MCID: IMM060

Immunodeficiency, Common Variable, 9 malady

Immune diseases category
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Summaries for Immunodeficiency, Common Variable, 9

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MalaCards based summary: Immunodeficiency, Common Variable, 9 and has symptoms including An important gene associated with Immunodeficiency, Common Variable, 9 is PRKCD (protein kinase C, delta).

Description from OMIM:46 615559

Aliases & Classifications for Immunodeficiency, Common Variable, 9

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Immunodeficiency, Common Variable, 9, Aliases & Descriptions:

Name: Immunodeficiency, Common Variable, 9 46


Classifications:

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


Related Diseases for Immunodeficiency, Common Variable, 9

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Symptoms for Immunodeficiency, Common Variable, 9

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Symptoms by clinical synopsis from OMIM:

615559

Clinical features from OMIM:

615559

HPO human phenotypes related to Immunodeficiency, Common Variable, 9:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 nephrotic syndrome HP:0000100
3 splenomegaly HP:0001744
4 hepatomegaly HP:0002240
5 lymphadenopathy HP:0002716
6 recurrent infections HP:0002719
7 autoimmunity HP:0002960
8 infantile onset HP:0003593
9 membranous nephropathy HP:0012578

Drugs & Therapeutics for Immunodeficiency, Common Variable, 9

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Drug clinical trials:

Search ClinicalTrials for Immunodeficiency, Common Variable, 9

Search NIH Clinical Center for Immunodeficiency, Common Variable, 9

Genetic Tests for Immunodeficiency, Common Variable, 9

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Anatomical Context for Immunodeficiency, Common Variable, 9

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Animal Models for Immunodeficiency, Common Variable, 9 or affiliated genes

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Publications for Immunodeficiency, Common Variable, 9

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Variations for Immunodeficiency, Common Variable, 9

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Clinvar genetic disease variations for Immunodeficiency, Common Variable, 9:

6
id Gene Name Type Significance SNP ID Assembly Location
1PRKCDNM_006254.3(PRKCD): c.1352+1G> Asingle nucleotide variantPathogenicrs398122958GRCh37Chr 3, 53220712: 53220712

Expression for genes affiliated with Immunodeficiency, Common Variable, 9

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Expression patterns in normal tissues for genes affiliated with Immunodeficiency, Common Variable, 9

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 9.

Pathways for genes affiliated with Immunodeficiency, Common Variable, 9

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Compounds for genes affiliated with Immunodeficiency, Common Variable, 9

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GO Terms for genes affiliated with Immunodeficiency, Common Variable, 9

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Products for genes affiliated with Immunodeficiency, Common Variable, 9

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  • Antibodies
  • Proteins
  • Lysates

Sources for Immunodeficiency, Common Variable, 9

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet