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exfoliation syndrome

Disease Summary
Associated Targets (10)
Tbio

7

Tdark

2

Tchem

1


Explore Associated Targets
Mondo Description An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.
Uniprot Description A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues.
Mondo Term and Equivalent IDs
MONDO:0008327:  exfoliation syndrome
COHD:437273: 
EFO:0004235: 
ICD9:365.52: 
MESH:D017889: 
NCIT:C129025: 
SCTID:111514006: 
UMLS:C0206368: 
GWAS Targets (5)
Target
TDL
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tdark
4
5
0
9.9
99.1
Tbio
4
5
0
9.9
99.1
Tbio
4
5
0
9.9
99.1
Tbio
4
4
0
15
98.7
Tchem
1
1
0
1.2
48.5
Target
TDL
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tdark
0
9.9
99.1
Tbio
0
9.9
99.1
Tbio
0
9.9
99.1
Tbio
0
15
98.7
Tchem
0
1.2
48.5
Target Novelty (Tin-x)