eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	chromophil renal cell carcinoma

Disease ID	1751
Disease	chromophil renal cell carcinoma
Definition	The presence of renal cell carcinoma in the renal papilla. [HPO:probinson]
Synonym	chromophil carcinoma of kidney chromophil carcinoma of the kidney papillary (chromophil) renal cell carcinoma papillary renal cell carcinoma
Orphanet	ORPHANET:319298
DOID	DOID:4465
UMLS	C1306837
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0019562 \| hippel-lindau disease \| 3 C0019562 \| von hippel-lindau disease \| 3 C0019562 \| lindau disease \| 3 C0279702 \| clear cell renal cell carcinoma \| 2 C0007134 \| renal cell carcinoma \| 2 C0442874 \| neuropathy \| 2 C0033117 \| priapism \| 1 C0029132 \| optic neuropathy \| 1 C0018552 \| hamartoma \| 1 C0023801 \| lipomatosis \| 1 C0017525 \| giant cell tumors \| 1 C0270922 \| demyelinating neuropathy \| 1 C0017525 \| giant cell tumor \| 1 C0020538 \| high blood pressure \| 1 C0019562 \| von hippel-lindau syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4286 \| MITF \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:52) 238 \| ALK \| 1.7 \| DISEASES 23600 \| AMACR \| 6.064 \| DISEASES 196528 \| ARID2 \| 1.72 \| DISEASES 25805 \| BAMBI \| 1.725 \| DISEASES 682 \| BSG \| 1.18 \| DISEASES 768 \| CA9 \| 5.104 \| DISEASES 29126 \| CD274 \| 1.548 \| DISEASES 79577 \| CDC73 \| 2.824 \| DISEASES 1366 \| CLDN7 \| 2.067 \| DISEASES 387836 \| CLEC2A \| 1.976 \| DISEASES 1368 \| CPM \| 1.94 \| DISEASES 4921 \| DDR2 \| 2.189 \| DISEASES 1936 \| EEF1D \| 2.318 \| DISEASES 1999 \| ELF3 \| 1.382 \| DISEASES 494188 \| FBXO47 \| 3.772 \| DISEASES 2271 \| FH \| 5.08 \| DISEASES 96459 \| FNIP1 \| 2.25 \| DISEASES 2526 \| FUT4 \| 1.003 \| DISEASES 350383 \| GPR142 \| 2.61 \| DISEASES 26762 \| HAVCR1 \| 1.508 \| DISEASES 3091 \| HIF1A \| 1.5 \| DISEASES 3875 \| KRT18 \| 1.495 \| DISEASES 3880 \| KRT19 \| 1.941 \| DISEASES 3855 \| KRT7 \| 5.808 \| DISEASES 116372 \| LYPD1 \| 3.017 \| DISEASES 4311 \| MME \| 4.844 \| DISEASES 4582 \| MUC1 \| 1.846 \| DISEASES 4588 \| MUC6 \| 1.459 \| DISEASES 4609 \| MYC \| 1.301 \| DISEASES 283131 \| NEAT1 \| 1.433 \| DISEASES 4780 \| NFE2L2 \| 1.059 \| DISEASES 126014 \| OSCAR \| 2.787 \| DISEASES 5076 \| PAX2 \| 2.44 \| DISEASES 7849 \| PAX8 \| 3.814 \| DISEASES 55193 \| PBRM1 \| 1.302 \| DISEASES 27328 \| PCDH11X \| 1.9 \| DISEASES 5133 \| PDCD1 \| 2.503 \| DISEASES 728378 \| POTEF \| 1.139 \| DISEASES 5728 \| PTEN \| 2.208 \| DISEASES 5861 \| RAB1A \| 1.745 \| DISEASES 326624 \| RAB37 \| 2.62 \| DISEASES 11186 \| RASSF1 \| 1.65 \| DISEASES 5979 \| RET \| 1.307 \| DISEASES 29970 \| SCHIP1 \| 3.612 \| DISEASES 29072 \| SETD2 \| 1.719 \| DISEASES 6513 \| SLC2A1 \| 2.383 \| DISEASES 10568 \| SLC34A2 \| 1.637 \| DISEASES 4943 \| TBC1D25 \| 2.755 \| DISEASES 7155 \| TOP2B \| 1.006 \| DISEASES 7422 \| VEGFA \| 1.487 \| DISEASES 7490 \| WT1 \| 2.839 \| DISEASES 7694 \| ZNF135 \| 1.629 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1751
Disease	chromophil renal cell carcinoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0030731 \| Carcinoma \| 5 HP:0002664 \| Neoplasia \| 3 HP:0006770 \| Nonpapillary renal cell carcinoma \| 2 HP:0005584 \| Renal cell carcinoma \| 2 HP:0200023 \| Priapism \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0010566 \| Hamartoma \| 1

Disease ID	1751
Disease	chromophil renal cell carcinoma
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C1626206 \| paraneoplastic optic neuropathy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	22727996	673	BRAF	umls:C1306837	BeFree	We detected a BRAF mutation (V600E) in only one papillary renal cell carcinoma case.	0.000271442	2012	BRAF	7	140753336	A	T,G,C

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	1751
Disease	chromophil renal cell carcinoma
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter