MCID: PRT069

Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis malady

Nephrological category

Summaries for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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47OMIM, 33MalaCards
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MalaCards: Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis An important gene associated with Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis is CLCN5 (chloride channel, voltage-sensitive 5).

Description from OMIM:47 308990

Aliases & Classifications for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological


Aliases & Descriptions:

proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 47


Related Diseases for Proteinuria, Low Molecular Weight, with Hypercalciuric...

Clinical Features for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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47OMIM
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Clinical features from OMIM:

308990

Clinical synopsis from OMIM:

308990

Drugs & Therapeutics for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis

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Genetic Tests for Proteinuria, Low Molecular Weight, with Hypercalciuric...

Anatomical Context for Proteinuria, Low Molecular Weight, with Hypercalciuric...

Animal Models for Proteinuria, Low Molecular Weight, with Hypercalciuric... or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Proteinuria, Low Molecular Weight, with Hypercalciuric...

Genetic Variations for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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63UniProtKB/Swiss-Prot
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Genetic disease variations for Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis:

63
id Symbol AA change Variation SNP ID
1CLCN5p.Arg280ProVAR_001619
2CLCN5p.Ile524LysVAR_065611

Expression for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric...

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis

Search GEO for disease gene expression data for Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis.

Pathways for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric...

Compounds for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric...

GO Terms for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric...

Products for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric...

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Proteinuria, Low Molecular Weight, with Hypercalciuric...

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet