Details of Disease

General Information of Disease (ID: DISJ7NYA)

Disease Name Stickler syndrome, IIa 6
Synonyms stickler syndrome, IIa 6; STL6
Disease Hierarchy
DISQWFHN: Stickler syndrome
DISJ7NYA: Stickler syndrome, IIa 6
Disease Identifiers
MONDO ID
MONDO_0031047
UMLS CUI
C5774207
OMIM ID
620022
MedGen ID
1823980

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
COL9A3 OTCUJOEK 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.