rs137853832
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
Oculocerebrorenal Syndrome
0.700
GeneticVariation
UNIPROT
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
21031565
2011
rs137853832
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
Oculocerebrorenal Syndrome
0.700
GeneticVariation
UNIPROT
The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.
21233288
2011
rs137853832
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
Oculocerebrorenal Syndrome
0.700
GeneticVariation
UNIPROT
Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.
20133602
2010
rs137853832
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
Oculocerebrorenal Syndrome
0.700
GeneticVariation
UNIPROT
Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.
19168822
2009
rs137853832
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
Oculocerebrorenal Syndrome
0.700
GeneticVariation
UNIPROT
Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.
10767176
2000
rs137853832
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
Oculocerebrorenal Syndrome
0.700
GeneticVariation
UNIPROT
OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.
10923037
2000
rs137853832
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
Oculocerebrorenal Syndrome
0.700
GeneticVariation
UNIPROT
Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome.
9788721
1998
rs137853832
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
Oculocerebrorenal Syndrome
0.700
GeneticVariation
UNIPROT
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.
9632163
1998
rs137853832
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
Oculocerebrorenal Syndrome
0.700
GeneticVariation
UNIPROT
Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.
9682219
1998
rs137853832
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
Oculocerebrorenal Syndrome
0.700
GeneticVariation
UNIPROT
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.
9199559
1997