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	clear cell renal carcinoma

Disease ID	449
Disease	clear cell renal carcinoma
Definition	The most common type of kidney cancer. It begins in the lining of the renal tubules in the kidney. The renal tubules filter the blood and produce urine.
Synonym	carcinoma cell clear kidney carcinoma, clear cell, renal carcinoma, hypernephroid carcinomas, hypernephroid clear cell adenocarcinoma of kidney clear cell adenocarcinoma of the kidney clear cell adenocarcinoma, kidney clear cell carcinoma of kidney clear cell carcinoma of kidney (disorder) clear cell carcinoma of the kidney clear cell renal cell carcinoma conventional (clear cell) renal cell adenocarcinoma conventional (clear cell) renal cell carcinoma conventional renal cell carcinoma grawitz tumour hypernephroid carcinoma hypernephroma (disorder) hypernephromas kidney cancer, clear cell carcinoma kidney clear cell adenocarcinoma kidney clear cell carcinoma nonpapillary renal cell carcinoma rcc, clear cell adenocarcinoma renal cell carcinoma, clear cell renal cell carcinoma, clear cell adenocarcinoma renal cell carcinoma, nonpapillary renal clear cell adenocarcinoma renal clear cell carcinoma tumor, grawitz
Orphanet	ORPHANET:319276
OMIM	OMIM:144700
DOID	DOID:4467 DOID:4450 DOID:0050387
UMLS	C0279702
SNOMED-CT	SNOMEDCT_US_2016_09_01:254915003;SNOMEDCT_US_2016_09_01:188251003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:19) C0279702 \| clear cell carcinoma of the kidney \| 7 C0206681 \| clear cell carcinoma \| 7 C0007134 \| renal cell carcinoma \| 4 C0206734 \| hemangioblastoma \| 2 C1306837 \| papillary renal cell carcinoma \| 2 C0023267 \| leiomyoma \| 1 C0346976 \| pancreatic metastasis \| 1 C0008325 \| cholecystitis \| 1 C0220650 \| brain metastasis \| 1 C0011849 \| diabetes mellitus \| 1 C0751690 \| malignant peripheral nerve sheath tumor \| 1 C0153676 \| pulmonary metastases \| 1 C0020437 \| hypercalcemia \| 1 C0040053 \| thrombus \| 1 C0007133 \| papillary carcinoma \| 1 C0036202 \| sarcoidosis \| 1 C0686619 \| lymph node metastases \| 1 C0267841 \| acalculous cholecystitis \| 1 C0346010 \| birt-hogg-dube syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:8) 11236 \| RNF139 \| ORPHANET 79663 \| HSPBAP1 \| ORPHANET 201163 \| FLCN \| UNIPROT 4968 \| OGG1 \| CLINVAR 6927 \| HNF1A \| CLINVAR 7428 \| VHL \| UNIPROT 729582 \| DIRC3 \| ORPHANET 2272 \| FHIT \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 4524 \| MTHFR \| CIPHER 4312 \| MMP1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:78) 154796 \| AMOT \| 2.306 \| DISEASES 284 \| ANGPT1 \| 1.559 \| DISEASES 51378 \| ANGPT4 \| 2.384 \| DISEASES 307 \| ANXA4 \| 1.746 \| DISEASES 196528 \| ARID2 \| 2.082 \| DISEASES 768 \| CA9 \| 3.677 \| DISEASES 960 \| CD44 \| 1.785 \| DISEASES 157313 \| CDCA2 \| 1.268 \| DISEASES 9350 \| CER1 \| 4.155 \| DISEASES 2017 \| CTTN \| 2.028 \| DISEASES 8029 \| CUBN \| 1.304 \| DISEASES 8453 \| CUL2 \| 3.62 \| DISEASES 9547 \| CXCL14 \| 1.223 \| DISEASES 780 \| DDR1 \| 1.514 \| DISEASES 54583 \| EGLN1 \| 2.701 \| DISEASES 1994 \| ELAVL1 \| 1.861 \| DISEASES 2036 \| EPB41L1 \| 2.586 \| DISEASES 23136 \| EPB41L3 \| 2.676 \| DISEASES 11082 \| ESM1 \| 1.527 \| DISEASES 2107 \| ETF1 \| 2.808 \| DISEASES 2272 \| FHIT \| 3.103 \| DISEASES 2272 \| FHIT \| 2.83 \| DISEASES 6624 \| FSCN1 \| 1.734 \| DISEASES 60674 \| GAS5 \| 1.838 \| DISEASES 2621 \| GAS6 \| 1.192 \| DISEASES 2628 \| GATM \| 1.396 \| DISEASES 2934 \| GSN \| 1.632 \| DISEASES 51512 \| GTSE1 \| 2.398 \| DISEASES 3091 \| HIF1A \| 2.907 \| DISEASES 11004 \| KIF2C \| 1.941 \| DISEASES 24137 \| KIF4A \| 2.471 \| DISEASES 3855 \| KRT7 \| 3.29 \| DISEASES 3927 \| LASP1 \| 1.869 \| DISEASES 440738 \| MAP1LC3C \| 1.559 \| DISEASES 4215 \| MAP3K3 \| 2.212 \| DISEASES 4193 \| MDM2 \| 1.662 \| DISEASES 4208 \| MEF2C \| 1.198 \| DISEASES 2315 \| MLANA \| 1.798 \| DISEASES 4311 \| MME \| 2.879 \| DISEASES 10232 \| MSLN \| 1.792 \| DISEASES 2475 \| MTOR \| 1.14 \| DISEASES 4582 \| MUC1 \| 1.603 \| DISEASES 4609 \| MYC \| 1.574 \| DISEASES 4824 \| NKX3-1 \| 1.201 \| DISEASES 344022 \| NOTO \| 1.923 \| DISEASES 283208 \| P4HA3 \| 3.335 \| DISEASES 64098 \| PARVG \| 3.238 \| DISEASES 7849 \| PAX8 \| 1.481 \| DISEASES 55193 \| PBRM1 \| 3.152 \| DISEASES 104472713 \| PCAT29 \| 3.226 \| DISEASES 9141 \| PDCD5 \| 2.916 \| DISEASES 5138 \| PDE2A \| 2.401 \| DISEASES 5223 \| PGAM1 \| 1.986 \| DISEASES 23532 \| PRAME \| 1.283 \| DISEASES 5820 \| PVT1 \| 1.616 \| DISEASES 25950 \| RWDD3 \| 3.084 \| DISEASES 6390 \| SDHB \| 1.565 \| DISEASES 6391 \| SDHC \| 1.739 \| DISEASES 6392 \| SDHD \| 1.629 \| DISEASES 57556 \| SEMA6A \| 2.066 \| DISEASES 29072 \| SETD2 \| 2.641 \| DISEASES 6446 \| SGK1 \| 1.02 \| DISEASES 79628 \| SH3TC2 \| 2.082 \| DISEASES 81858 \| SHARPIN \| 2.753 \| DISEASES 6572 \| SLC18A3 \| 1.328 \| DISEASES 6513 \| SLC2A1 \| 1.607 \| DISEASES 6622 \| SNCA \| 1.875 \| DISEASES 6676 \| SPAG4 \| 3.435 \| DISEASES 6714 \| SRC \| 1.104 \| DISEASES 7010 \| TEK \| 1.39 \| DISEASES 57393 \| TMEM27 \| 2.345 \| DISEASES 10587 \| TXNRD2 \| 1.306 \| DISEASES 7316 \| UBC \| 1.142 \| DISEASES 29914 \| UBIAD1 \| 2.132 \| DISEASES 7409 \| VAV1 \| 1.134 \| DISEASES 7422 \| VEGFA \| 2.316 \| DISEASES 79679 \| VTCN1 \| 1.395 \| DISEASES 6940 \| ZNF354A \| 3.027 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) TMEM127 \| 2q11.2

Disease ID	449
Disease	clear cell renal carcinoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0005584 \| Renal cell carcinoma
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0002664 \| Neoplasia \| 14 HP:0030731 \| Carcinoma \| 6 HP:0005584 \| Renal cell carcinoma \| 4 HP:0006766 \| Papillary renal cell carcinoma \| 2 HP:0010797 \| Hemangioblastoma \| 2 HP:0001901 \| Abnormally shaped erythrocytes \| 1 HP:0001082 \| Cholecystitis \| 1 HP:0100697 \| Neurofibrosarcoma \| 1 HP:0100570 \| Carcinoid tumor \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0002902 \| Hyponatremia \| 1

Disease ID	449
Disease	clear cell renal carcinoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0153685 \| renal metastasis
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:17)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893751	NA	4968	OGG1	umls:C0279702	CLINVAR	NA	0.120814326	NA	OGG1	3	9750423	G	A
rs104893829	23990666	7428	VHL	umls:C0279702	BeFree	The risk relevance of the P81S von Hippel-Lindau (VHL) gene hotspot mutation identified in clear cell renal cell carcinoma from individuals exposed occupationally to trichloroethylene (TCE) is not known.	0.142529675	2013	VHL	3	10142088	C	T
rs1137100	24935373	3953	LEPR	umls:C0279702	BeFree	Association of leptin receptor Lys109Arg and Gln223Arg polymorphisms with increased risk of clear cell renal cell carcinoma.	0.000271442	2015	LEPR	1	65570758	A	G
rs1137101	24935373	3953	LEPR	umls:C0279702	BeFree	Association of leptin receptor Lys109Arg and Gln223Arg polymorphisms with increased risk of clear cell renal cell carcinoma.	0.000271442	2015	LEPR	1	65592830	A	G
rs12553173	19539328	768	CA9	umls:C0279702	BeFree	CA9 rs12553173 and CAIX are independent prognostic factors of overall survival and complementary for predicting the prognosis of metastatic clear cell renal cell carcinoma.	0.001900093	2009	CA9;ARHGEF39	9	35674104	T	C
rs137853247	NA	6927	HNF1A	umls:C0279702	CLINVAR	NA	0.12	NA	HNF1A	12	120978860	G	A,C
rs182052	25827778	9370	ADIPOQ	umls:C0279702	BeFree	ADIPOQ polymorphism rs182052 is associated with clear cell renal cell carcinoma.	0.000271442	2015	ADIPOQ	3	186842993	G	A
rs2010963	25239121	2324	FLT4	umls:C0279702	BeFree	Our results indicate that VEGFA rs2010963 and VEGFR3 rs448012 are associated with risk of ccRCC.	0.000271442	2015	VEGFA	6	43770613	C	G
rs2010963	25239121	7422	VEGFA	umls:C0279702	BeFree	Furthermore, rs2010963 is a functional SNP that may affect ccRCC susceptibility by modulating endogenous VEGFA expression.	0.007057489	2015	VEGFA	6	43770613	C	G
rs28940297	11986208	7428	VHL	umls:C0279702	UNIPROT	Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma.	0.142529675	2002	VHL	3	10149811	T	C
rs34589476	24929890	7428	VHL	umls:C0279702	BeFree	Subsequent sequence analysis revealed a heterozygous R988C mutation of the MET gene and a VHL deletion in both the primary tumor and the tumor-derived ccRCC cell line.	0.142529675	2014	MET	7	116771869	C	T
rs397507444	21489764	4524	MTHFR	umls:C0279702	BeFree	Methylenetetrahydrofolate reductase (MTHFR) gene C677T, A1298C and G1793A polymorphisms: association with risk for clear cell renal cell carcinoma and tumour behaviour in men.	0.002909916	2012	MTHFR	1	11794407	T	G
rs448012	25239121	2324	FLT4	umls:C0279702	BeFree	Our results indicate that VEGFA rs2010963 and VEGFR3 rs448012 are associated with risk of ccRCC.	0.000271442	2015	FLT4	5	180619344	G	C
rs587776825	NA	6927	HNF1A	umls:C0279702	CLINVAR	NA	0.12	NA	HNF1A	12	120994322	-	C
rs7121	16467086	2778	GNAS	umls:C0279702	BeFree	The GNAS1 T393C polymorphism predicts survival in patients with clear cell renal cell carcinoma.	0.000542884	2006	GNAS	20	58903752	C	T
rs71428439	25213695	406941	MIR149	umls:C0279702	BeFree	miR149 rs71428439 polymorphism and risk of clear cell renal cell carcinoma: a case-control study.	0.000271442	2014	GPC1;MIR149;PP14571	2	240456083	A	G
rs78683075	18794106	201163	FLCN	umls:C0279702	UNIPROT	Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.	0.200542884	2008	FLCN	17	17222565	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0005584	Renal cell carcinoma	MP:0013774	decreased KLRG1-positive T-helper cell number	reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0005584	Renal cell carcinoma	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance

Disease ID	449
Disease	clear cell renal carcinoma
Case	(Waiting for update.)

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