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GENE - TERM ANNOTATION REPORT

RGD ID: 1318705
Species: Homo sapiens
RGD Object: Gene
Symbol: LOXL1
Name: lysyl oxidase like 1
Acc ID: DOID:13641
Term: exfoliation syndrome
Definition: A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157521/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
LOXL1 IAGP 7387325RGDDNA:SNP: :p.R141L (rs1048661) (human) 
LOXL1 IAGP 7387326RGDDNA:SNP: :multiple 
LOXL1 IAGP 7387327RGDDNA:SNP, haplotypes: :rs1048661, rs3825942 (human) 
LOXL1 IAGP 7387328RGDDNA:SNP:exon:rs1048661, rs3825942 (human) 
LOXL1 IAGP 7387331RGDDNA:SNP, haplotypes:promoter:multiple 
LOXL1 IAGP 7387332RGDDNA:SNPs:exon:p.R141L, p.G153D (human) 
LOXL1no_associationIAGP 7387333RGDDNA:CNVs 
LOXL1 IEP 7387329RGD  
LOXL1 ISOLoxl1 (Mus musculus)7394726RGD  
LOXL1susceptibilityIAGP 7240710OMIM  
LOXL1 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:25706626 PMID:28553957
LOXL1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Exfoliation syndrome, susceptibility toPMID:19343041
LOXL1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Exfoliation syndrome, susceptibility toPMID:17690259 PMID:18037624 PMID:19343041
LOXL1 ISSLoxl1 (Mus musculus)13592920MouseDOOMIM:177650 
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