Details of Disease

General Information of Disease (ID: DISJZNT8)

Disease Name Anemia, congenital dyserythropoietic, type 1a
Synonyms
CDAN1A; dyserythropoietic Anemia, congenital, type Ia; CDA Ia; anemia, congenital dyserythropoietic, type 1; anemia, congenital dyserythropoietic, type Ia; anemia, congenital dyserythropoietic, type 1a
Disease Hierarchy
DISCBVO6: Congenital dyserythropoietic anemia type 1
DISJZNT8: Anemia, congenital dyserythropoietic, type 1a
Disease Identifiers
MONDO ID
MONDO_0009135
UMLS CUI
C5574667
OMIM ID
224120
MedGen ID
1807106

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
CDAN1 OTCVZRG6 Definitive 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.