Dyskeratosis Congenita, Autosomal Recessive 1 (DKCB1)

Alias:
Dkcb1
Dyskeratosis Congenita, Autosomal Recessive, 1
Autosomal Recessive Dyskeratosis Congenita 1
Dyskeratosis Congenita, Autosomal Recessive, Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dyskeratosis Congenita, Autosomal Recessive 1, also known as dkcb1, is related to dyskeratosis congenita, autosomal dominant 1 and cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2. An important gene associated with Dyskeratosis Congenita, Autosomal Recessive 1 is NOP10 (NOP10 Ribonucleoprotein), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. Affiliated tissues include bone marrow and skin, and related phenotypes are nail dystrophy and palmoplantar hyperkeratosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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7
38
10

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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