Details of Disease

General Information of Disease (ID: DISPQWWK)

Disease Name Cataract 49
Synonyms CTRCT49
Disease Hierarchy
DISUD7SL: Cataract
DISPQWWK: Cataract 49
Disease Identifiers
MONDO ID
MONDO_0030465
UMLS CUI
C5562010
OMIM ID
619593
MedGen ID
1794220

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
PANK4 OTMLNEPU Limited Unknown [1]
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References

1 A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. Hum Mutat. 2019 Apr;40(4):380-391. doi: 10.1002/humu.23696. Epub 2019 Jan 23.