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dyskeratosis congenita
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
DCLRE1B
HLA-DRB1
TERT
DKC1
NOP10
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
telomerase holoenzyme complex
box H/ACA telomerase RNP complex
box H/ACA RNP complex
positive regulation of telomerase RNA localization to Cajal body
PID_TELOMERASE_PATHWAY
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Genodermatosis
iPSC of dyskeratosis congenita patient with PARN mutation after PAPD5 knockdown
OMIM - Congenital disorder
OMIM - Skin Related Disorders
OMIM - Autoinflammation
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Literature
Most Relevant Literature
Linking Gene Fusions to Bone Marrow Failure and Malignant Transformation in Dyskeratosis Congenita.
Bilateral cytomegalovirus retinitis as the presenting feature of Dyskeratosis Congenita.
Severe Thrombocytopenia Due to Bone Marrow Failure in Children With Dyskeratosis Congenita Does Not …
Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere …
The biology and management of dyskeratosis congenita and related disorders of telomeres.
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Clinical Trials
Most Relevant Clinical Trials
Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA
Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Con…
Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Te…
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