Details of Disease

General Information of Disease (ID: DISDMMM9)

Disease Name Cataract 36
Synonyms
cataract, autosomal recessive congenital 4; CTRCT36; cataract 36; TDRD7 cataract (disease); CATC4; cataract type 36; autosomal recessive congenital cataract 4; cataract (disease) caused by mutation in TDRD7
Definition Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.
Disease Hierarchy
DISUD7SL: Cataract
DISDMMM9: Cataract 36
Disease Identifiers
MONDO ID
MONDO_0013484
UMLS CUI
C3151304
OMIM ID
613887
MedGen ID
462654

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
TDRD7 OTK639ET Strong Autosomal recessive [1]
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References

1 Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science. 2011 Mar 25;331(6024):1571-6. doi: 10.1126/science.1195970.