MCID: NPH046

Nephrolithiasis, Type I malady

Genetic diseases (common), Nephrological diseases categories
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Summaries for Nephrolithiasis, Type I

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Sources:
47OMIM, 33MalaCards
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MalaCards: Nephrolithiasis, Type I An important gene associated with Nephrolithiasis, Type I is CLCN5 (chloride channel, voltage-sensitive 5).

Description from OMIM:47 310468

Aliases & Classifications for Nephrolithiasis, Type I

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47OMIM
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Classifications:

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


Aliases & Descriptions:

nephrolithiasis, type i 47


Related Diseases for Nephrolithiasis, Type I

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Diseases in the Nephrolithiasis family:

nephrolithiasis, type i

Symptoms for Nephrolithiasis, Type I

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47OMIM
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Symptoms by clinical synopsis from OMIM:

310468

Clinical features from OMIM:

310468

Drugs & Therapeutics for Nephrolithiasis, Type I

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Nephrolithiasis, Type I

Genetic Tests for Nephrolithiasis, Type I

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Anatomical Context for Nephrolithiasis, Type I

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Animal Models for Nephrolithiasis, Type I or affiliated genes

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Publications for Nephrolithiasis, Type I

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Variations for Nephrolithiasis, Type I

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Sources:
64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Nephrolithiasis, Type I:

64
id Symbol AA change Variation ID SNP ID
1CLCN5p.Gly506GluVAR_001620

Expression for genes affiliated with Nephrolithiasis, Type I

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nephrolithiasis, Type I

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Pathways for genes affiliated with Nephrolithiasis, Type I

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Compounds for genes affiliated with Nephrolithiasis, Type I

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GO Terms for genes affiliated with Nephrolithiasis, Type I

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Products for genes affiliated with Nephrolithiasis, Type I

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nephrolithiasis, Type I

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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