DKCB
MCID: DYS040
MIFTS: 17

Dyskeratosis Congenita Autosomal Recessive (DKCB) malady

Summaries for Dyskeratosis Congenita Autosomal Recessive

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32MalaCards
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MalaCards: Dyskeratosis Congenita Autosomal Recessive, also known as autosomal recessive dyskeratosis congenita, is related to dyskeratosis congenita and dyskeratosis congenita, autosomal recessive 4. An important gene associated with Dyskeratosis Congenita Autosomal Recessive is NOP10 (NOP10 ribonucleoprotein), and among its related pathways is Ribosome biogenesis in eukaryotes. The compound pseudouridine have been mentioned in the context of this disorder.

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

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42NIH Rare Diseases, 22GTR
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Aliases & Descriptions:

dyskeratosis congenita autosomal recessive 42
autosomal recessive dyskeratosis congenita 42 22
dkcb 42


Related Diseases for Dyskeratosis Congenita Autosomal Recessive

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Dyskeratosis Congenita Autosomal Recessive:



Diseases related to dyskeratosis congenita autosomal recessive

Clinical Features for Dyskeratosis Congenita Autosomal Recessive

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Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Recessive

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

Search CenterWatch for Dyskeratosis Congenita Autosomal Recessive

Drug clinical trials:

Search ClinicalTrials for Dyskeratosis Congenita Autosomal Recessive

Search NIH Clinical Center for Dyskeratosis Congenita Autosomal Recessive

Search CenterWatch for Dyskeratosis Congenita Autosomal Recessive

Genetic Tests for Dyskeratosis Congenita Autosomal Recessive

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22GTR
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Genetic tests related to Dyskeratosis Congenita Autosomal Recessive:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita Autosomal Recessive22

Anatomical Context for Dyskeratosis Congenita Autosomal Recessive

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Animal Models for Dyskeratosis Congenita Autosomal Recessive or affiliated genes

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Publications for Dyskeratosis Congenita Autosomal Recessive

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Genetic Variations for Dyskeratosis Congenita Autosomal Recessive

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Expression for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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Pathways for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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29KEGG
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Pathways related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3NHP2, NOP10

Compounds for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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44Novoseek, 24HMDB
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Compounds related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pseudouridine44 2410.3NHP2, NOP10

GO Terms for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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16Gene Ontology
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Cellular components related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small nucleolar ribonucleoprotein complexGO:0057329.0NHP2, NOP10
2telomerase holoenzyme complexGO:0056979.0TERT, WRAP53
3Cajal bodyGO:0150308.5WRAP53, NOP10, NHP2
4nucleolusGO:0057308.0NOP10, TERT, NHP2, WRAP53

Biological processes related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomere formation via telomeraseGO:0322039.1TERT, WRAP53

Molecular functions related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1snoRNA bindingGO:0305159.3NHP2, NOP10

Products for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dyskeratosis Congenita Autosomal Recessive

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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