With Metastatic Chromophobe Renal Cell Carcinoma Treated With Sunitinib. ( 27382030 )
2016
27
Dysfunctional miRNA-Mediated Regulation in Chromophobe Renal Cell Carcinoma. ( 27258182 )
2016
28
Chromophobe renal cell carcinoma mimicking cortical invasion by synchronous invasive urothelial carcinoma of the intra-renal collecting system on CT urography. ( 27256197 )
2016
29
Metastatic chromophobe renal cell carcinoma to the brain. ( 26589090 )
2016
30
PD-1/PD-L1 expression in chromophobe renal cell carcinoma: An immunological exception? ( 27696122 )
2016
31
A systematic review and meta-analysis of immunohistochemical biomarkers that differentiate chromophobe renal cell carcinoma from renal oncocytoma. ( 26951082 )
2016
32
Editorial Comment to Resection of bulky chromophobe renal cell carcinoma resolved severe idiopathic thrombocytopenic purpura: A case report. ( 26394806 )
2015
33
Resection of bulky chromophobe renal cell carcinoma resolved severe idiopathic thrombocytopenic purpura: A case report. ( 26354444 )
2015
34
Comparative study of CT appearances in renal oncocytoma and chromophobe renal cell carcinoma. ( 25972369 )
2015
35
Chromophobe Renal Cell Carcinoma is the Most Common Nonclear Renal Cell Carcinoma in Young Women: Results from the SEER Database. ( 26555952 )
2015
36
MicroRNA expression profiles predict clinical phenotypes and prognosis in chromophobe renal cell carcinoma. ( 25981392 )
2015
37
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
38
Chromophobe renal cell carcinoma with and without sarcomatoid change: a clinicopathological, comparative genomic hybridization, and whole-exome sequencing study. ( 26807193 )
2015
39
Chromophobe renal cell carcinoma, oncocytic variant: Cytological and ultrastructural observations. ( 26729980 )
2015
40
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
41
Robot-assisted heminephrectomy for chromophobe renal cell carcinoma in L-shaped fused crossed ectopia: Surgical challenge. ( 26495075 )
2015
42
Chromophobe renal cell carcinoma of the kidney with neuroendocrine differentiation: A case report with review of literature. ( 26229333 )
2015
43
Genomics of chromophobe renal cell carcinoma: implications from a rare tumor for pan-cancer studies. ( 25859550 )
2015
44
Chromophobe renal cell carcinoma recurrence in the ureter: A late presentation of a rare metastasis. ( 26425244 )
2015
45
Sarcomatoid chromophobe renal cell carcinoma: A rare entity with prognostic significance. ( 26881614 )
2015
46
BSND and ATP6V1G3: Novel Immunohistochemical Markers for Chromophobe Renal Cell Carcinoma. ( 26091477 )
2015
47
Eosinophilic variant of chromophobe renal cell carcinoma. ( 25552800 )
2015
48
HNF1I^ and S100A1 are useful biomarkers for distinguishing renal oncocytoma and chromophobe renal cell carcinoma in FNA and core needle biopsies. ( 25739652 )
2015
49
Chromophobe renal cell carcinoma, eosinophilic variant with papillary growth: a case report. ( 26722580 )
2015
50
Clinical behavior of chromophobe renal cell carcinoma is less aggressive than that of clear cell renal cell carcinoma, independent of Fuhrman grade or tumor size. ( 25178561 )
2014

Variations for Chromophobe Renal Cell Carcinoma

ClinVar genetic disease variations for Chromophobe Renal Cell Carcinoma:

6
id 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

Cosmic variations for Chromophobe Renal Cell Carcinoma:

9 (show all 47)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 21
2 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 21
3 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 21
4 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 21
5 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 21
6 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 21
7 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 21
8 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 21
9 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 21
10 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 21
11 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 21
12 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 21
13 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 21
14 COSM26615 TMEM74 kidney,NS,renal cell carcinoma,chromophobe c.289C>T p.R97W 20
15 COSM25714 PGM1 kidney,NS,renal cell carcinoma,chromophobe c.962C>T p.P321L 20
16 COSM26593 PC kidney,NS,renal cell carcinoma,chromophobe c.2525G>A p.R842Q 20
17 COSM26986 NCAPD2 kidney,NS,renal cell carcinoma,chromophobe c.2092C>T p.R698C 20
18 COSM28440 MYBL2 kidney,NS,renal cell carcinoma,chromophobe c.1249C>T p.R417C 20
19 COSM25667 MMP3 kidney,NS,renal cell carcinoma,chromophobe c.946C>T p.R316C 20
20 COSM26590 KALRN kidney,NS,renal cell carcinoma,chromophobe c.236G>A p.R79H 20
21 COSM28464 GDF11 kidney,NS,renal cell carcinoma,chromophobe c.935G>A p.R312H 20
22 COSM26995 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.122C>T p.T41M 20
23 COSM26613 BRINP3 kidney,NS,renal cell carcinoma,chromophobe c.346C>T p.R116C 20
24 COSM30472 ARHGEF11 kidney,NS,renal cell carcinoma,chromophobe c.583-1G>A p.? 20
25 COSM17806 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.333C>T p.S111S 15
26 COSM18028 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.257C>T p.P86L 15
27 COSM11071 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.1009C>T p.R337C 15
28 COSM10659 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.817C>T p.R273C 15
29 COSM11450 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.644G>T p.S215I 15
30 COSM45322 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.757A>G p.T253A 15
31 COSM43697 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.832C>A p.P278T 15
32 COSM30365 KMT2D kidney,NS,carcinoma,chromophobe renal cell carcinoma c.9236T>C p.M3079T 15
33 COSM30368 KMT2D kidney,NS,carcinoma,chromophobe renal cell carcinoma c.960C>T p.C320C 15
34 COSM20745 IGF1R kidney,NS,carcinoma,chromophobe renal cell carcinoma c.313G>C p.V105L 15
35 COSM14389 VHL kidney,NS,renal cell carcinoma,chromophobe cell c.452T>G p.I151S 13
36 COSM26002 TAF2 kidney,NS,renal cell carcinoma,chromophobe cell c.851T>G p.L284R 13
37 COSM30526 NFYC kidney,NS,renal cell carcinoma,chromophobe cell c.519C>G p.I173M 13
38 COSM28454 KDM5C kidney,NS,renal cell carcinoma,chromophobe cell c.1933G>T p.E645* 13
39 COSM26014 CUL3 kidney,NS,renal cell carcinoma,chromophobe cell c.608A>T p.E203V 13
40 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 12
41 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 12
42 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 12
43 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 12
44 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 12
45 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 12
46 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 12
47 COSM52899 PBRM1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3805A>T p.K1269* 12

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)
id 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:

id Super pathways Score Top Affiliating Genes
1 12.04 EPCAM KRT18 KRT7 KRT8
2
Show member pathways
11.71 KRT18 KRT7 KRT8 PRSS8
3
Show member pathways
11.37 KRT18 KRT7 KRT8
4 10.68 EPCAM KIT MME

GO Terms for Chromophobe Renal Cell Carcinoma

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

id Name GO ID Score Top Affiliating Genes
1 bicellular tight junction GO:0005923 9.5 CLDN7 CLDN8 EPCAM
2 keratin filament GO:0045095 9.43 KRT18 KRT7 KRT8
3 extracellular exosome GO:0070062 9.4 AMY1A CD274 CD82 CDH16 EPCAM KRT18
4 basolateral plasma membrane GO:0016323 9.35 CDH16 CLDN7 CLDN8 EPCAM PROM2
5 apicolateral plasma membrane GO:0016327 9.33 CLDN7 CLDN8 KRT8

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

id Name GO ID Score Top Affiliating Genes
1 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.4 CLDN7 CLDN8
2 positive regulation of cell motility GO:2000147 9.37 CLDN7 EPCAM
3 epithelial cell proliferation GO:0050673 9.32 HNF1B KIT
4 hepatocyte apoptotic process GO:0097284 9.26 KRT18 KRT8
5 cornification GO:0070268 9.26 KRT18 KRT7 KRT8 PRSS8
6 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.16 HNF1A HNF1B
7 regulation of pronephros size GO:0035565 8.62 HNF1A HNF1B

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 AMY1A CD274 CD82 CLDN7 CLDN8 EPCAM
2 protein complex binding GO:0032403 9.46 EPCAM FLCN HNF1B KRT8
3 cadherin binding involved in cell-cell adhesion GO:0098641 9.26 EPCAM KRT18
4 structural molecule activity GO:0005198 9.02 CLDN7 CLDN8 KRT18 KRT7 KRT8

Sources for Chromophobe Renal Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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