Details of Disease

General Information of Disease (ID: DISKQHGW)

Disease Name Retinitis pigmentosa 35
Synonyms RP 35; retinitis pigmentosa 35; retinitis pigmentosa type 35; RP35; retinitis pigmentosa caused by mutation in SEMA4A; SEMA4A retinitis pigmentosa
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISKQHGW: Retinitis pigmentosa 35
Disease Identifiers
MONDO ID
MONDO_0012463
UMLS CUI
C1853214
OMIM ID
610282
MedGen ID
339931

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
SEMA4A OT8901H3 Limited Autosomal recessive [1]
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References

1 On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness. Ophthalmic Genet. 2018 Jan-Feb;39(1):144-146. doi: 10.1080/13816810.2017.1354384. Epub 2017 Aug 14.