Details of Disease | DrugMAP

General Information of Disease (ID: DISQTA7T)

Disease Name	Dyskeratosis congenita, autosomal recessive 8
Disease Hierarchy	DISSXV0K: Dyskeratosis congenita DISQTA7T: Dyskeratosis congenita, autosomal recessive 8
Disease Identifiers	MONDO ID MONDO_0859319 UMLS CUI C5774257 OMIM ID 620133 MedGen ID 1824030

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DCLRE1B	OT2LFW7A	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.