CRCC
MCID: CHR177
MIFTS: 54

Chromophobe Renal Cell Carcinoma (CRCC)

Categories: Cancer diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Chromophobe Renal Cell Carcinoma

MalaCards integrated aliases for Chromophobe Renal Cell Carcinoma:

Name: Chromophobe Renal Cell Carcinoma 12 20 58 29 6 15 17 70
Renal Cell Carcinoma, Chromophobe Cell 12
Chromophobe Renal Cell Adenocarcinoma 58
Chromophobe Carcinoma of Kidney 12
Chromophobe Renal Carcinoma 73
Chromophobe Adenocarcinoma 12
Chromophobe Carcinoma 70
Kidney Chromophobe 12
Chrcc 20
Crcc 20

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4471
MeSH 44 D002292
NCIt 50 C4146
SNOMED-CT 67 128667008
ICD10 via Orphanet 33 C64
UMLS via Orphanet 71 C1266042
Orphanet 58 ORPHA319303
UMLS 70 C1266042 C3887514

Summaries for Chromophobe Renal Cell Carcinoma

GARD : 20 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 HNF1A (HNF1 Homeobox A). The drugs Sorafenib and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include kidney, breast and myeloid, 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 : 73 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 188)
# Related Disease Score Top Affiliating Genes
1 eosinophilic variant of chromophobe renal cell carcinoma 33.1 S100A1 KRT7 CDH16
2 renal cell carcinoma, nonpapillary 32.8 SETD2 S100A1 PVALB PBRM1 MME KRT7
3 oncocytoma 32.1 S100A1 PVALB MME KRT7 KIT FLCN
4 renal oncocytoma 31.9 S100A1 PVALB MME KRT7 KIT FLCN
5 clear cell renal cell carcinoma 31.7 SETD2 PBRM1 MME KRT7 HNF1A FLCN
6 renal cell carcinoma, papillary, 1 31.4 SETD2 PBRM1 MME KRT7 KIT FLCN
7 angiomyolipoma 31.3 S100A1 MME KRT7 KIT FLCN
8 collecting duct carcinoma 31.1 SETD2 PVALB PBRM1 MME KRT7 FLCN
9 thyroid gland follicular carcinoma 30.7 MME KRT7 KIT
10 classic variant of chromophobe renal cell carcinoma 11.3
11 birt-hogg-dube syndrome 11.3
12 renal cell carcinoma, xp11-associated 11.3
13 kidney cancer 10.7
14 chromophil renal cell carcinoma 10.6
15 cervical adenoid cystic carcinoma 10.6 KRT7 KIT
16 ceruminous adenocarcinoma 10.6 KRT7 KIT
17 krukenberg carcinoma 10.6 KRT7 HNF1B
18 breast leiomyosarcoma 10.6 KRT7 KIT
19 posttransplant acute limbic encephalitis 10.6
20 nephrogenic adenoma 10.6 S100A1 KRT7
21 epithelial predominant wilms' tumor 10.6 KRT7 CDH16
22 lung adenoid cystic carcinoma 10.6 KRT7 KIT
23 adenoid basal cell carcinoma 10.6 KRT7 KIT
24 jejunal neoplasm 10.6 KRT7 KIT
25 intratubular embryonal carcinoma 10.6 KRT7 KIT
26 multilocular clear cell renal cell carcinoma 10.6 FLCN CDH16
27 polycystic liver disease 1 with or without kidney cysts 10.6 KRT7 HNF1B FLCN
28 trachea carcinoma 10.5 KRT7 KIT
29 parachordoma 10.5 S100A1 KRT7
30 mucinous stomach adenocarcinoma 10.5 KRT7 KIT
31 sarcomatous intrahepatic cholangiocarcinoma 10.5 KRT7 KIT
32 urethra leiomyoma 10.5 MME KIT
33 subareolar duct papillomatosis 10.5 MME KRT7
34 nephrogenic adenoma of urinary bladder 10.5 MME KRT7
35 cavernous hemangioma 10.5 S100A1 KRT7 KIT
36 cervical mucinous adenocarcinoma 10.5 MME KRT7
37 nipple benign neoplasm 10.5 MME KRT7
38 wolffian duct adenoma 10.5 MME KRT7
39 pancreatic serous cystadenocarcinoma 10.5 MME KRT7
40 mucocele of appendix 10.5 MME KIT
41 female urethral cancer 10.5 MME KRT7
42 thymus clear cell carcinoma 10.5 KRT7 KIT
43 mixed epithelial stromal tumour 10.5 MME KRT7
44 epididymal neoplasm 10.5 MME KRT7
45 liver leiomyosarcoma 10.5 KRT7 KIT
46 adult cystic nephroma 10.5 MME KIT
47 lung leiomyosarcoma 10.5 KRT7 KIT
48 bladder leiomyoma 10.5 KRT7 KIT
49 wolffian duct adenocarcinoma 10.5 MME KRT7
50 breast metaplastic carcinoma 10.5 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:

46
# 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):


# 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 Angiogenesis Inhibitors Phase 1, Phase 2
4 Antineoplastic Agents, Immunological Phase 1, Phase 2
5 Protein Kinase Inhibitors Phase 1, 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

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, Breast, Myeloid, Colon, Thyroid, Prostate, Bone Marrow

Publications for Chromophobe Renal Cell Carcinoma

Articles related to Chromophobe Renal Cell Carcinoma:

(show top 50) (show all 647)
# Title Authors PMID Year
1
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 6 61
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
Oncocytic variant, a novel subtype of chromophobe renal cell carcinoma: a report of two cases and a literature review. 61
33782641 2021
6
FOXI1 expression in chromophobe renal cell carcinoma and renal oncocytoma: a study of The Cancer Genome Atlas transcriptome-based outlier mining and immunohistochemistry. 61
32812119 2021
7
Parvalbumin immunohistochemical expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney. 61
32524185 2021
8
A non-diploid DNA status is linked to poor prognosis in renal cell cancer. 61
32361874 2021
9
Deep learning with a convolutional neural network model to differentiate renal parenchymal tumors: a preliminary study. 61
33656574 2021
10
HNF-1╬▓ as an immunohistochemical marker for distinguishing chromophobe renal cell carcinoma and hybrid oncocytic tumors from renal oncocytoma. 61
32816058 2021
11
Nomograms-based prediction of overall and cancer-specific survivals for patients with chromophobe renal cell carcinoma. 61
33302735 2021
12
Broad spectrum mutational analysis of chromophobe renal cell carcinoma using next-generation sequencing. 61
33556910 2021
13
Cathepsin K (Clone EPR19992) Demonstrates Uniformly Positive Immunoreactivity in Renal Oncocytoma, Chromophobe Renal Cell Carcinoma, and Distal Tubules. 61
33764165 2021
14
Comprehensive review of chromophobe renal cell carcinoma. 61
33753250 2021
15
Development of a Histopathology Informatics Pipeline for Classification and Prediction of Clinical Outcomes in Subtypes of Renal Cell Carcinoma. 61
33722896 2021
16
The Role of CK7, S100A1, and CD82 (KAI1) Expression in the Differential Diagnosis of Chromophobe Renal Cell Carcinoma and Renal Oncocytoma. 61
33605572 2021
17
Grading Chromophobe Renal Cell Carcinoma: Evidence for a Four-tiered Classification Incorporating Coagulative Tumor Necrosis. 61
33172723 2021
18
Grading of Chromophobe Renal Cell Carcinoma: Do We Need It? 61
33208256 2021
19
68Ga-Fibroblast Activation Protein Inhibitor, a Promising Radiopharmaceutical in PET/CT to Detect the Primary and Metastatic Lesions of Chromophobe Renal Cell Carcinoma. 61
33315682 2021
20
Re: Svetlana Avulova, John C. Cheville, Christine M. Lohse, et al. Grading of Chromophobe Renal Cell Carcinoma: Evidence for a Four-tiered Classification Incorporating Coagulative Tumor Necrosis. Eur Urol. In press. https://doi.org/10.1016/j.eururo.2020.10.007: Should Chromophobe Renal Cell Carcinoma Be Graded? 61
33612375 2021
21
Reply to Brett Delahunt, Hemamali Samaratunga, Lars Egevad's Letter to the Editor re: Svetlana Avulova, John C. Cheville, Christine M. Lohse, et al. Grading of Chromophobe Renal Cell Carcinoma: Evidence for a Four-tiered Classification Incorporating Coagulative Tumor Necrosis. Eur Urol 2021;79:225-31. Should Chromophobe Renal Cell Carcinoma Be Graded? 61
33637366 2021
22
Evaluation of Human Kidney Injury Molecule 1 (hKIM-1) Expression in Tumors From Various Organs by Messenger RNA In Situ Hybridization. 61
33608720 2021
23
[Clinicopathological features of hybrid oncocytic/chromophobe renal cell tumor]. 61
33535302 2021
24
Distinguishing Benign Renal Tumors with an Oncocytic Gene Expression (ONEX) Classifier. 61
32972793 2021
25
False-positive 123I-metaiodobenzylguanidine scan in a patient with renal cell carcinoma: A case of chromophobe renal cell carcinoma oncocytic variant with a complicated clinical course. 61
33426495 2021
26
Editorial Comment to False-positive 123I-metaiodobenzylguanidine scan in a patient with renal cell carcinoma: A case of chromophobe renal cell carcinoma oncocytic variant with a complicated clinical course. 61
33426496 2021
27
Differential diagnosis of renal oncocytoma and chromophobe renal cell carcinoma using CT features: a central scar-matched retrospective study. 61
33497276 2021
28
Evaluation of Clear Cell, Papillary, and Chromophobe Renal Cell Carcinoma Metastasis Sites and Association With Survival. 61
33475752 2021
29
Comprehensive Review of Numerical Chromosomal Aberrations in Chromophobe Renal Cell Carcinoma Including Its Variant Morphologies. 61
33021507 2021
30
A Case of Low-Grade Oncocytic Tumor/Chromophobe Renal Cell Carcinoma (Oncocytic Variant) of the Kidney. 61
33680526 2021
31
Chromophobe renal cell carcinoma: current and controversial issues. 61
33183792 2021
32
Identification of unique long non-coding RNAs as putative biomarkers for chromophobe renal cell carcinoma. 61
33052074 2021
33
A pan-kidney cancer study identifies subtype specific perturbations on pathways with potential drivers in renal cell carcinoma. 61
33371886 2020
34
The Role of Genetic Analysis in Correct Diagnosis of Eosinophilic Variant of Chromophobe Renal Cell Carcinoma. 61
33288578 2020
35
Re: Next-Generation RNA Sequencing-Based Biomarker Characterization of Chromophobe Renal Cell Carcinoma and Related Oncocytic Neoplasms. 61
32955978 2020
36
[Clinicopathological features and differential diagnosis of eosionphilic chromophobe renal cell carcinoma]. 61
33287507 2020
37
Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome. 61
32616874 2020
38
Endocytosis-Mediated Replenishment of Amino Acids Favors Cancer Cell Proliferation and Survival in Chromophobe Renal Cell Carcinoma. 61
33115803 2020
39
Cytomorphology, immunoprofile, and management of renal oncocytic neoplasms. 61
32697415 2020
40
Birt-Hogg-Dubé Syndrome Incidentally Identified in a Potential Liver Donor. 61
33334292 2020
41
Histo-molecular differentiation of renal cancer subtypes by mass spectrometry imaging and rapid proteome profiling of formalin-fixed paraffin-embedded tumor tissue sections. 61
33216824 2020
42
Differential diagnosis of chromophobe renal cell carcinoma and papillary renal cell carcinoma with dual-energy spectral computed tomography. 61
32088966 2020
43
Differentiation of renal cell carcinoma subtypes through MRI-based radiomics analysis. 61
32367419 2020
44
Sporadic oncocytic tumors with features intermediate between oncocytoma and chromophobe renal cell carcinoma: comprehensive clinicopathological and genomic profiling. 61
32673684 2020
45
Value of radiomics in differential diagnosis of chromophobe renal cell carcinoma and renal oncocytoma. 61
31664486 2020
46
Decreased Mitochondrial DNA Content Drives OXPHOS Dysregulation in Chromophobe Renal Cell Carcinoma. 61
32694149 2020
47
Use of Contrast Ultrasound for Renal Mass Evaluation. 61
32792125 2020
48
Histological differential diagnostics of renal oncocytoma. 61
32996740 2020
49
Image Interpretation: Practical Triage of Benign from Malignant Renal Masses. 61
32792120 2020
50
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

Variations for Chromophobe Renal Cell Carcinoma

ClinVar genetic disease variations for Chromophobe Renal Cell Carcinoma:

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

Cosmic variations for Chromophobe Renal Cell Carcinoma:

9 (show top 50) (show all 1317)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87285263 ZFHX3 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.4509G>T p.Q1503H 16:72798173-72798173 12
2 COSM149301355 ZFHX3 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.4509G>T p.Q1503H 16:72798173-72798173 12
3 COSM102035738 ZFHX3 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.1767G>T p.Q589H 16:72798173-72798173 12
4 COSM108082894 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 12
5 COSM92179769 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 12
6 COSM94289415 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 12
7 COSM90652475 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 12
8 COSM90649111 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-3275A>T p.? 3:10146512-10146512 12
9 COSM88289113 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 12
10 COSM88290937 VHL kidney,NS,renal cell carcinoma,chromophobe cell c.452T>G p.I151S 3:10146625-10146625 12
11 COSM90649287 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 12
12 COSM88291115 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.257C>T p.P86L 3:10142104-10142104 12
13 COSM88297043 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 12
14 COSM90650671 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-3261T>C p.? 3:10146526-10146526 12
15 COSM88292918 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 12
16 COSM88288959 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 12
17 COSM88292107 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 12
18 COSM90651486 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.257C>T p.P86L 3:10142104-10142104 12
19 COSM90652409 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 12
20 COSM88293667 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 12
21 COSM90657935 VHL kidney,NS,carcinoma,renal cell c.362G>T p.C121F 3:10149808-10149808 12
22 COSM90651301 VHL kidney,NS,renal cell carcinoma,chromophobe cell c.341-3162T>G p.? 3:10146625-10146625 12
23 COSM90649307 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 12
24 COSM88297049 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.333C>T p.S111= 3:10142180-10142180 12
25 COSM88289297 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 12
26 COSM88290436 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 12
27 COSM88292022 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 12
28 COSM90653546 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.377G>A p.R126Q 3:10149823-10149823 12
29 COSM88289282 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 12
30 COSM88291948 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 12
31 COSM90654329 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.425C>A p.S142* 3:10149871-10149871 12
32 COSM90657942 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.333C>T p.S111= 3:10142180-10142180 12
33 COSM90648957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.359G>A p.R120Q 3:10149805-10149805 12
34 COSM90652570 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 12
35 COSM90667186 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 12
36 COSM88304413 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 12
37 COSM85360217 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176= 3:124737785-124737785 12
38 COSM140873589 TTN kidney,NS,carcinoma,chromophobe renal cell carcinoma c.96772A>T p.T32258S 2:178543201-178543201 12
39 COSM143616248 TTN kidney,NS,carcinoma,chromophobe renal cell carcinoma c.91849A>T p.T30617S 2:178543201-178543201 12
40 COSM97044905 TTN kidney,NS,carcinoma,chromophobe renal cell carcinoma c.69952A>T p.T23318S 2:178543201-178543201 12
41 COSM91934735 TTN kidney,NS,carcinoma,chromophobe renal cell carcinoma c.89068A>T p.T29690S 2:178543201-178543201 12
42 COSM114138573 TTN kidney,NS,carcinoma,chromophobe renal cell carcinoma c.69577A>T p.T23193S 2:178543201-178543201 12
43 COSM90048068 TTN kidney,NS,carcinoma,chromophobe renal cell carcinoma c.70153A>T p.T23385S 2:178543201-178543201 12
44 COSM139673530 TTN kidney,NS,carcinoma,chromophobe renal cell carcinoma c.91849A>T p.T30617S 2:178543201-178543201 12
45 COSM136625321 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1152+1G>T p.? 16:2060814-2060814 12
46 COSM101188763 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.584G>T p.C195F 16:2056726-2056726 12
47 COSM90412033 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 12
48 COSM102627070 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1717-1G>C p.? 16:2070455-2070455 12
49 COSM150363299 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 12
50 COSM149813211 TSC2 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.3253C>T p.R1085C 16:2079657-2079657 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 296)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 SLC12A1 solute carrier family 12 member 1 Kidney - 10.96 0.000
2 NAT8 N-acetyltransferase 8 (putative) Kidney - 9.85 0.000
3 CALB1 calbindin 1 Kidney - 9.44 0.000
4 GLYAT glycine-N-acyltransferase Kidney - 9.24 0.000
5 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 Kidney - 9.21 0.000
6 FABP1 fatty acid binding protein 1 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 NPHS2 stomatin family member, podocin Kidney - 8.34 0.000
10 CFTR CF transmembrane conductance regulator Kidney + 8.22 0.000
11 G6PC1 glucose-6-phosphatase catalytic subunit 1 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, fructose-bisphosphate B Kidney - 8.03 0.000
15 GSTA1 glutathione S-transferase alpha 1 Kidney - 8.01 0.000
16 SCNN1G sodium channel epithelial 1 subunit gamma 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 dimethylaniline monoxygenase 1 Kidney - 7.57 0.000
22 BBOX1 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 Kidney - 7.53 0.000
25 ANPEP alanyl aminopeptidase, membrane 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 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 member 8 Kidney - 7.20 0.000
34 DHRS2 dehydrogenase/reductase 2 Kidney + 7.18 0.000
35 UGT2A3 UDP glucuronosyltransferase family 2 member 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 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 member 13 Kidney - 6.97 0.000
43 CYP4A11 cytochrome P450 family 4 subfamily A member 11 Kidney - 6.90 0.000
44 CYP4A22 cytochrome P450 family 4 subfamily A member 22 Kidney - 6.89 0.000
45 SLC22A2 solute carrier family 22 member 2 Kidney - 6.89 0.000
46 GLYATL1 glycine-N-acyltransferase like 1 Kidney - 6.89 0.000
47 GBA3 glucosylceramidase beta 3 (gene/pseudogene) Kidney - 6.88 0.000
48 UPB1 beta-ureidopropionase 1 Kidney - 6.88 0.000
49 LUM lumican Kidney - 6.88 0.000
50 NTRK2 neurotrophic receptor tyrosine kinase 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 9.16 CLDN8 CLDN7
2 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 8.96 HNF1B HNF1A
3 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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