MCID: NPH046

Nephrolithiasis, Type I malady

Nephrological diseases category

Summaries for Nephrolithiasis, Type I

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Sources:
46OMIM, 32MalaCards
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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:46 310468

Aliases & Classifications for Nephrolithiasis, Type I

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Sources:
46OMIM
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Classifications:

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


Aliases & Descriptions:

nephrolithiasis, type i 46


Related Diseases for Nephrolithiasis, Type I

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Diseases in the Nephrolithiasis family:

nephrolithiasis, type i

Clinical Features for Nephrolithiasis, Type I

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46OMIM
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Clinical features from OMIM:

310468

Clinical synopsis from OMIM:

310468

Drugs & Therapeutics for Nephrolithiasis, Type I

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Nephrolithiasis, Type I

Drug clinical trials:

Search ClinicalTrials for Nephrolithiasis, Type I

Search NIH Clinical Center for Nephrolithiasis, Type I

Search CenterWatch 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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Genetic Variations for Nephrolithiasis, Type I

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Nephrolithiasis, Type I:

62
id Symbol AA change Variation ID SNP ID
1CLCN5p.Gly506GluVAR_001620

Expression for genes affiliated with Nephrolithiasis, Type I

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nephrolithiasis, Type I

Search GEO for disease gene expression data for Nephrolithiasis, Type I.

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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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