MCID: PRT069

Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis malady

Nephrological diseases category

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

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46OMIM, 32MalaCards
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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:46 308990

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

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Classifications:

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


Aliases & Descriptions:

proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 46


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

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

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46OMIM
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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, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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

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

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

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis:

62
id Symbol AA change Variation ID 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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet