MCID: GLM024
MIFTS: 11

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria malady

Genetic diseases (common) category
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Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

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47OMIM, 33MalaCards
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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:47 609886

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

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47OMIM
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Classifications:

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Global: Genetic diseases (common)


Aliases & Descriptions:

glomerulocystic kidney disease with hyperuricemia and isosthenuria 47


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

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17GeneCards, 18GeneDecks
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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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47OMIM
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Clinical features from OMIM:

609886

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

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

33
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:
64UniProtKB/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:

64
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

Search GEO for disease gene expression data for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria.

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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet