Details of Disease | DrugMAP

General Information of Disease (ID: DISBRXRN)

Disease Name	Cataract 48
Synonyms	CATARACT 48; CTRCT48
Disease Hierarchy	DISUD7SL: Cataract DISBRXRN: Cataract 48
Disease Identifiers	MONDO ID MONDO_0032735 UMLS CUI C5193082 OMIM ID 618415 MedGen ID 1684457

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
DNMBP	OTMHH14H	Strong	Autosomal recessive	[1]
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References

1	Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. Am J Hum Genet. 2018 Oct 4;103(4):568-578. doi: 10.1016/j.ajhg.2018.09.004.