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retinitis pigmentosa

Disease Summary
Associated Targets (209)
Tbio

170

Tchem

23

Tclin

10

Tdark

6


Explore Associated Targets
Mondo Description Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Uniprot Description A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Disease Ontology Description A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
Mondo Term and Equivalent IDs
MONDO:0019200:  retinitis pigmentosa
GARD:0005694: 
MESH:D012174: 
NCIT:C85045: 
OMIMPS:268000: 
Orphanet:791: 
SCTID:28835009: 
UMLS:C0035334: 
UMLS:C4072872: 
GWAS Targets (11)
Target
TDL
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
2
1
0
6.7
30.6
Tbio
2
1
0
40.2
27.9
Tbio
2
1
0
31.3
27.9
Tbio
2
1
0
31.3
27.9
Tclin
2
1
0
40.2
27.9
Target
TDL
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
0
6.7
30.6
Tbio
0
40.2
27.9
Tbio
0
31.3
27.9
Tbio
0
31.3
27.9
Tclin
0
40.2
27.9
Disease Hierarchy
Parents
Tbio

449

Tchem

93

Tclin

49

Tdark

35

Children
Tbio

76

Tchem

8

Tdark

3

Tclin

2

Target Novelty (Tin-x)