Details of Disease

General Information of Disease (ID: DIS6AY6F)

Disease Name Retinitis pigmentosa 14
Synonyms RP 14; retinitis pigmentosa type 14; retinitis pigmentosa caused by mutation in TULP1; retinitis pigmentosa 14; TULP1 retinitis pigmentosa; RP14
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS6AY6F: Retinitis pigmentosa 14
Disease Identifiers
MONDO ID
MONDO_0010827
MESH ID
C563992
UMLS CUI
C1838603
OMIM ID
600132
MedGen ID
325056

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
TULP1 OTHGHV6D Definitive Autosomal recessive [1]
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References

1 Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. Arch Ophthalmol. 2007 Jul;125(7):932-5. doi: 10.1001/archopht.125.7.932.