CRCC
MCID: CHR177
MIFTS: 57

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 12 52 58 29 6 15 17 71
Renal Cell Carcinoma, Chromophobe Cell 12
Chromophobe Renal Cell Adenocarcinoma 58
Chromophobe Carcinoma of Kidney 12
Chromophobe Renal Carcinoma 74
Chromophobe Adenocarcinoma 12
Chromophobe Carcinoma 71
Kidney Chromophobe 12
Chrcc 52
Crcc 52

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4471
MeSH 43 D002292
NCIt 49 C4146
SNOMED-CT 67 733471003
ICD10 via Orphanet 33 C64
UMLS via Orphanet 72 C1266042
Orphanet 58 ORPHA319303
UMLS 71 C1266042 C3887514

Summaries for Chromophobe Renal Cell Carcinoma

NIH Rare Diseases : 52 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 eosinophilic variant of chromophobe 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). The drugs Sorafenib and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and breast, and related phenotype is renal/urinary system.

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 : 74 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 182)
# Related Disease Score Top Affiliating Genes
1 eosinophilic variant of chromophobe renal cell carcinoma 35.2 S100A1 CDH16
2 renal cell carcinoma, nonpapillary 33.6 VHL SETD2 S100A1 PBRM1 MME KRT7
3 oncocytoma 32.2 VHL S100A1 MME KRT7 KIT FLCN
4 renal oncocytoma 32.1 S100A1 MME KRT7 KIT FLCN CLDN8
5 clear cell renal cell carcinoma 31.9 VHL SETD2 PBRM1 MME KRT7 HNF1A
6 kidney cancer 31.8 VHL SETD2 PBRM1 FLCN
7 angiomyolipoma 31.5 S100A1 MME KRT7 KIT
8 renal cell carcinoma, papillary, 1 31.5 VHL SETD2 S100A1 PBRM1 MME KRT7
9 collecting duct carcinoma 31.4 VHL SETD2 PBRM1 MME KRT7 FLCN
10 classic variant of chromophobe renal cell carcinoma 12.5
11 birt-hogg-dube syndrome 11.8
12 renal cell carcinoma, xp11-associated 11.5
13 endolymphatic sac tumor 10.8 VHL KRT7
14 intrahepatic bile duct adenoma 10.8 KRT7 HNF1A
15 anus basaloid carcinoma 10.8 KRT7 KIT
16 nephrogenic adenoma 10.7 S100A1 KRT7
17 cervical adenoid cystic carcinoma 10.7 KRT7 KIT
18 urethra leiomyoma 10.7 MME KIT
19 nephrogenic adenoma of urinary bladder 10.7 MME KRT7
20 epithelial predominant wilms' tumor 10.7 KRT7 CDH16
21 ceruminous adenocarcinoma 10.7 KRT7 KIT
22 wolffian duct adenoma 10.7 MME KRT7
23 subareolar duct papillomatosis 10.7 MME KRT7
24 nipple benign neoplasm 10.7 MME KRT7
25 krukenberg carcinoma 10.7 KRT7 HNF1B
26 lung adenoid cystic carcinoma 10.7 KRT7 KIT
27 multilocular clear cell renal cell carcinoma 10.7 FLCN CDH16
28 mucocele of appendix 10.7 MME KIT
29 jejunal neoplasm 10.7 KRT7 KIT
30 pancreatic serous cystadenocarcinoma 10.7 MME KRT7
31 mixed epithelial stromal tumour 10.7 MME KRT7
32 intratubular embryonal carcinoma 10.7 KRT7 KIT
33 female urethral cancer 10.7 MME KRT7
34 epididymal neoplasm 10.7 MME KRT7
35 adenoid basal cell carcinoma 10.7 KRT7 KIT
36 polycystic liver disease 1 with or without kidney cysts 10.7 KRT7 HNF1B FLCN
37 adult cystic nephroma 10.7 MME KIT
38 leiomyomatosis 10.7 VHL KIT FLCN
39 uterus perivascular epithelioid cell tumor 10.7 MME KRT7
40 warthin tumor 10.7 KRT7 KIT
41 renal adenoma 10.7 MME KRT7 FLCN
42 chromophil adenoma of the kidney 10.7 PBRM1 MME KRT7
43 clear cell hidradenoma 10.7 MME KRT7
44 ovarian mixed germ cell neoplasm 10.7 MME KIT
45 wolffian duct adenocarcinoma 10.7 MME KRT7
46 pulmonary artery leiomyosarcoma 10.7 MME KRT7
47 liver leiomyosarcoma 10.7 KRT7 KIT
48 balloon cell malignant melanoma 10.7 MME KRT7
49 breast leiomyosarcoma 10.7 KRT7 KIT
50 nephrogenic adenoma of the urethra 10.7 MME 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

MGI Mouse Phenotypes related to Chromophobe Renal Cell Carcinoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.28 CLDN7 CLDN8 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 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorafenib Approved, Investigational Phase 1, Phase 2 284461-73-0 216239 406563
2
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
3
Ipilimumab Approved Phase 2 477202-00-9
4
nivolumab Approved Phase 2 946414-94-4
5
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
6 Angiogenesis Inhibitors Phase 1, Phase 2
7 Immunoglobulins Phase 2
8 Antibodies Phase 2
9 Antineoplastic Agents, Immunological Phase 2
10 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I/II Trial of BAY 43-9006 in Combination With Bevacizumab in Patients With Advanced Renal Cancer Completed NCT00126503 Phase 1, Phase 2 Sorafenib Tosylate
2 A Phase 2 Study of Cabozantinib in Combination With Nivolumab and Ipilimumab in Advanced Non-Clear Cell Renal Cell Carcinoma Not yet recruiting NCT04413123 Phase 2 Cabozantinib;Nivolumab;Ipilimumab
3 Toripalimab Combined With Axitinib as Neoadjuvant Therapy for Advanced/Metastatic Non-clear Cell Renal Cell Carcinoma Not yet recruiting NCT04385654 Phase 2 Toripalimab;Axitinib
4 A Phase 1 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
5 Study of the Impact of VEGF Polymorphism on the Development of Renal Carcinoma in Renal Transplant Patients Unknown status NCT03114826
6 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238
7 Aerobic Exercise and Cognitive Functioning in Women With Breast Cancer: the ACTIVATE Trial Recruiting NCT03277898
8 Role of Immunohistochemical Markers , Geminin and Mcm2 in Prognosis of Renal Cell Carcinoma, and Its Clinicopathological Correlation. A Prospective Controlled Study Not yet recruiting NCT03692533

Search NIH Clinical Center for Chromophobe Renal Cell Carcinoma

Genetic Tests for Chromophobe Renal Cell Carcinoma

Genetic tests related to Chromophobe Renal Cell Carcinoma:

# Genetic test Affiliating Genes
1 Chromophobe Renal Cell Carcinoma 29

Anatomical Context for Chromophobe Renal Cell Carcinoma

MalaCards organs/tissues related to Chromophobe Renal Cell Carcinoma:

40
Kidney, Brain, Breast, Liver, Smooth Muscle, Thyroid, Myeloid

Publications for Chromophobe Renal Cell Carcinoma

Articles related to Chromophobe Renal Cell Carcinoma:

(show top 50) (show all 592)
# Title Authors PMID Year
1
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 61 6
15649945 2005
2
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. 6
19562744 2009
3
Clinical and genetic studies of Birt-Hogg-Dubé syndrome. 6
12471204 2002
4
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. 6
9754819 1998
5
Imaging Mass Spectrometry Is an Accurate Tool in Differentiating Clear Cell Renal Cell Carcinoma and Chromophobe Renal Cell Carcinoma: A Proof-of-concept Study. 61
32466698 2020
6
Furin-cleaved ELA/Apela precursor displays tumor suppressor function in renal cell carcinoma through mTORC1 activation. 61
32516140 2020
7
Osteopontin is differentially expressed in renal cell tumors. 61
31914887 2020
8
Parvalbumin immunohistochemical expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney. 61
32524185 2020
9
Two Malignancies With Differential Responses to Immune Checkpoint Inhibitors: A Case Report. 61
32366429 2020
10
A non-diploid DNA status is linked to poor prognosis in renal cell cancer. 61
32361874 2020
11
The Utility of ERBB4 and RB1 Immunohistochemistry in Distinguishing Chromophobe Renal Cell Carcinoma From Renal Oncocytoma. 61
31640438 2020
12
Differentiation of renal cell carcinoma subtypes through MRI-based radiomics analysis. 61
32367419 2020
13
Chromophobe renal cell carcinoma: New genetic and metabolic insights. 61
32444178 2020
14
Systemic therapy for chromophobe renal cell carcinoma: A systematic review. 61
31953002 2020
15
Novel Biomarkers in Chromophobe Renal Cell Carcinoma: Distinguishing it from its Mimics. 61
32327265 2020
16
Next-generation RNA Sequencing-based Biomarker Characterization of Chromophobe Renal Cell Carcinoma and Related Oncocytic Neoplasms. 61
32299640 2020
17
A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic. 61
31778855 2020
18
The Role of Heat Shock Protein-90 in the Pathogenesis of Birt-Hogg-Dubé and Tuberous Sclerosis Complex Syndromes. 61
32327294 2020
19
Automated differentiation of benign renal oncocytoma and chromophobe renal cell carcinoma on computed tomography using deep learning. 61
31901213 2020
20
Multi-institutional re-evaluation of prognostic factors in chromophobe renal cell carcinoma: proposal of a novel two-tiered grading scheme. 61
31760491 2020
21
Chromophobe Renal Cell Carcinoma Aggressiveness and Immuno-oncology Therapy: How to Distinguish the Good One from the Bad One. 61
32199916 2020
22
Re: Multi-institutional Re-evaluation of Prognostic Factors in Chromophobe Renal Cell Carcinoma: Proposal of a Novel Two-tiered Grading Scheme. 61
32143925 2020
23
Correction to: Multi-institutional re-evaluation of prognostic factors in chromophobe renal cell carcinoma: proposal of a novel two-tiered grading scheme. 61
32157467 2020
24
Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature. 61
32171268 2020
25
Diagnostic accuracy of 99mTc-sestamibi SPECT/CT for detecting renal oncocytomas and other benign renal lesions: a systematic review and meta-analysis. 61
32193593 2020
26
Re: Clinicopathological and Survival Analysis of Clinically Advanced Papillary and Chromophobe Renal Cell Carcinoma. 61
31821083 2020
27
Differential diagnosis of chromophobe renal cell carcinoma and papillary renal cell carcinoma with dual-energy spectral computed tomography. 61
32088966 2020
28
Ultrasound features of chromophobe renal cell carcinoma metastasized to ovary. 61
31063651 2020
29
[Characterization of different renal cell carcinoma entities]. 61
31974661 2020
30
Robot-assisted partial nephrectomy with a standard laparoscopic ultrasound probe in treating endophytic renal tumor. 61
31350090 2020
31
Expanding the morphologic spectrum of chromophobe renal cell carcinoma: A study of 8 cases with papillary architecture. 61
31918172 2020
32
Loss of CDKN1A mRNA and Protein Expression Are Independent Predictors of Poor Outcome in Chromophobe Renal Cell Carcinoma Patients. 61
32079343 2020
33
Identification of Key Genes and Prognostic Analysis between Chromophobe Renal Cell Carcinoma and Renal Oncocytoma by Bioinformatic Analysis. 61
31998788 2020
34
De novo chromophobe renal cell carcinoma in the graft three decades after renal transplantation in a patient with a history of three renal transplants. 61
32129224 2020
35
Untargeted Contrast-Enhanced Ultrasound Versus Contrast-Enhanced Computed Tomography: A Differential Diagnostic Performance (DDP) Study for Kidney Lesions. 61
32130354 2020
36
Genome-wide Analysis of the Alternative Splicing Profiles Revealed Novel Prognostic Index for Kidney Renal Cell Clear Cell Carcinoma. 61
32047561 2020
37
Ultrasonic-assisted extraction and digestion of proteins from solid biopsies followed by peptide sequential extraction hyphenated to MALDI-based profiling holds the promise of distinguishing renal oncocytoma from chromophobe renal cell carcinoma. 61
31514886 2020
38
[The morphological characteristics and immunophenotype of renal cell carcinomas with eosinophilic cytoplasm]. 61
32307435 2020
39
Local and distant recurrence of the chromophobe renal cell carcinoma. 61
31950927 2020
40
Sarcomatoid Chromophobe Renal Cell Carcinoma with Heterologous Component. 61
32095153 2020
41
Identification and Analysis of Novel Biomarkers Involved in Chromophobe Renal Cell Carcinoma by Integrated Bioinformatics Analyses. 61
32090070 2020
42
Sarcomatoid chromophobe renal cell carcinoma revealed by acute pyelonephritis in a diabetic patient. 61
31681535 2020
43
[Chromophobe renal cell carcinoma-diagnosis and prognosis]. 61
31712889 2019
44
Eosinophilic Kidney Tumors: Old and New. 61
31403331 2019
45
Classification of solid renal tumor with oncocytic/eosinophilic cytoplasm: is hybrid oncocytic/chromophobe renal tumor a subtype of oncocytoma, chromophobe renal cell carcinoma, or a distinct tumor entity? 61
32016068 2019
46
Comparing oncologic outcomes in patients undergoing surgery for oncocytic neoplasms, conventional oncocytoma, and chromophobe renal cell carcinoma. 61
31451335 2019
47
Hybrid oncocytic/chromophobe renal tumors are molecularly distinct from oncocytoma and chromophobe renal cell carcinoma. 61
31231128 2019
48
Clinicopathological and survival analysis of clinically advanced papillary and chromophobe renal cell carcinoma. 61
31174958 2019
49
Caspase 3 as a Novel Marker to Distinguish Chromophobe Renal Cell Carcinoma from Oncocytoma. 61
30467700 2019
50
Chromophobe Renal Cell Carcinoma: Results From a Large Single-Institution Series. 61
31326335 2019

Variations for Chromophobe Renal Cell Carcinoma

ClinVar genetic disease variations for Chromophobe Renal Cell Carcinoma:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLCN FLCN, 2-BP DEL, 1284TC AND 2-BP INS, 1284ACindel Pathogenic 3368
2 HNF1B NM_000458.4(HNF1B):c.46del (p.Leu16fs)deletion Pathogenic 12648 rs587776771 17:36104830-36104830 17:37744839-37744839
3 HNF1A NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp)SNV Conflicting interpretations of pathogenicity 14948 rs137853247 12:121416663-121416663 12:120978860-120978860

Cosmic variations for Chromophobe Renal Cell Carcinoma:

9 (show top 50) (show all 6795)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88579140 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2363A>C p.Q788P 2:184937759-184937759 12
2 COSM88566796 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.121G>C p.E41Q 2:184866378-184866378 12
3 COSM100952565 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 12
4 COSM94790253 ZNF521 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3298A>G p.S1100G 18:25224620-25224620 12
5 COSM137390699 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3559G>A p.V1187I 16:49626188-49626188 12
6 COSM149301355 ZFHX3 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.4509G>T p.Q1503H 16:72798173-72798173 12
7 COSM149268221 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.745G>A p.G249S 16:72959401-72959401 12
8 COSM149266502 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.7052G>A p.C2351Y 16:72795630-72795630 12
9 COSM152022098 YES1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1069T>A p.L357I 18:739803-739803 12
10 COSM143036610 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.374C>G p.A125G 11:102114196-102114196 12
11 COSM94289984 XIAP kidney,NS,carcinoma,clear cell renal cell carcinoma c.1001A>T p.K334M 23:123891261-123891261 12
12 COSM94289415 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 12
13 COSM96278984 WWP2 kidney,NS,carcinoma,clear cell renal cell carcinoma c.2056G>C p.E686Q 16:69936391-69936391 12
14 COSM91370315 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1432+1G>C p.? 11:32391971-32391971 12
15 COSM91379363 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.536C>A p.P179H 11:32434810-32434810 12
16 COSM89581411 WNK3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3809C>A p.T1270N 23:54238942-54238942 12
17 COSM101322652 VWA8 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1286A>G p.Q429R 13:41865963-41865963 12
18 COSM101325565 VWA8 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3300A>T p.E1100D 13:41701456-41701456 12
19 COSM96870566 VTCN1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.98-1G>T p.? 1:117156922-117156922 12
20 COSM94748869 VPS13B kidney,NS,carcinoma,clear cell renal cell carcinoma c.2580C>T p.Y860= 8:99274262-99274262 12
21 COSM88289499 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.388G>T p.V130F 3:10146561-10146561 12
22 COSM88290593 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.464-1G>A p.? 3:10149786-10149786 12
23 COSM88305492 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.291C>A p.P97= 3:10142138-10142138 12
24 COSM88291276 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.343C>T p.H115Y 3:10146516-10146516 12
25 COSM88303076 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.293A>T p.Y98F 3:10142140-10142140 12
26 COSM88289037 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.254T>C p.L85P 3:10142101-10142101 12
27 COSM88289748 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.525C>G p.Y175* 3:10149848-10149848 12
28 COSM88292344 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.286C>T p.Q96* 3:10142133-10142133 12
29 COSM88292485 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.241C>T p.P81S 3:10142088-10142088 12
30 COSM88307936 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.244C>T p.R82C 3:10142091-10142091 12
31 COSM88289384 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.263G>T p.W88L 3:10142110-10142110 12
32 COSM88290429 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.350G>T p.W117L 3:10146523-10146523 12
33 COSM88294468 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.473T>G p.L158R 3:10149796-10149796 12
34 COSM88292596 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.490C>T p.Q164* 3:10149813-10149813 12
35 COSM88292160 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.551T>C p.L184P 3:10149874-10149874 12
36 COSM88290922 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.345C>G p.H115Q 3:10146518-10146518 12
37 COSM88289274 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.194C>A p.S65* 3:10142041-10142041 12
38 COSM88292304 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.269A>T p.N90I 3:10142116-10142116 12
39 COSM88288882 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.203C>A p.S68* 3:10142050-10142050 12
40 COSM88305342 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.492G>T p.Q164H 3:10149815-10149815 12
41 COSM88290983 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.506T>C p.L169P 3:10149829-10149829 12
42 COSM88289268 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.194C>T p.S65L 3:10142041-10142041 12
43 COSM88292994 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.533T>C p.L178P 3:10149856-10149856 12
44 COSM88297200 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.340G>C p.G114R 3:10142187-10142187 12
45 COSM88300743 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.278G>A p.G93D 3:10142125-10142125 12
46 COSM88292961 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.331A>C p.S111R 3:10142178-10142178 12
47 COSM88297366 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.565G>A p.E189K 3:10149888-10149888 12
48 COSM88289588 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.233A>T p.N78I 3:10142080-10142080 12
49 COSM88293594 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.341-1G>C p.? 3:10146513-10146513 12
50 COSM88289109 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.350G>A p.W117* 3:10146523-10146523 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)
# 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

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 apicolateral plasma membrane GO:0016327 8.62 CLDN8 CLDN7

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

# Name GO ID Score Top Affiliating Genes
1 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.26 CLDN8 CLDN7
2 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.16 HNF1B HNF1A
3 epithelial cell proliferation GO:0050673 8.96 KIT HNF1B
4 regulation of pronephros size GO:0035565 8.62 HNF1B HNF1A

Sources for Chromophobe Renal Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
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45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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