RCCP1
MCID: RNL065
MIFTS: 74

Renal Cell Carcinoma, Papillary, 1 (RCCP1)

Categories: Cancer diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal Cell Carcinoma, Papillary, 1

MalaCards integrated aliases for Renal Cell Carcinoma, Papillary, 1:

Name: Renal Cell Carcinoma, Papillary, 1 56 29 6
Papillary Renal Cell Carcinoma 12 52 58 29 6 15 17 71
Papillary Renal Cell Carcinoma, Sporadic 6 43 71
Papillary Renal Cell Adenocarcinoma 52 58
Renal Cell Carcinoma, Papillary 56 13
Rccp 52 73
Renal Cell Carcinoma, Papillary, 1, Familial and Somatic 56
Papillary Renal Cell Carcinoma, Bilateral - 52
Papillary Renal Cell Carcinoma, Familial - 52
Papillary Renal Cell Carcinoma, Multiple - 52
Papillary Renal Cell Carcinoma, Sporadic - 52
Hereditary Papillary Renal Cell Carcinoma 58
Carcinoma, Renal Cell, Papillary, Type 1 39
Sporadic Papillary Renal Cell Carcinoma 12
Papillary Renal Carcinoma, Malignant - 52
Type 1 Papillary Renal Cell Carcinoma 71
Hereditary Papillary Renal Carcinoma 71
Chromophilic Renal Cell Carcinoma 73
Chromophil Carcinoma of Kidney 12
Renal Cell Carcinoma Papillary 73
Papillary Kidney Carcinoma 12
Renal Cell Carcinoma 71
Renal Adenocarcinoma 52
Rccp1 56
Hprcc 58
Prcc 73

Characteristics:

Orphanet epidemiological data:

58
hereditary papillary renal cell carcinoma
Inheritance: Autosomal dominant; Age of onset: Adult;

HPO:

31
renal cell carcinoma, papillary, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4465
OMIM 56 605074
NCIt 49 C27890 C6975
SNOMED-CT 67 4797003
MESH via Orphanet 44 C538614
ICD10 via Orphanet 33 C64
UMLS via Orphanet 72 C0879257 C1306837 C2931899
SNOMED-CT via HPO 68 263681008
UMLS 71 C0007134 C0879257 C1306837 more

Summaries for Renal Cell Carcinoma, Papillary, 1

OMIM : 56 Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850). (605074)

MalaCards based summary : Renal Cell Carcinoma, Papillary, 1, also known as papillary renal cell carcinoma, is related to clear cell papillary renal cell carcinoma and endometrial clear cell adenocarcinoma, and has symptoms including flank pain An important gene associated with Renal Cell Carcinoma, Papillary, 1 is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Dopamine and Nicotine have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and brain, and related phenotypes are papillary renal cell carcinoma and Decreased viability

Disease Ontology : 12 A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.

NIH Rare Diseases : 52 Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas. R enal cell carcinoma s are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney. The term "papillary" describes the finger-like projections that can be found in most of the tumors . PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive . Though the exact cause of papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer ) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy , chemotherapy , biological therapy , or targeted therapy .

UniProtKB/Swiss-Prot : 73 Renal cell carcinoma papillary: A subtype of renal cell carcinoma tending to show a tubulo-papillary architecture formed by numerous, irregular, finger-like projections of connective tissue. Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium.

Related Diseases for Renal Cell Carcinoma, Papillary, 1

Diseases related to Renal Cell Carcinoma, Papillary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 437)
# Related Disease Score Top Affiliating Genes
1 clear cell papillary renal cell carcinoma 35.0 VHL MITF
2 endometrial clear cell adenocarcinoma 33.0 VHL TP53 PRCC
3 kidney benign neoplasm 33.0 RHEB PRCC MTOR
4 renal cell carcinoma, nonpapillary 32.4 VHL TP53 SDHB PTEN PRCC PIK3CA
5 adenoma 32.1 VHL TP53 PIK3CA MSH2 CTNNB1 BRAF
6 clear cell renal cell carcinoma 31.7 VHL TP53 PTEN MTOR MET CTNNB1
7 gastrointestinal stromal tumor 31.7 TP53 SDHB PTEN FGFR3 ERBB2 BRAF
8 papillary adenoma 31.7 TP53 PRCC HRAS
9 leiomyomatosis 31.6 VHL SDHB NFE2L2
10 adenocarcinoma 31.6 TP53 PTEN PIK3CA MSH2 MET HRAS
11 transitional cell carcinoma 31.5 TP53 PTEN MSH2 HRAS FGFR3 ERBB2
12 kidney cancer 31.5 VHL TP53 SDHB PTEN PIK3CA NFE2L2
13 thyroid carcinoma 31.5 TP53 PTEN PIK3CA NRAS HRAS CTNNB1
14 lynch syndrome 31.4 TP53 PTEN PIK3CA NRAS MSH2 HRAS
15 neuroendocrine tumor 31.4 VHL SDHB MTOR HRAS
16 colon adenocarcinoma 31.4 TP53 PTEN PIK3CA ERBB2 CTNNB1
17 tuberous sclerosis 31.2 VHL TP53 RHEB PTEN PIK3CA MTOR
18 cholangiocarcinoma 31.2 TP53 PTEN PIK3CA MTOR MET ERBB2
19 cowden syndrome 1 31.2 SDHB RHEB PTEN PIK3CA MTOR
20 liposarcoma 31.2 TP53 PTEN PIK3CA MSH2 CTNNB1
21 rectum adenocarcinoma 31.2 TP53 PIK3CA MSH2 HRAS ERBB2
22 adenoid cystic carcinoma 31.2 TP53 PTEN PIK3CA MTOR HRAS ERBB2
23 lung cancer susceptibility 3 31.2 TP53 PTEN PIK3CA NRAS NFE2L2 MTOR
24 testicular germ cell tumor 31.2 TP53 PTEN HRAS FGFR3
25 colorectal adenocarcinoma 31.2 TP53 PTEN MSH2 HRAS ERBB2 CTNNB1
26 kidney angiomyolipoma 31.2 RHEB PRCC MTOR
27 intrahepatic cholangiocarcinoma 31.2 TP53 PTEN ERBB2 CTNNB1
28 prostate cancer 31.2 TP53 PTEN PIK3CA NFE2L2 MTOR MSH2
29 teratoma 31.1 TP53 PTEN FGFR3 CTNNB1
30 pheochromocytoma 31.1 VHL SDHB MITF HRAS ERBB2
31 mature teratoma 31.1 TP53 ERBB2 BRAF
32 lipomatosis 31.1 SDHB PTEN PIK3CA
33 hemangioma 31.1 VHL TP53 PTEN MTOR
34 tuberous sclerosis 1 31.1 RHEB PTEN MTOR
35 lymphoma 31.1 TP53 PIK3CA NRAS MSH2 MET BRAF
36 papillary adenocarcinoma 31.1 TP53 NFE2L2 ERBB2
37 in situ carcinoma 31.1 TP53 PTEN HRAS ERBB2
38 adrenocortical carcinoma, hereditary 30.9 TP53 PIK3CA NRAS CTNNB1 BRAF
39 neuroblastoma 30.8 TP53 SDHB PTEN PIK3CA NRAS NFE2L2
40 myeloma, multiple 30.8 TP53 PTEN NRAS MTOR MET HRAS
41 childhood kidney cell carcinoma 30.8 PRCC MITF
42 hepatocellular carcinoma 30.8 TP53 PTEN PIK3CA NRAS NFE2L2 MTOR
43 leukemia 30.8 TP53 NRAS HRAS ERBB2 BRAF ATM
44 thymoma 30.8 TP53 PIK3CA MTOR HRAS
45 exanthem 30.7 MTOR HRAS ERBB2
46 meningioma, familial 30.7 TP53 RHEB PTEN ERBB2
47 metanephric adenoma 11.7
48 renal cell carcinoma, xp11-associated 11.6
49 hereditary leiomyomatosis and renal cell cancer 11.3
50 renal pelvis carcinoma 11.1

Graphical network of the top 20 diseases related to Renal Cell Carcinoma, Papillary, 1:



Diseases related to Renal Cell Carcinoma, Papillary, 1

Symptoms & Phenotypes for Renal Cell Carcinoma, Papillary, 1

Human phenotypes related to Renal Cell Carcinoma, Papillary, 1:

31
# Description HPO Frequency HPO Source Accession
1 papillary renal cell carcinoma 31 HP:0006766

Clinical features from OMIM:

605074

UMLS symptoms related to Renal Cell Carcinoma, Papillary, 1:


flank pain

GenomeRNAi Phenotypes related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

26 (show top 50) (show all 68)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 11.02 BRAF MTOR PIK3CA HRAS
2 Decreased viability GR00221-A-1 11.02 MTOR PIK3CA HRAS FGFR3 NRAS RHEB
3 Decreased viability GR00221-A-2 11.02 PIK3CA HRAS FGFR3 VHL
4 Decreased viability GR00221-A-3 11.02 ATM ERBB2 HRAS FGFR3 NRAS
5 Decreased viability GR00221-A-4 11.02 ATM BRAF ERBB2 MTOR PIK3CA
6 Decreased viability GR00301-A 11.02 BRAF VHL
7 Decreased viability GR00342-S-1 11.02 MTOR
8 Decreased viability GR00342-S-2 11.02 MTOR
9 Decreased viability GR00381-A-1 11.02 BRAF
10 Decreased viability GR00402-S-2 11.02 ATM BRAF ERBB2 MTOR PIK3CA HRAS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.86 RHEB ATM MTOR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.86 MET
13 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.86 FGFR3 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.86 NRAS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.86 FGFR3 PRCC
16 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.86 ATM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.86 NRAS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.86 ATM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.86 MSH2 PTEN ATM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.86 PTEN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.86 PIK3CA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.86 ATM
23 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.86 PTEN RHEB ATM MTOR PIK3CA PRCC
24 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.86 ERBB2 NRAS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.86 PRCC
26 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.86 ERBB2 PRCC
27 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.86 MET
28 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.86 PIK3CA PRCC
29 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.86 ERBB2 PTEN
30 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.86 PRCC
31 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.86 RHEB MTOR
32 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.86 MSH2 PRCC
33 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.86 PIK3CA
34 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.86 MET
35 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.86 MET
36 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.86 PIK3CA
37 Increased shRNA abundance (Z-score > 2) GR00366-A-191 10.86 MET
38 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.86 PRCC
39 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.86 MET
40 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.86 NRAS
41 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.86 PRCC
42 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.86 MSH2 PTEN ATM
43 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.86 ATM
44 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.86 NRAS
45 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.86 ERBB2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.86 MET MSH2
47 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.86 ATM
48 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.86 PTEN RHEB MTOR PIK3CA
49 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.86 MSH2
50 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.86 PIK3CA

MGI Mouse Phenotypes related to Renal Cell Carcinoma, Papillary, 1:

45 (show all 27)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.52 ATM BRAF CTNNB1 ERBB2 FGFR3 MET
2 homeostasis/metabolism MP:0005376 10.52 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
3 growth/size/body region MP:0005378 10.49 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
4 behavior/neurological MP:0005386 10.47 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
5 cardiovascular system MP:0005385 10.47 ATM BRAF CTNNB1 ERBB2 HRAS MET
6 mortality/aging MP:0010768 10.46 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
7 embryo MP:0005380 10.44 ATM BRAF CTNNB1 ERBB2 MET MITF
8 endocrine/exocrine gland MP:0005379 10.44 ATM BRAF CTNNB1 ERBB2 HRAS MET
9 immune system MP:0005387 10.43 ATM BRAF CTNNB1 FGFR3 MET MITF
10 hematopoietic system MP:0005397 10.39 ATM BRAF CTNNB1 FGFR3 MITF MSH2
11 integument MP:0010771 10.39 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
12 digestive/alimentary MP:0005381 10.38 BRAF CTNNB1 ERBB2 FGFR3 HRAS MET
13 craniofacial MP:0005382 10.35 BRAF CTNNB1 ERBB2 FGFR3 HRAS MET
14 neoplasm MP:0002006 10.35 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
15 nervous system MP:0003631 10.33 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
16 normal MP:0002873 10.28 BRAF CTNNB1 ERBB2 FGFR3 HRAS MET
17 limbs/digits/tail MP:0005371 10.24 BRAF CTNNB1 ERBB2 FGFR3 MET MITF
18 muscle MP:0005369 10.19 BRAF CTNNB1 ERBB2 MET MTOR PIK3CA
19 adipose tissue MP:0005375 10.18 ATM BRAF MTOR NFE2L2 PIK3CA PTEN
20 liver/biliary system MP:0005370 10.18 BRAF CTNNB1 MET MITF NFE2L2 NRAS
21 no phenotypic analysis MP:0003012 10.13 CTNNB1 FGFR3 HRAS MET MITF MTOR
22 renal/urinary system MP:0005367 10.1 BRAF CTNNB1 FGFR3 HRAS MET MITF
23 reproductive system MP:0005389 9.96 ATM BRAF CTNNB1 ERBB2 FGFR3 MITF
24 pigmentation MP:0001186 9.85 BRAF CTNNB1 MITF NRAS PTEN TP53
25 respiratory system MP:0005388 9.85 BRAF CTNNB1 ERBB2 FGFR3 HRAS MET
26 skeleton MP:0005390 9.77 BRAF CTNNB1 ERBB2 FGFR3 HRAS MITF
27 vision/eye MP:0005391 9.36 BRAF CTNNB1 FGFR3 MET MITF NRAS

Drugs & Therapeutics for Renal Cell Carcinoma, Papillary, 1

Drugs for Renal Cell Carcinoma, Papillary, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 398)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Nicotine Approved Phase 4 54-11-5 942 89594
3
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
4
Sorafenib Approved, Investigational Phase 4 284461-73-0 216239 406563
5 Neurotransmitter Agents Phase 4
6 Autonomic Agents Phase 4
7 Dopamine Agents Phase 4
8 Psychotropic Drugs Phase 4
9 Central Nervous System Stimulants Phase 4
10 Cholinergic Agents Phase 4
11 Nicotinic Agonists Phase 4
12 Dopamine Uptake Inhibitors Phase 4
13 Antidepressive Agents Phase 4
14 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
15 Protein Kinase Inhibitors Phase 4
16 Liver Extracts Phase 4
17 interferons Phase 4
18
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 437-38-7 3345
19
Clonidine Approved Phase 2, Phase 3 4205-90-7 2803
20
Diphenhydramine Approved, Investigational Phase 3 58-73-1, 147-24-0 3100
21
Promethazine Approved, Investigational Phase 3 60-87-7 4927
22
Medroxyprogesterone acetate Approved, Investigational Phase 3 71-58-9
23
Isotretinoin Approved Phase 3 4759-48-2 5282379 5538
24
Ethanol Approved Phase 3 64-17-5 702
25
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
26
Denosumab Approved Phase 3 615258-40-7
27
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
28
Povidone-iodine Approved Phase 3 25655-41-8
29
Povidone Approved Phase 3 9003-39-8
30
Ipilimumab Approved Phase 3 477202-00-9
31
Axitinib Approved, Investigational Phase 3 319460-85-0 6450551
32
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
33
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
34
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538 444795
35
Abexinostat Investigational Phase 3 783355-60-2
36 Anesthetics, Local Phase 2, Phase 3
37 Central Nervous System Depressants Phase 2, Phase 3
38 Histamine Antagonists Phase 3
39 Histamine H1 Antagonists Phase 3
40 Contraceptive Agents Phase 3
41
Medroxyprogesterone Phase 3 520-85-4 10631
42 Contraceptives, Oral Phase 3
43 Contraceptive Agents, Male Phase 3
44 Calcium, Dietary Phase 3
45 Narcotics Phase 3
46 Shark Cartilage Phase 3
47 Narcotic Antagonists Phase 3
48 Interferon-alpha Phase 3
49 Endothelial Growth Factors Phase 3
50 Immunoglobulin G Phase 3

Interventional clinical trials:

(show top 50) (show all 1233)
# Name Status NCT ID Phase Drugs
1 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4 usage oral angiogenesis inhibitor;stop oral angiogenesis inhibitor
2 An Open Label, Single Arm Trial to Characterize Patients With Metastatic Renal Cell Carcinoma Treated With Everolimus After Failure of the First VEGF-targeted Therapy Completed NCT01266837 Phase 4 Everolimus
3 An Open Label, Single Arm Trial to Evaluate Patients With Metastatic Renal Cell Carcinoma Treated With Everolimus After Failure of First Line Therapy With Sunitinib or Pazopanib Completed NCT01514448 Phase 4 Everolimus (RAD001)
4 A Single-Arm, Open-Label, Multi-Center, Phase Iv, Safety And Efficacy Study Of Sunitinib Malate As First-Line Systemic Therapy In Chinese Patients With Metastatic Renal Cell Carcinoma (Post Approval Commitment Study) Completed NCT00706706 Phase 4 Sunitinib Malate (SU011248)
5 Everolimus (Afinitor) in Patients With Metastatic Renal Cell Carcinoma Following Progression on Prior Bevacizumab Treatment Completed NCT02056587 Phase 4 Everolimus
6 An Open-label, Multi-center Phase 2 Study to Evaluate Everolimus as Monotherapy Treatment for Patients With Metastatic Recurrent and/or Unresectable Renal Cell Carcinoma (EVERMORE). Completed NCT01206764 Phase 4 RAD001
7 A Single Arm Multicentre Study Evaluating Pazopanib in First-line Treatment of Poor-risk Patients With Locally Advanced or Metastatic Renal Cell Carcinoma Completed NCT01521715 Phase 4 Pazopanib
8 Interleukin-2 In An Alternative Dose (The Iliad Trial): Treatment Of Patients With Metastatic Renal Cell Carcinoma With Low Dose Proleukin Completed NCT00006864 Phase 4
9 Comparing the Lozenge to the Patch for Smoking Cessation Completed NCT00365508 Phase 4 nicotine lozenge;nicotine patch
10 Enhancing Tobacco Use Treatment for African American Light Smokers Completed NCT00666978 Phase 4 bupropion hydrochloride
11 ICE-SECRET PROSENSE™ Cryotherapy For Renal Cell Carcinoma Trial Recruiting NCT02399124 Phase 4
12 Mechanism of Sorafenib Resistance in Patients With Advanced Hepatocellular Carcinoma Recruiting NCT02733809 Phase 4 Sorafenib
13 A Phase 3b/4 Safety Trial of Nivolumab (BMS-936558) in Subjects With Advanced or Metastatic Renal Cell Carcinoma (CheckMate 374: CHECKpoint Pathway and Nivolumab Clinical Trial Evaluation 374) Active, not recruiting NCT02596035 Phase 4 Nivolumab
14 A Proof of Concept Study to Evaluate the Use of Metabonomics and Lipidomics in Predicting Toxicity and Efficacy of Anti-VEGF Therapy in Patients With Metastatic Clear Cell Renal Cell Carcinoma Active, not recruiting NCT02570789 Phase 4 patients with sunitinib or pazopanib
15 Therapeutic Drug Monitoring of Sunitinib and Pazopanib in Advanced or Metastatic Renal Cell Carcinoma Active, not recruiting NCT02555748 Phase 4 Pazopanib;Sunitinib
16 Phase 3b/4 Safety Trial of Nivolumab Combined With Ipilimumab in Subjects With Previously Untreated, Advanced or Metastatic RCC (CheckMate 920: CHECKpoint Pathway and nivoluMAb Clinical Trial Evaluation 920) Active, not recruiting NCT02982954 Phase 4 Nivolumab;Ipilimumab
17 Correlation of Contrast Enhanced Ultrasound of Renal Masses With Pathologic Grade: A Prospective Comparison of Quantitative and Qualitative Findings Not yet recruiting NCT03821376 Phase 4 Contrast enhanced ultrasound with Lumason
18 Outcome-related Factors in Patients With Metastatic Renal Cell Carcinoma Treated With Everolimus After Failure of a First-line Treatment With VEGF Inhibitor Terminated NCT02338570 Phase 4 Everolimus
19 A Study of Biological, Pathological and Imagery Markers in the First-line Treatment of Metastatic Clear-cell Renal Cell Carcinoma With Sunitinib BEFORE and AFTER Nephrectomy Terminated NCT00930345 Phase 4 Sunitinib (SUTENT)
20 A Randomized Discontinuation Trial to Determine the Clinical Benefit of Continuation of Sorafenib Following Disease Progression in Patients With Advanced Renal Cell Carcinoma Terminated NCT00352859 Phase 4 Nexavar (Sorafenib, BAY43-9006) with addition of gemcitabine or interferon;Gemcitabine or Interferon (only)
21 Effects of Physical Activity on the Endothelial and Cardiac Function of Patients With Renal Cell Carcinoma Receiving a Thyrosine Kinase Inhibitor (Sunitinib) Unknown status NCT00869011 Phase 3
22 Randomized Comparison of Sequential Therapies With Sunitinib and Sorafenib in Advanced Renal Cell Carcinoma Unknown status NCT01481870 Phase 3 Sorafenib-sunitinib;Sunitinib-sorafenib
23 Randomized Phase III Trial Comparing Immediate Versus Deferred Nephrectomy in Patients With Synchronous Metastatic Renal Cell Carcinoma Unknown status NCT01099423 Phase 3
24 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
25 SORCE: A Phase III Randomised Double-Blind Study Comparing Sorafenib With Placebo in Patients With Resected Primary Renal Cell Carcinoma at High or Intermediate Risk of Relapse Completed NCT00492258 Phase 3 sorafenib tosylate
26 A Multicenter Uncontrolled Study of Sorafenib in Patients With Unresectable and/or Metastatic Renal Cell Carcinoma Completed NCT00586105 Phase 3 Sorafenib (Nexavar, BAY43-9006)
27 Phase 3b, Randomized, Open-Label Study Of Bevacizumab + Temsirolimus Vs. Bevacizumab + Interferon-Alfa As First-Line Treatment In Subjects With Advanced Renal Cell Carcinoma Completed NCT00631371 Phase 3 Bevacizumab;Temsirolimus;Bevacizumab;Interferon-Alfa 9MU
28 A Multi-Center, Randomized Phase III Study of Adjuvant Oncophage® Versus Observation in Subjects With High Risk of Recurrence After Surgical Treatment for Renal Cell Carcinoma Completed NCT00033904 Phase 3 autologous human tumor-derived HSPPC-96
29 Dynamic-Contrast Enhanced MRI Pharmacodynamic Study of BAY 43-9006 in Metastatic Renal Cell Carcinoma Completed NCT00606866 Phase 3 placebo;Sorafenib;Sorafenib
30 Randomized Study of Spinal Anesthesia Compared With Traditional Epidural Anesthesia Concerning Peroperative and Postoperative Pain After Open Nephrectomy in Patients With Renal Cell Carcinoma Completed NCT02030717 Phase 2, Phase 3 klonidin;epidural anesthesia
31 A Phase 3, Randomized Study Of SU011248 Versus Interferon-Alfa As First-Line Systemic Therapy For Patients With Metastatic Renal Cell Carcinoma Completed NCT00083889 Phase 3 Interferon-alfa;SU011248
32 A Randomized Controlled Phase III Adjuvant Trial of High-Dose Bolus IL-2 in Patients With High-Risk Renal Cell Carcinoma Completed NCT00003126 Phase 3 Interleukin-2
33 An Open-label Extension Study to Assess the Safety and Efficacy of Pazopanib in Subjects With Renal Cell Carcinoma Previously Enrolled on Protocol VEG105192 Completed NCT00387764 Phase 3 pazopanib
34 An Open-label, Non-comparative, Treatment Protocol for the Use of BAY 43-9006 (Sorafenib) in Patients With Advanced Renal Cell Carcinoma Completed NCT00478114 Phase 3 sorafenib
35 Extension Protocol for Patients With Chronic Myelogenous Leukemia, Malignant Melanoma or Renal Cell Carcinoma That Have Responded to Treatment With Pegylated-Interferon α-2a or Roferon-A® in Prior Clinical Studies Completed NCT02829775 Phase 2, Phase 3 Pegylated Interferon Alfa-2a;Recombinant Interferon Alfa 2a
36 A Randomized, Controlled Phase III Study Investigating IMA901 Multipeptide Cancer Vaccine in Patients Receiving Sunitinib as First-line Therapy for Advanced/Metastatic Renal Cell Carcinoma Completed NCT01265901 Phase 3 Sunitinib;Cyclophosphamide;IMA901
37 A Randomized Trial Of Temsirolimus Versus Sorafenib As Second-Line Therapy In Patients With Advanced Renal Cell Carcinoma Who Have Failed First-Line Sunitinib Therapy Completed NCT00474786 Phase 3 Sorafenib;temsirolimus (Torisel)
38 A Randomized, Open-label, Multi-center, Phase II/III Study on Treatment With ABR-217620/Naptumomab Estafenatox Combined With IFN-alpha vs. IFN-alpha Alone in Patients With Advanced Renal Cell Carcinoma. Completed NCT00420888 Phase 2, Phase 3 ABR-217620/naptumomab estafenatox;IFN-alpha
39 A Comparative Study of PET/CT Versus Diagnostic CT for the Detection of Clear Cell Renal Cell Carcinoma in Pre-surgical Patients With Renal Masses Using Iodine-124 Labeled Chimeric G250 (124I-cG250) Completed NCT00606632 Phase 3 124-Iodine-cG250 (124I-cG250)
40 Phase III Randomized Sequential Open-label Study to Evaluate the Efficacy and Safety of Sorafenib Followed by Pazopanib Versus Pazopanib Followed by Sorafenib in the Treatment of Advanced / Metastatic Renal Cell Carcinoma Completed NCT01613846 Phase 3 Sorafenib+Pazopanib;Pazopanib+Sorafenib
41 PERCY QUATTRO: Medroxyprogesterone, Interferon Alpha-2a, Interleukin 2 or Combination of Both Cytokines in Patients With Metastatic Renal Carcinoma of Intermediate Prognosis Completed NCT00291369 Phase 3 Interleukin-2;Interferon alfa;medroxyprogesterone acetate
42 A Randomized Phase III Trial Of Interferon Alfa-2B Or Interferon Alfa-2B Plus Bevacizumab In Patients With Advanced Renal Carcinoma Completed NCT00072046 Phase 3
43 An Open Label, Non Comparative, Phase III Study of the Raf Kinase Inhibitor BAY 43-9006 as a Subsequent to First Line Therapy in Patients With Advanced Renal Cell Carcinoma Completed NCT00492986 Phase 3 Nexavar (Sorafenib, BAY43-9006)
44 A Randomised, Double-blind, Placebo Controlled, Multi-center Phase III Study to Evaluate the Efficacy and Safety of Pazopanib (GW786034) Compared to Placebo in Patients With Locally Advanced and/or Metastatic Renal Cell Carcinoma Completed NCT00334282 Phase 3 Pazopanib;placebo
45 A Phase 3, Three-Arm, Randomized, Open-Label Study Of Interferon Alfa Alone, CCI-779 Alone, And The Combination Of Interferon Alfa And CCI-779 In First-Line Poor-Prognosis Subjects With Advanced Renal Cell Carcinoma. Completed NCT00065468 Phase 3 Interferon Alfa;CCI-779;Interferon Alfa and CCI-779
46 An Open-label, Randomized, Multi-center, Phase III Study to Compare the Safety and Efficacy of Dovitinib Versus Sorafenib in Patients With Metastatic Renal Cell Carcinoma After Failure of Anti-angiogenic (VEGF-targeted and mTOR Inhibitor) Therapies Completed NCT01223027 Phase 3 Dovitinib;Sorafenib
47 A Randomised, Double-blind Study to Evaluate the Efficacy and Safety of Avastin Plus Roferon Compared With Placebo Plus Roferon on Overall Survival and Tumor Assessment in Nephrectomised Patients With Metastatic Clear Cell Renal Cell Carcinoma Completed NCT00738530 Phase 3 Bevacizumab [Avastin];Interferon alfa 2a [Roferon];Placebo
48 Open Label, Non-Comparative Treatment Protocol for the Use of Sorafenib in Patients With Advanced Renal Cell Carcinoma Completed NCT00111020 Phase 3 Sorafenib (Nexavar, BAY43-9006)
49 A Randomized, Double-blind, Placebo-controlled, Multicenter Phase III Study to Compare the Safety and Efficacy of RAD001 Plus Best Supportive Care (BSC) Versus BSC Plus Placebo in Patients With Metastatic Carcinoma of the Kidney Which Has Progressed on VEGF Receptor Tyrosine Kinase Inhibitor Completed NCT00410124 Phase 3 RAD001;Placebo
50 A Randomized, Double-blind, Placebo-controlled Phase III Study to Evaluate the Efficacy and Safety of Pazopanib as Adjuvant Therapy for Subjects With Localized or Locally Advanced RCC Following Nephrectomy Completed NCT01235962 Phase 3 pazopanib;placebo

Search NIH Clinical Center for Renal Cell Carcinoma, Papillary, 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Aldesleukin
axitinib
cabozantinib
hydroxyurea
Interferon Alfa-2a
Interferon Alfa-2b
INTERFERON ALFA-3N,HUMAN LEUKOCYTE DERIVED
interferon alfacon-1
Interferon gamma-1b
Interferons
lenvatinib
Medroxyprogesterone
medroxyprogesterone acetate
peginterferon alfa-2a
peginterferon alfa-2b
Recombinant interferon beta-1a
Recombinant interferon beta-1b
sorafenib
sunitinib
sunitinib malate
temsirolimus
Thalidomide

Cochrane evidence based reviews: papillary renal cell carcinoma, sporadic

Genetic Tests for Renal Cell Carcinoma, Papillary, 1

Genetic tests related to Renal Cell Carcinoma, Papillary, 1:

# Genetic test Affiliating Genes
1 Renal Cell Carcinoma, Papillary, 1 29 MET PRCC
2 Papillary Renal Cell Carcinoma 29

Anatomical Context for Renal Cell Carcinoma, Papillary, 1

MalaCards organs/tissues related to Renal Cell Carcinoma, Papillary, 1:

40
Kidney, Lung, Brain, Endothelial, Bone, T Cells, Breast

Publications for Renal Cell Carcinoma, Papillary, 1

Articles related to Renal Cell Carcinoma, Papillary, 1:

(show top 50) (show all 970)
# Title Authors PMID Year
1
Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas. 56 6
9731534 1998
2
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. 56 6
9140397 1997
3
A molecular classification of papillary renal cell carcinoma. 56 61
15994935 2005
4
Review of papillary renal cell carcinoma with focus on clinical and pathobiological aspects. 56 61
12647800 2003
5
Mapping the papillary renal cell carcinoma gene between loci D17S787 and D17S1799 on chromosome 17q21.32. 61 56
10616219 1999
6
The Heidelberg classification of renal cell tumours. 61 56
9390023 1997
7
Hereditary papillary renal cell carcinoma: clinical studies in 10 families. 61 56
7853572 1995
8
Hereditary papillary renal cell carcinoma. 56 61
8308957 1994
9
Papillary renal cell carcinoma: a clinical, radiologic, and pathologic study of 34 cases. 61 56
1000477 1976
10
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
11
Canadian guideline on genetic screening for hereditary renal cell cancers. 6
24319509 2013
12
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 56
21404119 2011
13
Renal-cell carcinoma. 56
16339096 2005
14
Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution. 56
12837690 2003
15
Understanding familial and non-familial renal cell cancer. 56
12351585 2002
16
High incidence of cancer in a family segregating a mutation of the ATM gene: possible role of ATM heterozygosity in cancer. 6
10571946 1999
17
Duplication and overexpression of the mutant allele of the MET proto-oncogene in multiple hereditary papillary renal cell tumours. 56
9715275 1998
18
Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene. 6
9563489 1998
19
Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. 6
7784063 1995
20
Molecular cytogenetics of renal cell tumors. 56
8109322 1993
21
Cytogenetics of papillary renal cell tumors. 56
1958590 1991
22
Hereditary renal-cell carcinoma associated with a chromosomal translocation. 56
470981 1979
23
Computed tomography imaging characteristics of clear cell papillary renal cell carcinoma. 61
31851455 2020
24
Identification of novel prognostic alternative splicing signature in papillary renal cell carcinoma. 61
31407370 2020
25
TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome. 61
31833172 2019
26
Prognostic role of 14q32.31 miRNA cluster in various carcinomas: a systematic review and meta-analysis. 61
31813069 2019
27
Cutaneous metastases of papillary renal cell carcinoma: A case report and review of the literature. 61
31283040 2019
28
Heterogeneous response to target therapy in metastatic papillary renal cell carcinoma evaluated by morphologic and metabolic multimodality imaging: A case report. 61
31852068 2019
29
Proteasome inhibition disrupts the metabolism of fumarate hydratase- deficient tumors by downregulating p62 and c-Myc. 61
31804603 2019
30
Drug resistance in papillary RCC: from putative mechanisms to clinical practicalities. 61
31602010 2019
31
[Renal cell carcinoma in patients with end-stage renal disease: a clinicopathological analysis]. 61
31775432 2019
32
Clear Cell Papillary Renal Cell Carcinoma: A Recent Entity With Distinct Imaging Patterns. 61
31770020 2019
33
Cytoreductive Nephrectomy in Metastatic Papillary Renal Cell Carcinoma: Results from the International Metastatic Renal Cell Carcinoma Database Consortium. 61
31411994 2019
34
Non-contrast imaging characteristics of papillary renal cell carcinoma: implications for diagnosis and subtyping. 61
31629440 2019
35
Long non-coding RNAs as prognostic biomarkers in papillary renal cell carcinoma. 61
31516581 2019
36
Overexpression of interleukin-20 receptor subunit beta (IL20RB) correlates with cell proliferation, invasion and migration enhancement and poor prognosis in papillary renal cell carcinoma. 61
31719751 2019
37
The VENUSS prognostic model to predict disease recurrence following surgery for non-metastatic papillary renal cell carcinoma: development and evaluation using the ASSURE prospective clinical trial cohort. 61
31578141 2019
38
Morphologic subtyping as a prognostic predictor for survival in papillary renal cell carcinoma: Type 1 vs. type 2. 61
31176614 2019
39
Remarkable effect of presurgical nivolumab on originally inoperable papillary renal cell carcinoma with tumor thrombus in inferior vena cava. 61
31559117 2019
40
Integrated Molecular Analysis of Papillary Renal Cell Carcinoma and Precursor Lesions Unfolds Evolutionary Process from Kidney Progenitor-Like Cells. 61
31381885 2019
41
Papillary Renal Cell Carcinomas Rewire Glutathione Metabolism and Are Deficient in Both Anabolic Glucose Synthesis and Oxidative Phosphorylation. 61
31484429 2019
42
Systematic review of ablative therapy for the treatment of renal allograft neoplasms. 61
31559284 2019
43
Rare patients in routine care: Treatment and outcome in advanced papillary renal cell carcinoma in the prospective German clinical RCC-Registry. 61
31498894 2019
44
Clear Cell Papillary Renal Cell Carcinoma. 61
30672334 2019
45
In silico DNA methylation analysis identifies potential prognostic biomarkers in type 2 papillary renal cell carcinoma. 61
31361072 2019
46
Tumour immune microenvironment in primary and metastatic papillary renal cell carcinoma. 61
31494951 2019
47
Genome-wide mutation profiling and related risk signature for prognosis of papillary renal cell carcinoma. 61
31700863 2019
48
Clear cell papillary renal cell carcinoma: molecular profile and virtual karyotype. 61
31175917 2019
49
iPSC-Derived Embryoid Bodies as Models of c-Met-Mutated Hereditary Papillary Renal Cell Carcinoma. 61
31575031 2019
50
Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity. 61
31534204 2019

Variations for Renal Cell Carcinoma, Papillary, 1

ClinVar genetic disease variations for Renal Cell Carcinoma, Papillary, 1:

6 (show top 50) (show all 819) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTNNB1 NM_001904.4(CTNNB1):c.1374A>C (p.Glu458Asp)SNV other 438755 rs1553631848 3:41275208-41275208 3:41233717-41233717
2 PTEN NM_001304718.2(PTEN):c.-363C>GSNV Pathogenic 375958 rs121909224 10:89692904-89692904 10:87933147-87933147
3 TP53 NM_000546.5(TP53):c.841G>T (p.Asp281Tyr)SNV Pathogenic 376585 rs764146326 17:7577097-7577097 17:7673779-7673779
4 TP53 NM_000546.5(TP53):c.841G>A (p.Asp281Asn)SNV Pathogenic 376586 rs764146326 17:7577097-7577097 17:7673779-7673779
5 TP53 NM_000546.5(TP53):c.659A>C (p.Tyr220Ser)SNV Pathogenic 12383 rs121912666 17:7578190-7578190 17:7674872-7674872
6 HRAS NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)SNV Pathogenic 12602 rs104894229 11:534289-534289 11:534289-534289
7 HRAS NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)SNV Pathogenic 12603 rs104894230 11:534288-534288 11:534288-534288
8 HRAS NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)SNV Pathogenic 12613 rs104894229 11:534289-534289 11:534289-534289
9 PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)SNV Pathogenic 13652 rs121913279 3:178952085-178952085 3:179234297-179234297
10 PIK3CA NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)SNV Pathogenic 13653 rs121913279 3:178952085-178952085 3:179234297-179234297
11 VHL NM_000551.3(VHL):c.548C>A (p.Ser183Ter)SNV Pathogenic 2215 rs5030823 3:10191555-10191555 3:10149871-10149871
12 VHL NM_000551.3(VHL):c.481C>T (p.Arg161Ter)SNV Pathogenic 2217 rs5030818 3:10191488-10191488 3:10149804-10149804
13 VHL NM_000551.3(VHL):c.499C>T (p.Arg167Trp)SNV Pathogenic 2218 rs5030820 3:10191506-10191506 3:10149822-10149822
14 ATM ATM, IVS61DS, 2-BP INS, +2TAinsertion Pathogenic 3037
15 PTEN NM_000314.7(PTEN):c.389G>A (p.Arg130Gln)SNV Pathogenic 7829 rs121909229 10:89692905-89692905 10:87933148-87933148
16 MET NM_001127500.3(MET):c.3446T>C (p.Met1149Thr)SNV Pathogenic 13881 rs121913668 7:116418881-116418881 7:116778827-116778827
17 MET NM_001127500.3(MET):c.3616G>T (p.Val1206Leu)SNV Pathogenic 13882 rs121913669 7:116422081-116422081 7:116782027-116782027
18 MET NM_001127500.3(MET):c.3712G>A (p.Val1238Ile)SNV Pathogenic 13883 rs121913670 7:116423383-116423383 7:116783329-116783329
19 MET NM_001127500.3(MET):c.3637C>G (p.Leu1213Val)SNV Pathogenic 13886 rs121913673 7:116422102-116422102 7:116782048-116782048
20 MET NM_001127500.3(MET):c.3335A>G (p.His1112Arg)SNV Pathogenic 13887 rs121913243 7:116417464-116417464 7:116777410-116777410
21 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)SNV Pathogenic 13900 rs11554290 1:115256529-115256529 1:114713908-114713908
22 BRAF NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)SNV Pathogenic 13961 rs113488022 7:140453136-140453136 7:140753336-140753336
23 FGFR3 NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys)SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
24 PIK3CA NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)SNV Pathogenic 13659 rs121913274 3:178936092-178936092 3:179218304-179218304
25 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)SNV Pathogenic 39705 rs121913281 3:178952084-178952084 3:179234296-179234296
26 TP53 NM_000546.5(TP53):c.659A>G (p.Tyr220Cys)SNV Pathogenic 127819 rs121912666 17:7578190-7578190 17:7674872-7674872
27 TP53 NM_000546.5(TP53):c.638G>A (p.Arg213Gln)SNV Pathogenic 135359 rs587778720 17:7578211-7578211 17:7674893-7674893
28 TP53 NM_000546.5(TP53):c.422G>A (p.Cys141Tyr)SNV Pathogenic 140801 rs587781288 17:7578508-7578508 17:7675190-7675190
29 TP53 NM_000546.5(TP53):c.844C>G (p.Arg282Gly)SNV Pathogenic 140821 rs28934574 17:7577094-7577094 17:7673776-7673776
30 TP53 NM_000546.5(TP53):c.842A>G (p.Asp281Gly)SNV Pathogenic 141141 rs587781525 17:7577096-7577096 17:7673778-7673778
31 MET NM_001127500.3(MET):c.3328G>A (p.Val1110Ile)SNV Pathogenic 186141 rs786202724 7:116417457-116417457 7:116777403-116777403
32 MTOR NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)SNV Pathogenic 190121 rs786205165 1:11217230-11217230 1:11157173-11157173
33 NRAS NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)SNV Pathogenic 280409 rs11554290 1:115256529-115256529 1:114713908-114713908
34 NRAS NM_002524.5(NRAS):c.183A>T (p.Gln61His)SNV Pathogenic 373003 rs121913255 1:115256528-115256528 1:114713907-114713907
35 VHL NM_001354723.2(VHL):c.*84_*90deldeletion Pathogenic 694389 3:10191534-10191540 3:10149850-10149856
36 MTOR NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)SNV Pathogenic/Likely pathogenic 374796 rs1057519914 1:11217231-11217231 1:11157174-11157174
37 NRAS NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)SNV Pathogenic/Likely pathogenic 375874 rs11554290 1:115256529-115256529 1:114713908-114713908
38 PIK3CA NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)SNV Pathogenic/Likely pathogenic,drug response 375896 rs104886003 3:178936091-178936091 3:179218303-179218303
39 PIK3CA NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)SNV Pathogenic/Likely pathogenic 217293 rs121913275 3:178936093-178936093 3:179218305-179218305
40 TP53 NM_000546.5(TP53):c.824G>A (p.Cys275Tyr)SNV Pathogenic/Likely pathogenic 215997 rs863224451 17:7577114-7577114 17:7673796-7673796
41 TP53 NM_000546.5(TP53):c.638G>C (p.Arg213Pro)SNV Pathogenic/Likely pathogenic 231214 rs587778720 17:7578211-7578211 17:7674893-7674893
42 TP53 NM_000546.5(TP53):c.527G>A (p.Cys176Tyr)SNV Pathogenic/Likely pathogenic 186451 rs786202962 17:7578403-7578403 17:7675085-7675085
43 MTOR NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)SNV Pathogenic/Likely pathogenic 156703 rs587777894 1:11184573-11184573 1:11124516-11124516
44 TP53 NM_000546.5(TP53):c.842A>T (p.Asp281Val)SNV Pathogenic/Likely pathogenic 182968 rs587781525 17:7577096-7577096 17:7673778-7673778
45 TP53 NM_000546.5(TP53):c.844C>T (p.Arg282Trp)SNV Pathogenic/Likely pathogenic 12364 rs28934574 17:7577094-7577094 17:7673776-7673776
46 ERBB2 NM_004448.3(ERBB2):c.2263_2264delinsCC (p.Leu755Pro)indel Pathogenic/Likely pathogenic 13877 rs121913469 17:37880219-37880220 17:39723966-39723967
47 PIK3CA NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)SNV Pathogenic/Likely pathogenic 31944 rs121913273 3:178936082-178936082 3:179218294-179218294
48 MET NM_001127500.3(MET):c.3736G>A (p.Asp1246Asn)SNV Pathogenic/Likely pathogenic 13884 rs121913671 7:116423407-116423407 7:116783353-116783353
49 MET NM_001127500.3(MET):c.3743A>G (p.Tyr1248Cys)SNV Pathogenic/Likely pathogenic 13885 rs121913246 7:116423414-116423414 7:116783360-116783360
50 PIK3CA NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)SNV Pathogenic/Likely pathogenic 13655 rs104886003 3:178936091-178936091 3:179218303-179218303

UniProtKB/Swiss-Prot genetic disease variations for Renal Cell Carcinoma, Papillary, 1:

73 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MET p.Met1131Thr VAR_006286 rs121913668
2 MET p.Val1188Leu VAR_006287 rs121913669
3 MET p.Leu1195Val VAR_006288 rs121913673
4 MET p.Val1220Ile VAR_006289 rs121913670
5 MET p.Asp1228Asn VAR_006290 rs121913671
6 MET p.Asp1228His VAR_006291 rs121913671
7 MET p.Tyr1230Cys VAR_006292 rs121913246
8 MET p.Tyr1230His VAR_006293 rs121913247
9 MET p.Met1250Thr VAR_006294 rs121913245
10 MET p.Val1092Ile VAR_032485 rs786202724
11 MET p.His1094Leu VAR_032486
12 MET p.His1094Arg VAR_032487 rs121913243
13 MET p.His1094Tyr VAR_032488 rs121913244
14 MET p.His1106Asp VAR_032489
15 MET p.Tyr1230Asp VAR_032491

Cosmic variations for Renal Cell Carcinoma, Papillary, 1:

9 (show top 50) (show all 1659)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87583829 ZNF462 kidney,NS,carcinoma,papillary renal cell carcinoma c.7085G>A p.R2362Q 9:107003322-107003322 9
2 COSM151995781 ZNF281 kidney,NS,carcinoma,papillary renal cell carcinoma c.2093C>T p.P698L 1:200407613-200407613 9
3 COSM85326448 ZNF225 kidney,NS,carcinoma,papillary renal cell carcinoma c.1187G>T p.G396V 19:44131801-44131801 9
4 COSM105902090 ZNF142 kidney,NS,carcinoma,papillary renal cell carcinoma c.3811G>T p.D1271Y 2:218642705-218642705 9
5 COSM149269629 ZFHX3 kidney,NS,carcinoma,papillary renal cell carcinoma c.2590T>C p.Y864H 16:72957556-72957556 9
6 COSM89411866 ZBTB2 kidney,NS,carcinoma,papillary renal cell carcinoma c.931G>A p.E311K 6:151366135-151366135 9
7 COSM87436198 XPO4 kidney,NS,carcinoma,papillary renal cell carcinoma c.1299C>A p.F433L 13:20809842-20809842 9
8 COSM101982001 XPO1 kidney,NS,carcinoma,papillary renal cell carcinoma c.259A>G p.I87V 2:61522653-61522653 9
9 COSM136040220 XKR7 kidney,NS,carcinoma,papillary renal cell carcinoma c.1409C>T p.T470M 20:31997126-31997126 9
10 COSM94289415 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 9
11 COSM101580971 WDR89 kidney,NS,carcinoma,papillary renal cell carcinoma c.260C>A p.S87* 14:63599683-63599683 9
12 COSM88295075 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.556G>T p.E186* 3:10149879-10149879 9
13 COSM88289113 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 9
14 COSM88304452 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.443T>C p.F148S 3:10146616-10146616 9
15 COSM88294223 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.499C>T p.R167W 3:10149822-10149822 9
16 COSM88297043 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 9
17 COSM88292918 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 9
18 COSM88288959 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 9
19 COSM88292107 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 9
20 COSM88293667 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 9
21 COSM88290223 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.341G>C p.G114A 3:10146514-10146514 9
22 COSM88289297 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 9
23 COSM88290436 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 9
24 COSM88292022 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 9
25 COSM88294468 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.473T>G p.L158R 3:10149796-10149796 9
26 COSM88289282 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 9
27 COSM88291948 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 9
28 COSM88291649 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.263G>A p.W88* 3:10142110-10142110 9
29 COSM88307712 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.523T>G p.Y175D 3:10149846-10149846 9
30 COSM88294445 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.264G>C p.W88C 3:10142111-10142111 9
31 COSM88304413 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 9
32 COSM116252634 VAPB kidney,NS,carcinoma,papillary renal cell carcinoma c.149G>A p.R50H 20:58418301-58418301 9
33 COSM86257077 USP24 kidney,NS,carcinoma,papillary renal cell carcinoma c.6116A>G p.Y2039C 1:55095342-55095342 9
34 COSM102137830 UROC1 kidney,NS,carcinoma,papillary renal cell carcinoma c.401A>G p.N134S 3:126508426-126508426 9
35 COSM85360217 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176= 3:124737785-124737785 9
36 COSM98469847 UBR4 kidney,NS,carcinoma,papillary renal cell carcinoma c.8588C>T p.A2863V 1:19140793-19140793 9
37 COSM105577637 TXNRD2 kidney,NS,carcinoma,papillary renal cell carcinoma c.1017G>T p.Q339H 22:19883394-19883394 9
38 COSM140463106 TTN kidney,NS,carcinoma,papillary renal cell carcinoma c.61042G>T p.E20348* 2:178590683-178590683 9
39 COSM87037342 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 9
40 COSM87037337 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1636G>T p.E546* 16:2065555-2065555 9
41 COSM87037202 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 9
42 COSM87030528 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3412C>T p.R1138* 16:2080179-2080179 9
43 COSM87047996 TSC2 kidney,NS,carcinoma,papillary renal cell carcinoma c.512G>C p.G171A 16:2055432-2055432 9
44 COSM87037219 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1717-1G>C p.? 16:2070455-2070455 9
45 COSM87037265 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.774+1G>A p.? 16:2056770-2056770 9
46 COSM87049432 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 9
47 COSM87037238 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 9
48 COSM87037320 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.731G>T p.C244F 16:2056726-2056726 9
49 COSM87036869 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1119+1G>T p.? 16:2060814-2060814 9
50 COSM87037346 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.975+1G>T p.? 16:2058874-2058874 9

Expression for Renal Cell Carcinoma, Papillary, 1

Search GEO for disease gene expression data for Renal Cell Carcinoma, Papillary, 1.

Pathways for Renal Cell Carcinoma, Papillary, 1

Pathways related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.15 VHL TP53 PTEN PIK3CA NRAS MTOR
2
Show member pathways
13.95 VHL TP53 RHEB PTEN NRAS MTOR
3
Show member pathways
13.83 PIK3CA NRAS MTOR MET HRAS FGFR3
4
Show member pathways
13.67 TP53 PIK3CA NRAS MTOR MET HRAS
5
Show member pathways
13.65 NRAS MTOR MET HRAS FGFR3 ERBB2
6
Show member pathways
13.6 PIK3CA NRAS MET HRAS FGFR3 ERBB2
7
Show member pathways
13.59 VHL TP53 PTEN PIK3CA NRAS MTOR
8
Show member pathways
13.52 TP53 PTEN NRAS MTOR MET HRAS
9
Show member pathways
13.47 TP53 PIK3CA NRAS MET HRAS FGFR3
10
Show member pathways
13.4 PTEN NRAS MET HRAS FGFR3 ERBB2
11
Show member pathways
13.38 NRAS MET HRAS FGFR3 ERBB2 CTNNB1
12
Show member pathways
13.32 TP53 PTEN NRAS MTOR HRAS ERBB2
13
Show member pathways
13.23 TP53 PTEN PIK3CA MTOR MET FGFR3
14
Show member pathways
13.21 TP53 PIK3CA NRAS HRAS CTNNB1 BRAF
15
Show member pathways
13.21 TP53 PTEN NRAS MTOR MET HRAS
16
Show member pathways
13.15 RHEB NRAS MTOR MET HRAS FGFR3
17
Show member pathways
13.1 TP53 NRAS MET HRAS CTNNB1 BRAF
18
Show member pathways
13.1 TP53 RHEB PTEN MTOR MSH2 ELOC
19
Show member pathways
13.1 TP53 RHEB PTEN PIK3CA NRAS MTOR
20
Show member pathways
13.09 TP53 RHEB PIK3CA NRAS MTOR HRAS
21
Show member pathways
13.09 TP53 RHEB PTEN PIK3CA NRAS MTOR
22
Show member pathways
13.07 RHEB PTEN PIK3CA NRAS MTOR MET
23
Show member pathways
13.05 PTEN PIK3CA NRAS MET HRAS ERBB2
24
Show member pathways
13.02 PTEN PIK3CA NRAS MTOR HRAS FGFR3
25
Show member pathways
13.01 TP53 RHEB PTEN PIK3CA NRAS MTOR
26
Show member pathways
12.94 PIK3CA NRAS MET HRAS BRAF
27 12.92 TP53 NRAS MET HRAS FGFR3 ERBB2
28
Show member pathways
12.9 TP53 PIK3CA NRAS HRAS ATM
29
Show member pathways
12.9 TP53 PTEN PIK3CA NRAS MTOR MET
30
Show member pathways
12.9 TP53 PTEN PIK3CA NRAS MTOR MET
31
Show member pathways
12.89 NRAS MTOR HRAS CTNNB1 BRAF
32
Show member pathways
12.89 PIK3CA NRAS MET HRAS FGFR3 CTNNB1
33
Show member pathways
12.87 PTEN PIK3CA MTOR HRAS BRAF
34
Show member pathways
12.84 TP53 PTEN PIK3CA NRAS NFE2L2 MTOR
35
Show member pathways
12.79 RHEB PIK3CA NRAS MTOR HRAS CTNNB1
36
Show member pathways
12.76 TP53 PIK3CA NRAS MSH2 HRAS ERBB2
37 12.74 PIK3CA NRAS HRAS FGFR3 BRAF
38
Show member pathways
12.71 PTEN PIK3CA NRAS MTOR HRAS
39
Show member pathways
12.7 TP53 PIK3CA NRAS MTOR HRAS ERBB2
40
Show member pathways
12.7 TP53 PTEN PIK3CA NRAS MTOR MITF
41
Show member pathways
12.68 PIK3CA NRAS HRAS FGFR3 BRAF
42 12.65 TP53 PTEN PIK3CA NRAS MTOR MET
43
Show member pathways
12.64 RHEB PTEN PIK3CA MTOR HRAS
44
Show member pathways
12.64 PTEN PIK3CA NRAS MTOR HRAS ERBB2
45
Show member pathways
12.61 PIK3CA NRAS MTOR MET HRAS
46
Show member pathways
12.58 TP53 RHEB PTEN PIK3CA MTOR MET
47
Show member pathways
12.58 PIK3CA NRAS MTOR MET HRAS FGFR3
48
Show member pathways
12.56 TP53 RHEB PIK3CA MTOR HRAS
49
Show member pathways
12.55 NRAS MTOR MITF HRAS BRAF
50
Show member pathways
12.54 PTEN PIK3CA NRAS HRAS BRAF

GO Terms for Renal Cell Carcinoma, Papillary, 1

Cellular components related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.83 VHL TP53 PTEN PRCC NFE2L2 MTOR
2 nucleoplasm GO:0005654 9.44 VHL TP53 SDHB PTEN PRCC NFE2L2

Biological processes related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 TP53 NFE2L2 MITF MET HRAS CTNNB1
2 negative regulation of cell proliferation GO:0008285 10.04 VHL TP53 PTEN HRAS CTNNB1
3 negative regulation of apoptotic process GO:0043066 10.01 VHL TP53 PTEN MITF CTNNB1 BRAF
4 phosphorylation GO:0016310 9.98 PIK3CA MTOR MET FGFR3 ERBB2 BRAF
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.95 PTEN HRAS FGFR3 BRAF
6 regulation of cell proliferation GO:0042127 9.92 TP53 MITF CTNNB1 BRAF
7 protein phosphorylation GO:0006468 9.91 PIK3CA MTOR MET FGFR3 ERBB2 BRAF
8 protein autophosphorylation GO:0046777 9.88 MTOR FGFR3 ERBB2 ATM
9 negative regulation of neuron apoptotic process GO:0043524 9.87 PIK3CA MSH2 HRAS BRAF
10 peptidyl-tyrosine phosphorylation GO:0018108 9.86 MET FGFR3 ERBB2 BRAF
11 cellular response to hypoxia GO:0071456 9.85 TP53 PTEN NFE2L2 MTOR
12 heart development GO:0007507 9.85 TP53 PTEN ERBB2 CTNNB1 ATM
13 Ras protein signal transduction GO:0007265 9.83 TP53 NRAS HRAS
14 cellular response to drug GO:0035690 9.82 TP53 NFE2L2 BRAF
15 positive regulation of MAPK cascade GO:0043410 9.8 HRAS FGFR3 ERBB2 CTNNB1
16 positive regulation of neuron apoptotic process GO:0043525 9.77 TP53 CTNNB1 ATM
17 thymus development GO:0048538 9.75 CTNNB1 BRAF ATM
18 positive regulation of protein kinase B signaling GO:0051897 9.72 PIK3CA MTOR MET FGFR3 ERBB2
19 cellular response to gamma radiation GO:0071480 9.69 TP53 HRAS ATM
20 anoikis GO:0043276 9.66 PIK3CA MTOR
21 response to UV-B GO:0010224 9.66 TP53 MSH2
22 negative regulation of cell size GO:0045792 9.65 PTEN MTOR
23 cell aging GO:0007569 9.65 TP53 MTOR HRAS
24 regulation of axon regeneration GO:0048679 9.63 PTEN BRAF
25 entry of bacterium into host cell GO:0035635 9.63 MET CTNNB1
26 MAPK cascade GO:0000165 9.63 NRAS MET HRAS FGFR3 ERBB2 BRAF
27 positive regulation of DNA-templated transcription, initiation GO:2000144 9.61 MITF CTNNB1
28 positive regulation of transcription from RNA polymerase II promoter in response to stress GO:0036003 9.61 TP53 NFE2L2
29 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.59 TP53 NFE2L2
30 determination of adult lifespan GO:0008340 9.58 TP53 MSH2 ATM
31 canonical Wnt signaling pathway involved in negative regulation of apoptotic process GO:0044336 9.52 MITF CTNNB1
32 regulation of osteoclast differentiation GO:0045670 9.43 MTOR MITF CTNNB1
33 cell cycle arrest GO:0007050 9.43 TP53 RHEB MTOR MSH2 HRAS ATM
34 positive regulation of gene expression GO:0010628 9.32 TP53 PTEN NFE2L2 MTOR MITF HRAS

Molecular functions related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.08 TP53 PTEN MTOR MET FGFR3 ERBB2
2 ATP binding GO:0005524 10.02 TP53 PIK3CA MTOR MSH2 MET FGFR3
3 protein binding GO:0005515 9.96 VHL TP53 SDHB RHEB PTEN PRCC
4 protein kinase activity GO:0004672 9.93 MTOR MET FGFR3 ERBB2 BRAF ATM
5 enzyme binding GO:0019899 9.88 VHL TP53 PTEN MSH2 CTNNB1
6 protein kinase binding GO:0019901 9.88 TP53 RHEB PTEN MTOR MSH2 CTNNB1
7 kinase activity GO:0016301 9.8 PIK3CA MTOR MET FGFR3 ERBB2 BRAF
8 protein tyrosine kinase activity GO:0004713 9.73 MET FGFR3 ERBB2 BRAF
9 GDP binding GO:0019003 9.72 RHEB NRAS HRAS
10 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.69 MET FGFR3 ERBB2
11 RNA polymerase II activating transcription factor binding GO:0001102 9.67 TP53 NFE2L2 CTNNB1
12 protein phosphatase binding GO:0019903 9.62 TP53 MET ERBB2 CTNNB1
13 1-phosphatidylinositol-3-kinase activity GO:0016303 9.56 PIK3CA ATM
14 protein C-terminus binding GO:0008022 9.55 TP53 MSH2 HRAS ERBB2 CTNNB1
15 transcription cofactor binding GO:0001221 9.52 TP53 NFE2L2
16 nucleotide binding GO:0000166 9.28 RHEB NRAS MTOR MET HRAS FGFR3

Sources for Renal Cell Carcinoma, Papillary, 1

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
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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