Gene: OCRL ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.150 GeneticVariation disease BEFREE A truncating mutation in exon 8 of OCRL1 was reported in a case of Lowe syndrome with cataract. 28991511 2018
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.150 Biomarker disease BEFREE The roles of OCRL and INPP5B in the development of cataracts and glaucoma are not understood. 23805271 2013
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.150 GeneticVariation disease BEFREE OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts. 21822997 2011
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.150 GeneticVariation disease BEFREE It remains to be elucidated why the various OCRL1 mutations found in patients with Dent 2 disease do not cause cataracts. 17162149 2006
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.150 GeneticVariation disease BEFREE These findings demonstrate that mutations in OCRL1 can occur with the isolated renal phenotype of Dent disease in patients lacking the cataracts, renal tubular acidosis, and neurological abnormalities that are characteristic of Lowe syndrome. 15627218 2005
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.150 Biomarker disease HPO