Details of Disease

General Information of Disease (ID: DISF9EJ8)

Disease Name Cataract 2, multiple types
Synonyms CTRCT2; cataract 2 multiple types; cataract, Coppock-like; cataract 2 multiple types with or without microcornea; cataract 2, multiple types, with or without microcornea
Definition Any cataract in which the cause of the disease is a mutation in the CRYGC gene.
Disease Hierarchy
DISUD7SL: Cataract
DISF9EJ8: Cataract 2, multiple types
Disease Identifiers
MONDO ID
MONDO_0100436
UMLS CUI
C4721890
OMIM ID
604307
MedGen ID
1648415

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRYGD OTW29JC4 Strong Biomarker [1]
CRYBB2 OTL0Z8E6 Definitive Autosomal dominant [2]
CRYGC OTYSTQWI Definitive Autosomal dominant [3]
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References

1 Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract. Genomics. 2000 Feb 1;63(3):314-20. doi: 10.1006/geno.1999.6054.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3 The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet. 1999 Nov;65(5):1261-7. doi: 10.1086/302619.