MCID: NPH046

Nephrolithiasis, Type I malady

Genetic diseases (common), Nephrological diseases categories

Summaries for Nephrolithiasis, Type I

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Sources:
48OMIM, 34MalaCards
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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:48 310468

Aliases & Classifications for Nephrolithiasis, Type I

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Sources:
48OMIM
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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 48


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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Sources:
48OMIM
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Variations for Nephrolithiasis, Type I

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Sources:
65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Nephrolithiasis, Type I:

65
id Symbol AA change Variation ID SNP ID
1CLCN5p.Gly506GluVAR_001620

Expression for genes affiliated with Nephrolithiasis, Type I

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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet