Details of Disease

General Information of Disease (ID: DISXVC6U)

Disease Name Bardet-Biedl syndrome 20
Synonyms BBS20
Disease Hierarchy
DISTBNZW: Bardet biedl syndrome
DISXVC6U: Bardet-Biedl syndrome 20
Disease Identifiers
MONDO ID
MONDO_0023670
UMLS CUI
C4310707
OMIM ID
619471
MedGen ID
934674

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IFT172 OT12DW08 Strong Autosomal recessive [1]
IFT74 OTZBFEDD Strong Biomarker [2]
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References

1 Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28.
2 Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 Aug 4;99(2):318-36. doi: 10.1016/j.ajhg.2015.04.023.