MCID: GLM024
MIFTS: 11

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria malady

Genetic diseases (common) category

Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

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48OMIM, 34MalaCards
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MalaCards: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is related to primary hyperoxaluria and umod-associated kidney disease. An important gene associated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is UMOD (uromodulin). Affiliated tissues include kidney.

Description from OMIM:48 609886

Aliases & Classifications for Glomerulocystic Kidney Disease with Hyperuricemia and...

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48OMIM
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Classifications:

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Global: Genetic diseases (common)


Aliases & Descriptions:

glomerulocystic kidney disease with hyperuricemia and isosthenuria 48


Related Diseases for Glomerulocystic Kidney Disease with Hyperuricemia and...

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18GeneCards, 19GeneDecks
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Diseases related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1primary hyperoxaluria10.0UMOD
2umod-associated kidney disease10.0UMOD, MCKD2
3familial juvenile hyperuricaemic nephropathy9.9UMOD, MCKD2

Symptoms for Glomerulocystic Kidney Disease with Hyperuricemia and...

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48OMIM
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Clinical features from OMIM:

609886

Drugs & Therapeutics for Glomerulocystic Kidney Disease with Hyperuricemia and...

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

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Drug clinical trials:

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Search NIH Clinical Center for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

Search CenterWatch for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

Genetic Tests for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Anatomical Context for Glomerulocystic Kidney Disease with Hyperuricemia and...

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34MalaCards
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MalaCards organs/tissues related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

34
Kidney

Animal Models for Glomerulocystic Kidney Disease with Hyperuricemia and... or affiliated genes

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Publications for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Variations for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

65
id Symbol AA change Variation ID SNP ID
1UMODp.Cys315ArgVAR_025961

Clinvar genetic disease variations for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

1
id Gene Name Type Significance SNP ID Assembly Location
1UMODNM_003361.3(UMOD): c.943T> C (p.Cys315Arg)single nucleotide variantPathogenicrs121917773GRCh37Chr 16, 20359575: 20359575

Expression for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

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Pathways for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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Compounds for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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GO Terms for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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Products for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glomerulocystic Kidney Disease with Hyperuricemia and...

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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