Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		0.010 Biomarker disease BEFREE At least one instance of recombination was found between the G6PD and the Lowe syndrome loci. 7180850 1982
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		0.010 GeneticVariation disease BEFREE We propose the following order for markers in Xq24-q26: Xcen-(DXS42,DXS37,DXS100)-OCRL-DXS53 -HPRT-[(DXS10,DXS86),DXS177]-Xqter. 2081601 1990
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 GeneticVariation disease BEFREE The identification of mutations in the OCRL-1 gene provides strong genetic evidence for its being the gene involved in Lowe syndrome. 8504307 1993
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 CausalMutation disease CLINVAR Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. 8504307 1993
Entrez Id: 174
Gene Symbol: AFP
AFP 		0.010 AlteredExpression disease BEFREE Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels. 7516514 1994
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 Biomarker disease BEFREE By immunofluorescence, the ocrl-1 antibody stains a juxtanuclear region in normal fibroblast cells, while no specific staining is evident in the OCRL patient who produces no transcript. 7573041 1995
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K 		0.020 Biomarker disease BEFREE The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. 7761412 1995
Entrez Id: 3635
Gene Symbol: INPP5D
INPP5D 		0.020 Biomarker disease BEFREE The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. 7761412 1995
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		0.020 Biomarker disease BEFREE The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. 7761412 1995
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 GeneticVariation disease UNIPROT These results confirm and extend our previous observation that the OCRL phenotype results from loss of function of the ocrl1 protein and that mutations are generally heterogeneous. 9199559 1997
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 GeneticVariation disease BEFREE These results confirm and extend our previous observation that the OCRL phenotype results from loss of function of the ocrl1 protein and that mutations are generally heterogeneous. 9199559 1997
Entrez Id: 1071
Gene Symbol: CETP
CETP 		0.010 GeneticVariation disease BEFREE Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation. 9116424 1997
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 GeneticVariation disease UNIPROT Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. 9682219 1998
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 GeneticVariation disease BEFREE Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. 9788721 1998
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 GeneticVariation disease UNIPROT A gene (OCRL1) responsible for OCRL was identified by positional cloning and its product OCRL-1 protein was shown to be a phosphatidylinositol 4,5-bisphosphate [PtdIns(4,5)P2] 5-phosphatase localized to the Golgi apparatus. 9632163 1998
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 GeneticVariation disease BEFREE Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. 9682219 1998
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 GeneticVariation disease UNIPROT Our observations expand the range of OCRL1 mutations that cause Lowe syndrome, and will be useful for genetic counseling in these two families. 9788721 1998
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 Biomarker disease CTD_human The cells from the Lowe syndrome patient lack OCRL protein. 9430698 1998
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 AlteredExpression disease BEFREE A gene (OCRL1) responsible for OCRL was identified by positional cloning and its product OCRL-1 protein was shown to be a phosphatidylinositol 4,5-bisphosphate [PtdIns(4,5)P2] 5-phosphatase localized to the Golgi apparatus. 9632163 1998
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 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
Entrez Id: 3633
Gene Symbol: INPP5B
INPP5B 		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
Entrez Id: 3635
Gene Symbol: INPP5D
INPP5D 		0.020 Biomarker disease BEFREE The pathogenesis of Lowe syndrome due to deficiency of a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi complex is unknown. 9593760 1998
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K 		0.020 Biomarker disease BEFREE The pathogenesis of Lowe syndrome due to deficiency of a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi complex is unknown. 9593760 1998
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		0.020 Biomarker disease BEFREE The pathogenesis of Lowe syndrome due to deficiency of a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi complex is unknown. 9593760 1998
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		0.800 Biomarker disease BEFREE We identified one such protein in a yeast two-hybrid screen, using as bait the peripheral Golgi phosphatidylinositol(4,5)P2 5-phosphatase OCRL1 that is implicated in a human disease, the oculocerebrorenal syndrome. 9915833 1999