Details of Disease | DrugMAP

General Information of Disease (ID: DIS4S1B1)

Disease Name	Cone-rod dystrophy and hearing loss 2
Synonyms	CRDHL2; CONE-ROD DYSTROPHY AND HEARING LOSS 2
Disease Hierarchy	DISZIE9F: Cone-rod dystrophy and hearing loss DIS4S1B1: Cone-rod dystrophy and hearing loss 2
Disease Identifiers	MONDO ID MONDO_0020780 UMLS CUI C5193051 OMIM ID 618358 MedGen ID 1675017

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CEP250	TTPOA6U	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CEP250	OT1GJM6C	Strong	Autosomal recessive	[1]
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References

1	A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. J Med Genet. 2014 Jul;51(7):460-9. doi: 10.1136/jmedgenet-2014-102287. Epub 2014 Apr 29.