| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. | 21031565 | 2011 |
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|
0.700 | GeneticVariation | UNIPROT | The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway. | 21233288 | 2011 |
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|
0.700 | GeneticVariation | UNIPROT | Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. | 20133602 | 2010 |
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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 |
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|
0.700 | GeneticVariation | UNIPROT | OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. | 10923037 | 2000 |
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|
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 |
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|
0.700 | GeneticVariation | UNIPROT | Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. | 9632163 | 1998 |
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|
0.700 | GeneticVariation | UNIPROT | Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. | 9682219 | 1998 |
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|
0.700 | GeneticVariation | UNIPROT | Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. | 9788721 | 1998 |
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0.700 | GeneticVariation | UNIPROT | Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. | 9199559 | 1997 |