PedAM

Pediatric Disease Annotations & Medicines


	chromophobe renal cell carcinoma

Disease ID	969
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	ORPHANET:319303
DOID	DOID:4471
UMLS	C1266042
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0029463 \| osteosarcoma \| 3 C0023827 \| liposarcoma \| 1 C0022661 \| end-stage renal disease \| 1 C0007134 \| renal cell carcinoma \| 1 C0022658 \| renal disease \| 1 C0008325 \| cholecystitis \| 1 C1266043 \| sarcomatoid renal cell carcinoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) HNF1B \| 6928 \| CLINVAR HNF1A \| 6927 \| CLINVAR FLCN \| 201163 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:96) 100302650 \| BRE-AS1 \| DISEASES 1015 \| CDH17 \| DISEASES 5816 \| PVALB \| DISEASES 6928 \| HNF1B \| DISEASES 3732 \| CD82 \| DISEASES 595 \| CCND1 \| DISEASES 7942 \| TFEB \| DISEASES 9143 \| SYNGR3 \| DISEASES 10053 \| AP1M2 \| DISEASES 9476 \| NAPSA \| DISEASES 84925 \| DIRC2 \| DISEASES 999 \| CDH1 \| DISEASES 5159 \| PDGFRB \| DISEASES 4072 \| EPCAM \| DISEASES 57600 \| FNIP2 \| DISEASES 6389 \| SDHA \| DISEASES 56302 \| TRPV5 \| DISEASES 38 \| ACAT1 \| DISEASES 51458 \| RHCG \| DISEASES 4355 \| MPP2 \| DISEASES 1000 \| CDH2 \| DISEASES 7157 \| TP53 \| DISEASES 5546 \| PRCC \| DISEASES 49860 \| CRNN \| DISEASES 84651 \| SPINK7 \| DISEASES 127124 \| ATP6V1G3 \| DISEASES 201163 \| FLCN \| DISEASES 760 \| CA2 \| DISEASES 9073 \| CLDN8 \| DISEASES 3815 \| KIT \| DISEASES 486 \| FXYD2 \| DISEASES 6271 \| S100A1 \| DISEASES 3856 \| KRT8 \| DISEASES 6006 \| RHCE \| DISEASES 10630 \| PDPN \| DISEASES 6051 \| RNPEP \| DISEASES 2168 \| FABP1 \| DISEASES 4486 \| MST1R \| DISEASES 1014 \| CDH16 \| DISEASES 22974 \| TPX2 \| DISEASES 79058 \| ASPSCR1 \| DISEASES 6203 \| RPS9 \| DISEASES 7364 \| UGT2B7 \| DISEASES 26287 \| ANKRD2 \| DISEASES 7369 \| UMOD \| DISEASES 7015 \| TERT \| DISEASES 7030 \| TFE3 \| DISEASES 4233 \| MET \| DISEASES 150696 \| PROM2 \| DISEASES 5652 \| PRSS8 \| DISEASES 363 \| AQP6 \| DISEASES 3855 \| KRT7 \| DISEASES 277 \| AMY1B \| DISEASES 857 \| CAV1 \| DISEASES 7080 \| NKX2-1 \| DISEASES 55107 \| ANO1 \| DISEASES 55503 \| TRPV6 \| DISEASES 126014 \| OSCAR \| DISEASES 1999 \| ELF3 \| DISEASES 1366 \| CLDN7 \| DISEASES 4311 \| MME \| DISEASES 57111 \| RAB25 \| DISEASES 4512 \| MT-CO1 \| DISEASES 2475 \| MTOR \| DISEASES 79577 \| CDC73 \| DISEASES 27246 \| RNF115 \| DISEASES 278 \| AMY1C \| DISEASES 276 \| AMY1A \| DISEASES 4102 \| MAGEA3 \| DISEASES 6005 \| RHAG \| DISEASES 7809 \| BSND \| DISEASES 2516 \| NR5A1 \| DISEASES 5698 \| PSMB9 \| DISEASES 1740 \| DLG2 \| DISEASES 768 \| CA9 \| DISEASES 2315 \| MLANA \| DISEASES 29126 \| CD274 \| DISEASES 169792 \| GLIS3 \| DISEASES 23600 \| AMACR \| DISEASES 3875 \| KRT18 \| DISEASES 8502 \| PKP4 \| DISEASES 6439 \| SFTPB \| DISEASES 79838 \| TMC5 \| DISEASES 80380 \| PDCD1LG2 \| DISEASES 2116 \| ETV2 \| DISEASES 7849 \| PAX8 \| DISEASES 5076 \| PAX2 \| DISEASES 29970 \| SCHIP1 \| DISEASES 54845 \| ESRP1 \| DISEASES 7019 \| TFAM \| DISEASES 96459 \| FNIP1 \| DISEASES 4065 \| LY75 \| DISEASES 401253 \| LINC00336 \| DISEASES 100302640 \| LINC00882 \| DISEASES 84973 \| SNHG7 \| DISEASES 200197 \| TMEM51-AS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	969
Disease	chromophobe renal cell carcinoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0002669 \| Osteosarcoma \| 3 HP:0030731 \| Carcinoma \| 1 HP:0001880 \| Eosinophilia \| 1 HP:0001082 \| Cholecystitis \| 1 HP:0005584 \| Renal cell carcinoma \| 1 HP:0012034 \| Liposarcoma \| 1 HP:0003774 \| End-stage renal failure \| 1

Disease ID	969
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.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137853247	NA	6927	HNF1A	umls:C1266042	CLINVAR	NA	0.12	NA	HNF1A	12	120978860	G	A,C
rs587776771	NA	6928	HNF1B	umls:C1266042	CLINVAR	NA	0.120271442	NA	HNF1B	17	37744839	G	-

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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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