Disease: Oculocerebrorenal Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853837
rs137853837
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
CUI: C0028860
Disease:
Oculocerebrorenal Syndrome 		0.700 GeneticVariation UNIPROT The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway. 21233288 2011
dbSNP: rs137853837
rs137853837
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
CUI: C0028860
Disease:
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
dbSNP: rs137853837
rs137853837
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
CUI: C0028860
Disease:
Oculocerebrorenal Syndrome 		0.700 GeneticVariation UNIPROT Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. 20133602 2010
dbSNP: rs137853837
rs137853837
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
CUI: C0028860
Disease:
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
dbSNP: rs137853837
rs137853837
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
CUI: C0028860
Disease:
Oculocerebrorenal Syndrome 		0.700 GeneticVariation UNIPROT OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. 10923037 2000
dbSNP: rs137853837
rs137853837
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
CUI: C0028860
Disease:
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
dbSNP: rs137853837
rs137853837
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
CUI: C0028860
Disease:
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
dbSNP: rs137853837
rs137853837
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
CUI: C0028860
Disease:
Oculocerebrorenal Syndrome 		0.700 GeneticVariation UNIPROT Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. 9788721 1998
dbSNP: rs137853837
rs137853837
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
CUI: C0028860
Disease:
Oculocerebrorenal Syndrome 		0.700 GeneticVariation UNIPROT Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. 9682219 1998
dbSNP: rs137853837
rs137853837
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
CUI: C0028860
Disease:
Oculocerebrorenal Syndrome 		0.700 GeneticVariation UNIPROT Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. 9199559 1997