DKCB
MCID: DYS040
MIFTS: 15

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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33MalaCards
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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.

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

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43NIH Rare Diseases, 22GTR
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Classifications:



Aliases & Descriptions:

dyskeratosis congenita autosomal recessive 43
autosomal recessive dyskeratosis congenita 43 22
dkcb 43


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

Symptoms for Dyskeratosis Congenita Autosomal Recessive

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Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Recessive

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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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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Variations for Dyskeratosis Congenita Autosomal Recessive

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Dyskeratosis Congenita Autosomal Recessive:

1
id Gene Name Type Significance SNP ID Assembly Location
1TERTNM_198253.2(TERT): c.2431C> T (p.Arg811Cys)single nucleotide variantPathogenicrs199422301GRCh37Chr 5, 1271271: 1271271
2TERTNM_198253.2(TERT): c.2701C> T (p.Arg901Trp)single nucleotide variantPathogenicrs199422304GRCh37Chr 5, 1264661: 1264661
3NOP10NM_018648.3(NOP10): c.100C> T (p.Arg34Trp)single nucleotide variantPathogenicrs121908092GRCh37Chr 15, 34634264: 34634264
4NHP2NM_017838.3(NHP2): c.415T> C (p.Tyr139His)single nucleotide variantPathogenicrs121908089GRCh37Chr 5, 177576761: 177576761
5NHP2NM_017838.3(NHP2): c.376G> A (p.Val126Met)single nucleotide variantPathogenicrs121908090GRCh37Chr 5, 177576800: 177576800
6NHP2NM_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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15Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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GO Terms for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet