CRCC
MCID: CHR177
MIFTS: 55

Chromophobe Renal Cell Carcinoma (CRCC)

Categories: Cancer diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Chromophobe Renal Cell Carcinoma

MalaCards integrated aliases for Chromophobe Renal Cell Carcinoma:

Name: Chromophobe Renal Cell Carcinoma 11 19 58 28 5 14 16 71
Renal Cell Carcinoma, Chromophobe Cell 11
Chromophobe Renal Cell Adenocarcinoma 58
Chromophobe Carcinoma of Kidney 11
Chromophobe Renal Carcinoma 75
Chromophobe Adenocarcinoma 11
Chromophobe Carcinoma 71
Kidney Chromophobe 11
Chrcc 19
Crcc 19

Characteristics:


Prevelance:

<1/1000000 (Europe) 58

Age Of Onset:

Adult,Elderly 58

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 11 DOID:4471
MeSH 43 D002292
NCIt 49 C4146
SNOMED-CT 68 128667008
ICD10 via Orphanet 32 C64
UMLS via Orphanet 72 C1266042
Orphanet 58 ORPHA319303
UMLS 71 C1266042 C3887514

Summaries for Chromophobe Renal Cell Carcinoma

Orphanet: 58 Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.

MalaCards based summary: Chromophobe Renal Cell Carcinoma, also known as renal cell carcinoma, chromophobe cell, is related to renal cell carcinoma, nonpapillary and collecting duct carcinoma, and has symptoms including flank pain An important gene associated with Chromophobe Renal Cell Carcinoma is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways is Clear cell renal cell carcinoma pathways. The drugs Sorafenib and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include kidney, breast and myeloid.

GARD: 19 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.

Disease Ontology: 11 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: 75 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 155)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, nonpapillary 33.1 VHL SLC25A16 SIGLEC5 SETD2 RNF139 PBRM1
2 collecting duct carcinoma 32.7 VHL SETD2 RNF139 PBRM1 OGG1 KRT7
3 oncocytoma 32.3 VHL KRT7 HNF1B FLCN CLDN8
4 renal oncocytoma 32.3 KRT7 FLCN CLDN8
5 kidney cancer 32.0 VHL SETD2 MIR200B ICOSLG FLCN
6 renal cell carcinoma, papillary, 1 31.7 VHL SLC25A16 SETD2 PBRM1 KRT7 FLCN
7 sarcomatoid renal cell carcinoma 31.2 PBRM1 KRT7
8 polycystic liver disease 1 with or without kidney cysts 30.8 KRT7 HNF1B FLCN
9 eosinophilic variant of chromophobe renal cell carcinoma 11.6
10 birt-hogg-dube syndrome 11.4
11 classic variant of chromophobe renal cell carcinoma 11.4
12 renal cell carcinoma, xp11-associated 11.3
13 posttransplant acute limbic encephalitis 10.6
14 epithelial-myoepithelial carcinoma 10.6
15 rare tumor 10.5
16 clear cell papillary renal cell carcinoma 10.5 PBRM1 HNF1A
17 hereditary renal cell carcinoma 10.5 VHL RNF139 PBRM1 FLCN
18 renal pelvis carcinoma 10.5 SETD2 PBRM1 KRT7
19 osteogenic sarcoma 10.5
20 angiomyolipoma 10.5
21 gastric signet ring cell adenocarcinoma 10.5 SIGLEC5 KRT7
22 chromophil adenoma of the kidney 10.4 PBRM1 KRT7
23 krukenberg carcinoma 10.4 KRT7 HNF1B
24 marginal zone b-cell lymphoma 10.4 SIGLEC5 MIR200B ICOSLG
25 salivary gland disease 10.4 SIGLEC5 KRT7 ICOSLG
26 ovarian cystadenocarcinoma 10.4 SLC25A16 SIGLEC5 ICOSLG
27 endocervical carcinoma 10.4 SLC25A16 SIGLEC5 KRT7 ICOSLG
28 endocervical adenocarcinoma 10.4 SLC25A16 SIGLEC5 KRT7 ICOSLG
29 uterine corpus cancer 10.4 SLC25A16 SIGLEC5 ICOSLG
30 cholangiocarcinoma 10.4 PBRM1 OGG1 MIR200B KRT7
31 tuberous sclerosis 2 10.4
32 ovary adenocarcinoma 10.4 SLC25A16 SIGLEC5 KRT7 ICOSLG
33 rectum adenocarcinoma 10.4 SLC25A16 SIGLEC5 KRT7
34 brain glioma 10.4 SLC25A16 SIGLEC5 ICOSLG
35 middle ear adenocarcinoma 10.4 VHL KRT7
36 ovarian serous cystadenocarcinoma 10.4 SLC25A16 SIGLEC5 ICOSLG
37 potocki-shaffer syndrome 10.4 SIGLEC5 MIR200B ICOSLG
38 intrahepatic bile duct adenoma 10.4 KRT7 HNF1A
39 suppression of tumorigenicity 12 10.4 SLC25A16 SIGLEC5 ICOSLG
40 endobronchial lipoma 10.4 KRT7 HNF1A
41 chromosomal deletion syndrome 10.4 SIGLEC5 MIR200B ICOSLG
42 maturity-onset diabetes of the young, type 6 10.4 HNF1B HNF1A
43 lymphoma, mucosa-associated lymphoid type 10.4 SIGLEC5 MIR200B ICOSLG
44 down syndrome 10.4
45 tuberous sclerosis 1 10.4
46 wilms tumor 1 10.4
47 wilms tumor 5 10.4
48 neuroendocrine tumor 10.4
49 breast ductal carcinoma 10.4
50 tibial adamantinoma 10.4 KRT7 FLCN

Graphical network of the top 20 diseases related to Chromophobe Renal Cell Carcinoma:



Diseases related to Chromophobe Renal Cell Carcinoma

Symptoms & Phenotypes for Chromophobe Renal Cell Carcinoma

UMLS symptoms related to Chromophobe Renal Cell Carcinoma:


flank pain

Drugs & Therapeutics for Chromophobe Renal Cell Carcinoma

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorafenib Approved, Investigational Phase 1, Phase 2 284461-73-0 216239
2
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3 135329020
3
Radium Ra 223 dichloride Approved, Investigational Phase 2 444811-40-9
4
Sunitinib Approved, Investigational Phase 2 557795-19-4 5329102
5
Nivolumab Approved Phase 2 946414-94-4
6
Ipilimumab Approved Phase 2 477202-00-9
7
Isotretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4, 4759-48-2 5538 444795 5282379
8 Antibodies, Monoclonal Phase 2
9 Antibodies Phase 2
10 Immunoglobulins Phase 2
11 Angiogenesis Inhibitors Phase 2
12 Protein Kinase Inhibitors Phase 2
13 Antineoplastic Agents, Immunological Phase 2
14 Immune Checkpoint Inhibitors Phase 2
15 Pharmaceutical Solutions Phase 2
16
L-Glutamine Approved, Investigational, Nutraceutical 56-85-9 5961

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 II Randomized Trial of Radium-223 Dichloride and Cabozantinib in Patients With Advanced Renal Cell Carcinoma With Bone Metastasis (RadiCal) Recruiting NCT04071223 Phase 2 Cabozantinib S-malate
3 A Phase 2 Study of Cabozantinib in Combination With Nivolumab and Ipilimumab in Advanced Non-Clear Cell Renal Cell Carcinoma Recruiting NCT04413123 Phase 2 Cabozantinib;Nivolumab;Ipilimumab
4 A Phase 2 Open-Label Study of Nivolumab Combined With Cabozantinib in Subjects With Advanced or Metastatic Non-Clear Cell Renal Cell Carcinoma (CA209-9KU) Recruiting NCT03635892 Phase 2 cabozantinib;nivolumab
5 A Phase II Study of Ipilimumab, Cabozantinib, and Nivolumab in Rare Genitourinary Cancers (ICONIC) Recruiting NCT03866382 Phase 2 Cabozantinib S-malate
6 A Phase II of Single Agent Cabozantinib in Patients With Locally Advanced or Metastatic Non-clear Cell Renal Cell Carcinoma Post Immunotherapy or Who Are Unsuitable for Immunotherapy (ANZUP1802) Recruiting NCT03685448 Phase 2 Cabozantinib
7 Cabosun Ii: Cabozantinib Versus Sunitinib for Metastatic Variant Histology Renal Cell Carcinoma Active, not recruiting NCT03541902 Phase 2 Cabozantinib;Sunitinib Malate
8 A Phase II Efficacy Trial of Pazopanib in Non-clear Cell Metastatic Renal Cell Cancer (mRCC) PINCR Active, not recruiting NCT01767636 Phase 2 Pazopanib Hydrochloride
9 A Phase II Sequential Treatment Trial of Single Agent Nivolumab, Then Combination Ipilimumab + Nivolumab in Metastatic or Unresectable Non-Clear Cell Renal Cell Carcinoma (ANZUP1602). Active, not recruiting NCT03177239 Phase 2 Nivolumab;Ipilimumab
10 An Investigation of Kidney and Urothelial Tumor Metabolism in Patients Undergoing Surgical Resection and/or Biopsy Recruiting NCT04623502

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 28

Anatomical Context for Chromophobe Renal Cell Carcinoma

Organs/tissues related to Chromophobe Renal Cell Carcinoma:

MalaCards : Kidney, Breast, Myeloid, Bone, Lymph Node, Spinal Cord, Thyroid

Publications for Chromophobe Renal Cell Carcinoma

Articles related to Chromophobe Renal Cell Carcinoma:

(show top 50) (show all 1079)
# Title Authors PMID Year
1
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 62 5
15649945 2005
2
Clinical and genetic studies of Birt-Hogg-Dubé syndrome. 62 5
12471204 2002
3
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. 5
19562744 2009
4
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. 5
9754819 1998
5
Contrast-Enhanced Ultrasound Features of Adult Xp11.2 Translocation Renal Cell Carcinoma: Differential Diagnosis With Three Main Renal Cell Carcinoma Subtypes. 62
35103338 2022
6
Alpha-2-Heremans-Schmid-glycoprotein (AHSG) a potential biomarker associated with prognosis of chromophobe renal cell carcinoma: The PROPOLIS study. 62
36262809 2022
7
TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : A Targeted Next-generation Sequencing and Gene Expression Profiling Study. 62
35980750 2022
8
MALDI mass spectrometry imaging - Diagnostic pathways and metabolites for renal tumor entities. 62
36198279 2022
9
Low-grade oncocytic tumour of the kidney is characterised by genetic alterations of TSC1, TSC2, MTOR or PIK3CA and consistent GATA3 positivity. 62
36208048 2022
10
[CK7+/CD117- low grade oncocytic tumor of the kidney: a clinicopathological analysis]. 62
36207909 2022
11
Eosinophilic solid and cystic renal cell carcinoma: a review of literature focused on radiological findings and differential diagnosis. 62
36222870 2022
12
Histologic diversity in chromophobe renal cell carcinoma does not impact survival outcome: A comparative international multi-institutional study. 62
35609473 2022
13
Characterization of Intercalated Cell Markers KIT and LINC01187 in Chromophobe Renal Cell Carcinoma and Other Renal Neoplasms. 62
36250542 2022
14
KLK4 silencing inhibits the growth of chromophobe renal cell carcinoma through ERK/AKT signaling pathway. 62
36260980 2022
15
Nomogram predictive model for differentiation between renal oncocytoma and chromophobe renal cell carcinoma at multi-phasic CT: a retrospective study. 62
35764438 2022
16
Two case reports of immune checkpoint therapy on chromophobe renal cell carcinoma with sarcomatoid differentiation. 62
36186227 2022
17
Low grade oncocytic tumors of the kidney: a clinically relevant approach for the workup and accurate diagnosis. 62
35896615 2022
18
Cartilage oligomeric matrix protein acts as a molecular biomarker in multiple cancer types. 62
36255654 2022
19
WHO 2022 landscape of papillary and chromophobe renal cell carcinoma. 62
35596618 2022
20
The 2022 revision of World Health Organization classification of tumors of the urinary system and male genital organs: advances and challenges. 62
36084769 2022
21
Do we need an updated classification of oncocytic renal tumors? : Emergence of low-grade oncocytic tumor (LOT) and eosinophilic vacuolated tumor (EVT) as novel renal entities. 62
35273336 2022
22
Algorithm-Based Approach to the Histological Routine Diagnosis of Renal Oncocytic Tumors in Core Biopsy Specimens. 62
36169870 2022
23
Clinicopathologic and Immunohistochemical Characterization of Sarcomatoid Chromophobe Renal Cell Carcinoma: An Analysis of 22 Cases. 62
35687360 2022
24
The role of Claudin-6 in chromophobe renal cell carcinoma. 62
36128931 2022
25
Start of a New Era: Management of Non-Clear Cell Renal Cell Carcinoma in 2022. 62
35438388 2022
26
Panels of mRNAs and miRNAs for decoding molecular mechanisms of Renal Cell Carcinoma (RCC) subtypes utilizing Artificial Intelligence approaches. 62
36180558 2022
27
A novel molecular signature identifies mixed subtypes in renal cell carcinoma with poor prognosis and independent response to immunotherapy. 62
36109798 2022
28
A triple-classification for differentiating renal oncocytoma from renal cell carcinoma subtypes and CK7 expression evaluation: a radiomics analysis. 62
36096829 2022
29
LOT and HOT … or not. The proliferation of clinically insignificant and poorly characterised types of renal neoplasia. 62
36270849 2022
30
TFE3 and TFEB-rearranged renal cell carcinomas: an immunohistochemical panel to differentiate from common renal cell neoplasms. 62
35980471 2022
31
[Clinicopathological features of low-grade oncocytic renal tumor (CD117-negative, cytokeratin 7-positive): report of seven cases]. 62
35922161 2022
32
Circular RNA circPOLR2A promotes clear cell renal cell carcinoma progression by facilitating the UBE3C-induced ubiquitination of PEBP1 and, thereby, activating the ERK signaling pathway. 62
35840930 2022
33
Patient-derived renal cell carcinoma organoids for personalized cancer therapy. 62
35802820 2022
34
Renal collision tumours: three additional case reports. 62
35870918 2022
35
Comparative Analysis for the Distinction of Chromophobe Renal Cell Carcinoma from Renal Oncocytoma in Computed Tomography Imaging Using Machine Learning Radiomics Analysis. 62
35892868 2022
36
Small cell variant of chromophobe renal cell carcinoma: Clinicopathologic and molecular-genetic analysis of 10 cases. 62
35276058 2022
37
The Histologic Diversity of Chromophobe Renal Cell Carcinoma With Emphasis on Challenges Encountered in Daily Practice. 62
35470289 2022
38
A unique case of chromophobe renal cell carcinoma seeding after biopsy. 62
35573083 2022
39
Application of different methods used to measure the apparent diffusion coefficient of renal cell carcinoma on the same lesion and its correlation with ISUP nuclear grading. 62
35570223 2022
40
Development of a Single Molecule Counting Assay to Differentiate Chromophobe Renal Cancer and Oncocytoma in Clinics. 62
35805014 2022
41
Hypersensitivity to ferroptosis in chromophobe RCC is mediated by a glutathione metabolic dependency and cystine import via solute carrier family 7 member 11. 62
35867762 2022
42
Real world outcomes of biopsy-proven oncocytic neoplasm of the kidney managed by surveillance. 62
35783590 2022
43
Cytotoxic innate lymphoid cells sense cancer cell-expressed interleukin-15 to suppress human and murine malignancies. 62
35618834 2022
44
GPNMB expression identifies TSC1/2/mTOR-associated and MiT family translocation-driven renal neoplasms. 62
35072947 2022
45
NADH dehydrogenase subunit 1/4/5 promotes survival of acute myeloid leukemia by mediating specific oxidative phosphorylation. 62
35425997 2022
46
NKX6-1 Is a Less Sensitive But Specific Biomarker of Chromophobe Renal Cell Carcinoma. 62
35256556 2022
47
Intraoperative indocyanine green fluorescence navigation in a robot-assisted partial nephrectomy for a large renal cell carcinoma in a horseshoe kidney. 62
35725279 2022
48
The Value of Contrast-Enhanced Ultrasound in Diagnosing Small Renal Cell Carcinoma Subtypes and Angiomyolipoma. 62
34499770 2022
49
Surgical outcomes of robot-assisted laparoscopic partial nephrectomy for cystic renal cell carcinoma. 62
34342799 2022
50
Young age is associated with decreased recurrence for renal cell carcinoma. 62
35691035 2022

Variations for Chromophobe Renal Cell Carcinoma

ClinVar genetic disease variations for Chromophobe Renal Cell Carcinoma:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNF1B NM_000458.4(HNF1B):c.46del (p.Leu16fs) DEL Pathogenic
12648 GRCh37: 17:36104830-36104830
GRCh38: 17:37744839-37744839
2 FLCN FLCN, 2-BP DEL, 1284TC AND 2-BP INS, 1284AC INDEL Pathogenic
3368 GRCh37:
GRCh38:
3 HNF1A NM_000545.8(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:

8 (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 COSM84928320 TMEM74 kidney,NS,renal cell carcinoma,chromophobe c.289C>T p.R97W 8:108784810-108784810 21
2 COSM132661234 PGM1 kidney,NS,renal cell carcinoma,chromophobe c.371C>T p.P124L 1:63636322-63636322 21
3 COSM93701699 PGM1 kidney,NS,renal cell carcinoma,chromophobe c.962C>T p.P321L 1:63636322-63636322 21
4 COSM93695662 PGM1 kidney,NS,renal cell carcinoma,chromophobe c.1016C>T p.P339L 1:63636322-63636322 21
5 COSM98447375 PC kidney,NS,renal cell carcinoma,chromophobe c.2525G>A p.R842Q 11:66850413-66850413 21
6 COSM98391892 PC kidney,NS,renal cell carcinoma,chromophobe c.2525G>A p.R842Q 11:66850413-66850413 21
7 COSM98478425 PC kidney,NS,renal cell carcinoma,chromophobe c.2525G>A p.R842Q 11:66850413-66850413 21
8 COSM90564445 NCAPD2 kidney,NS,renal cell carcinoma,chromophobe c.2092C>T p.R698C 12:6522965-6522965 21
9 COSM86377858 MYBL2 kidney,NS,renal cell carcinoma,chromophobe c.1249C>T p.R417C 20:43702787-43702787 21
10 COSM99824496 MYBL2 kidney,NS,renal cell carcinoma,chromophobe c.1177C>T p.R393C 20:43702787-43702787 21
11 COSM86856214 MMP3 kidney,NS,renal cell carcinoma,chromophobe c.946C>T p.R316C 11:102839233-102839233 21
12 COSM85130249 KALRN kidney,NS,renal cell carcinoma,chromophobe c.236G>A p.R79H 3:124632570-124632570 21
13 COSM94847406 KALRN kidney,NS,renal cell carcinoma,chromophobe c.5327G>A p.R1776H 3:124632570-124632570 21
14 COSM84241525 GDF11 kidney,NS,renal cell carcinoma,chromophobe c.935G>A p.R312H 12:55749593-55749593 21
15 COSM96464337 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
16 COSM120131118 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
17 COSM96399394 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.137C>T p.T46M 1:216677426-216677426 21
18 COSM100095379 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
19 COSM144964762 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
20 COSM119857909 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
21 COSM119547894 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
22 COSM96424153 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
23 COSM106279867 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.122C>T p.T41M 1:216677426-216677426 21
24 COSM96325846 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
25 COSM94257057 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
26 COSM113716812 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
27 COSM94799277 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
28 COSM94816475 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.53C>T p.T18M 1:216677426-216677426 21
29 COSM94073535 BRINP3 kidney,NS,renal cell carcinoma,chromophobe c.346C>T p.R116C 1:190281641-190281641 21
30 COSM96901182 ARHGEF11 kidney,NS,renal cell carcinoma,chromophobe c.583-1G>A p.? 1:156971817-156971817 21
31 COSM94314564 ARHGEF11 kidney,NS,renal cell carcinoma,chromophobe c.583-1774G>A p.? 1:156971817-156971817 21
32 COSM88297043 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 20
33 COSM90657935 VHL kidney,NS,carcinoma,renal cell c.362G>T p.C121F 3:10149808-10149808 20
34 COSM85360217 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176= 3:124737785-124737785 20
35 COSM93517001 TRIO kidney,NS,carcinoma,renal cell c.1505A>G p.N502S 5:14508136-14508136 20
36 COSM143919608 TRIO kidney,NS,carcinoma,renal cell c.706-1273A>G p.? 5:14508136-14508136 20
37 COSM89062698 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 20
38 COSM90865192 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 2:7020581-7020581 20
39 COSM94389604 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 20
40 COSM94442225 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 20
41 COSM94492333 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 20
42 COSM92824042 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 20
43 COSM94232725 RABGAP1 kidney,NS,carcinoma,renal cell c.1749T>A p.H583Q 9:123020414-123020414 20
44 COSM106795558 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 20
45 COSM130825760 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 20
46 COSM94057597 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 20
47 COSM126664114 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 20
48 COSM131800227 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 20
49 COSM114430588 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 20
50 COSM100863866 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 11:118497991-118497991 20

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

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

# Super pathways Score Top Affiliating Genes
1 10.73 VHL SETD2 PBRM1

GO Terms for Chromophobe Renal Cell Carcinoma

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

# Name GO ID Score Top Affiliating Genes
1 regulation of pronephros size GO:0035565 8.8 HNF1B HNF1A

Sources for Chromophobe Renal Cell Carcinoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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