MCID: RNL061
MIFTS: 15

Renal Carcinoma, Chromophobe, Somatic malady

Genetic diseases (common), Nephrological diseases, Cancer diseases categories

Summaries for Renal Carcinoma, Chromophobe, Somatic

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48OMIM, 34MalaCards
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MalaCards: Renal Carcinoma, Chromophobe, Somatic is related to birt-hogg-dube syndrome and oxyphilic adenoma. An important gene associated with Renal Carcinoma, Chromophobe, Somatic is BHD (Beukes familial hip dysplasia), and among its related pathways is Renal cell carcinoma. The compound rapamycin have been mentioned in the context of this disorder. Related mouse phenotype tumorigenesis.

Description from OMIM:48 144700

Aliases & Classifications for Renal Carcinoma, Chromophobe, Somatic

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48OMIM
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Classifications:



Aliases & Descriptions:

renal carcinoma, chromophobe, somatic 48


Related Diseases for Renal Carcinoma, Chromophobe, Somatic

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18GeneCards, 19GeneDecks
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Diseases related to Renal Carcinoma, Chromophobe, Somatic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1birt-hogg-dube syndrome10.0FLCN
2oxyphilic adenoma10.0FLCN, VHL
3kidney cancer10.0VHL, FLCN
4kidney rhabdoid cancer10.0FLCN, VHL

Symptoms for Renal Carcinoma, Chromophobe, Somatic

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48OMIM
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Clinical features from OMIM:

144700

Drugs & Therapeutics for Renal Carcinoma, Chromophobe, Somatic

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Renal Carcinoma, Chromophobe, Somatic

Drug clinical trials:

Search ClinicalTrials for Renal Carcinoma, Chromophobe, Somatic

Search NIH Clinical Center for Renal Carcinoma, Chromophobe, Somatic

Search CenterWatch for Renal Carcinoma, Chromophobe, Somatic

Genetic Tests for Renal Carcinoma, Chromophobe, Somatic

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Anatomical Context for Renal Carcinoma, Chromophobe, Somatic

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Animal Models for Renal Carcinoma, Chromophobe, Somatic or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Renal Carcinoma, Chromophobe, Somatic:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1VHL, FLCN

Publications for Renal Carcinoma, Chromophobe, Somatic

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Variations for Renal Carcinoma, Chromophobe, Somatic

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Sources:
65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Renal Carcinoma, Chromophobe, Somatic:

65
id Symbol AA change Variation ID SNP ID
1FLCNp.Arg239CysVAR_066026rs78683075
2VHLp.Leu163ProVAR_034998rs28940297

Expression for genes affiliated with Renal Carcinoma, Chromophobe, Somatic

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Renal Carcinoma, Chromophobe, Somatic

Search GEO for disease gene expression data for Renal Carcinoma, Chromophobe, Somatic.

Pathways for genes affiliated with Renal Carcinoma, Chromophobe, Somatic

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51PathCards, 31KEGG
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Pathways related to Renal Carcinoma, Chromophobe, Somatic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1VHL, FLCN

Compounds for genes affiliated with Renal Carcinoma, Chromophobe, Somatic

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46Novoseek
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Compounds related to Renal Carcinoma, Chromophobe, Somatic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rapamycin469.1VHL, FLCN

GO Terms for genes affiliated with Renal Carcinoma, Chromophobe, Somatic

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Sources:
17Gene Ontology
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Biological processes related to Renal Carcinoma, Chromophobe, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:0001229.1VHL, FLCN

Products for genes affiliated with Renal Carcinoma, Chromophobe, Somatic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Renal Carcinoma, Chromophobe, Somatic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet