Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome
0.060 Biomarker disease BEFREE These results suggest that the functions of OCRL/INPP5B and proton-chloride exchange transporter 5 converge on shared mechanisms, the impairment of which has a dramatic effect on proximal tubule endocytosis. 27895154 2017
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome
0.060 Biomarker disease BEFREE Altogether, we describe here differential phenotypes between fibroblasts from Lowe and Dent-2 patients, both associated with OCRL LOF mutations, we exclude direct roles of PI(4,5)P2 and INPP5B in this phenotypic variability and we underline potential key alterations leading to ocular and neurological clinical features in Lowe syndrome. 25305077 2015
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome
0.060 Biomarker disease BEFREE Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. 23805271 2013
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome
0.060 Biomarker disease BEFREE These observations form the foundation for analyzing the functional basis for the difference in how Inpp5b and INPP5B compensate for loss of Ocrl function and, by providing insight into the cellular roles of Ocrl and Inpp5b, aid in the development of a model system in which to study Lowe syndrome. 20872266 2010
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome
0.060 GeneticVariation disease BEFREE Several studies have revealed that the molecular basis of Lowe's syndrome is due to mutations in the 5-ptase OCRL (oculocerebrorenal syndrome of Lowe). 19272022 2009
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome
0.060 Biomarker disease BEFREE Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. 9593760 1998