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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   chromophobe renal cell carcinoma
  

Disease ID 1661
Disease chromophobe renal cell carcinoma
Definition
A type of carcinoma that comprises a minority of renal cell carcinomas. It is characterized by loss of chromosomes 1 and Y. Based on the cytoplasmic characteristics of the neoplastic cells, this type of carcinoma is classified as classic (typical) or eosinophilic. It has a much better prognosis than other renal cell carcinomas.
Synonym
chromophobe adenocarcinoma
chromophobe carcinoma
chromophobe carcinoma of kidney
chromophobe carcinoma of the kidney
chromophobe cell carcinoma of kidney
chromophobe cell carcinoma of the kidney
chromophobe cell renal carcinoma
renal cell carcinoma, chromophobe
renal cell carcinoma, chromophobe cell
renal cell carcinoma, chromophobe cell (morphologic abnormality)
renal cell carcinoma, chromophobe type
Orphanet
DOID
UMLS
C1266042
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:7)
C0029463  |  osteosarcoma  |  3
C1266043  |  sarcomatoid renal cell carcinoma  |  1
C0008325  |  cholecystitis  |  1
C0022661  |  end-stage renal disease  |  1
C0023827  |  liposarcoma  |  1
C0007134  |  renal cell carcinoma  |  1
C0022658  |  renal disease  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
201163  |  FLCN  |  CLINVAR
6928  |  HNF1B  |  CLINVAR
6927  |  HNF1A  |  CLINVAR
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:46)
23600  |  AMACR  |  3.417  |  DISEASES
276  |  AMY1A  |  2.08  |  DISEASES
277  |  AMY1B  |  2.08  |  DISEASES
278  |  AMY1C  |  2.08  |  DISEASES
55107  |  ANO1  |  1.243  |  DISEASES
100302650  |  BRE-AS1  |  4.397  |  DISEASES
7809  |  BSND  |  2.864  |  DISEASES
768  |  CA9  |  3.522  |  DISEASES
857  |  CAV1  |  2.24  |  DISEASES
29126  |  CD274  |  1.727  |  DISEASES
79577  |  CDC73  |  1.971  |  DISEASES
1366  |  CLDN7  |  4.404  |  DISEASES
1740  |  DLG2  |  2.174  |  DISEASES
1999  |  ELF3  |  1.804  |  DISEASES
54845  |  ESRP1  |  2.267  |  DISEASES
2116  |  ETV2  |  3.035  |  DISEASES
96459  |  FNIP1  |  2.672  |  DISEASES
169792  |  GLIS3  |  1.849  |  DISEASES
3875  |  KRT18  |  2.446  |  DISEASES
3855  |  KRT7  |  5.163  |  DISEASES
401253  |  LINC00336  |  4.397  |  DISEASES
100302640  |  LINC00882  |  4  |  DISEASES
4065  |  LY75  |  1.692  |  DISEASES
4102  |  MAGEA3  |  1.014  |  DISEASES
2315  |  MLANA  |  1.947  |  DISEASES
4311  |  MME  |  3.843  |  DISEASES
4512  |  MT-CO1  |  1.096  |  DISEASES
2475  |  MTOR  |  1.881  |  DISEASES
7080  |  NKX2-1  |  1.598  |  DISEASES
2516  |  NR5A1  |  1.159  |  DISEASES
126014  |  OSCAR  |  1.692  |  DISEASES
5076  |  PAX2  |  2.419  |  DISEASES
7849  |  PAX8  |  2.914  |  DISEASES
80380  |  PDCD1LG2  |  1.239  |  DISEASES
8502  |  PKP4  |  2.733  |  DISEASES
5698  |  PSMB9  |  1.32  |  DISEASES
57111  |  RAB25  |  2.129  |  DISEASES
6005  |  RHAG  |  1.313  |  DISEASES
27246  |  RNF115  |  2.699  |  DISEASES
29970  |  SCHIP1  |  3.077  |  DISEASES
6439  |  SFTPB  |  1.259  |  DISEASES
84973  |  SNHG7  |  4.095  |  DISEASES
7019  |  TFAM  |  1.083  |  DISEASES
79838  |  TMC5  |  3.611  |  DISEASES
200197  |  TMEM51-AS1  |  4.397  |  DISEASES
55503  |  TRPV6  |  1.524  |  DISEASES
Locus(Waiting for update.)
Disease ID 1661
Disease chromophobe renal cell carcinoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:8)
HP:0002669  |  Osteosarcoma  |  3
HP:0002664  |  Neoplasia  |  1
HP:0003774  |  End-stage renal failure  |  1
HP:0012034  |  Liposarcoma  |  1
HP:0001082  |  Cholecystitis  |  1
HP:0030731  |  Carcinoma  |  1
HP:0005584  |  Renal cell carcinoma  |  1
HP:0001880  |  Eosinophilia  |  1
Disease ID 1661
Disease chromophobe renal cell carcinoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0494165  |  liver metastasis
C0333516  |  tumour necrosis
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs137853247NA6927HNF1Aumls:C1266042CLINVARNA0.12NAHNF1A12120978860GA,C
rs587776771NA6928HNF1Bumls:C1266042CLINVARNA0.120271442NAHNF1B1737744839G-
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1661
Disease chromophobe renal cell carcinoma
Case(Waiting for update.)