DKCB
MCID: DYS040
MIFTS: 20

Dyskeratosis Congenita Autosomal Recessive (DKCB) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases categories
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Summaries for Dyskeratosis Congenita Autosomal Recessive

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MalaCards based summary: 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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Dyskeratosis Congenita Autosomal Recessive, Aliases & Descriptions:

Name: Dyskeratosis Congenita Autosomal Recessive 42
Autosomal Recessive Dyskeratosis Congenita 42 22
 
Dyskeratosis Congenita, Autosomal Recessive 62
Dkcb 42


Classifications:



Related Diseases for Dyskeratosis Congenita Autosomal Recessive

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Graphical network of diseases related to Dyskeratosis Congenita Autosomal Recessive:



Diseases related to dyskeratosis congenita autosomal recessive

Symptoms for Dyskeratosis Congenita Autosomal Recessive

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Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Recessive

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Drug clinical trials:

Search ClinicalTrials for Dyskeratosis Congenita Autosomal Recessive

Search NIH Clinical Center for Dyskeratosis Congenita Autosomal Recessive

Genetic Tests for Dyskeratosis Congenita Autosomal Recessive

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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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Variations for Dyskeratosis Congenita Autosomal Recessive

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Clinvar genetic disease variations for Dyskeratosis Congenita Autosomal Recessive:

6
id Gene Name Type Significance SNP ID Assembly Location
1NOP10NM_018648.3(NOP10): c.100C> T (p.Arg34Trp)single nucleotide variantPathogenicrs121908092GRCh37Chr 15, 34634264: 34634264
2NHP2NM_017838.3(NHP2): c.415T> C (p.Tyr139His)single nucleotide variantPathogenicrs121908089GRCh37Chr 5, 177576761: 177576761
3NHP2NM_017838.3(NHP2): c.376G> A (p.Val126Met)single nucleotide variantPathogenicrs121908090GRCh37Chr 5, 177576800: 177576800
4NHP2NM_017838.3(NHP2): c.460T> A (p.Ter154Arg)single nucleotide variantPathogenicrs121908091GRCh37Chr 5, 177576716: 177576716

Expression for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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Expression patterns in normal tissues for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

Search GEO for disease gene expression data for Dyskeratosis Congenita Autosomal Recessive.

Pathways for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1NOP10, NHP2

Compounds for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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

idCompoundScoreTop Affiliating Genes
1pseudouridine44 2410.1NOP10, NHP2

GO Terms for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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

idNameGO IDScoreTop Affiliating Genes
1Cajal bodyGO:0150309.1NOP10, NHP2
2small nucleolar ribonucleoprotein complexGO:0057328.8NOP10, NHP2

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

idNameGO IDScoreTop Affiliating Genes
1snoRNA bindingGO:0305159.1NOP10, NHP2

Products for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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  • Antibodies
  • Proteins
  • Lysates

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