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Oculocerebrorenal syndrome
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
OCRL
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Inositol polyphosphate 5-phosphatase, clathrin binding domain
OCRL1, PH domain
OCRL1/INPP5B, INPP5c domain
inositol-1,4,5-trisphosphate 5-phosphatase activity
inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity
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Most Correlated Studies
OMIM - Congenital disorder
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Literature
Most Relevant Literature
A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.
Exploring pain catastrophizing and its associations with low disease activity in rheumatic inflammat…
Novel OCRL mutations in Chinese children with Lowe syndrome.
Low disease activity state associated with fewer incident vertebral fractures in Mestizo women with …
Real-world efficacy of belimumab in achieving remission or low-disease activity in systemic lupus er…
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Clinical Trials
Most Relevant Clinical Trials
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
Study of the Pathophysiological Mechanisms Involved in Bleeding Events
Prospective Research Rare Kidney Stones (ProRKS)
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
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