Details of Disease

General Information of Disease (ID: DISN5T3L)

Disease Name Complement factor b deficiency
Synonyms CFBD; complement factor B deficiency; complement factor b deficiency
Disease Hierarchy
DISYKSRF: Genetic disease
DISN5T3L: Complement factor b deficiency
Disease Identifiers
MONDO ID
MONDO_0014255
UMLS CUI
C3809950
OMIM ID
615561
MedGen ID
816280

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CFB TT3SGK7 Moderate Autosomal recessive [1]
CFB TTA0P7K moderate Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CFB OTZITNEJ Moderate 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.
2 Genetic polymorphism in human glycine-rich beta-glycoprotein.J Exp Med. 1972 Jan;135(1):68-80. doi: 10.1084/jem.135.1.68.