Closed
Lowe Syndrome Mutation Database
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| Database name: | |
| Alternative name: | - |
| URL: | |
| Database maintenance site: | National Human Genome Research Institute, National Institute of Health |
| Country/Region: | United States |
| Database description: | This is a database specifically for mutations in the OCRL1 gene, known to cause Lowe syndrome with primary symptoms such as congenital cataracts, mental retardation, and renal tubular acidosis. This site was retired, and all data were transfered to the ClinVar (http://integbio.jp/dbcatalog/en/record/nbdc01514). |
| Organism(s) covered: | |
| Tag - Target: | Genome/Gene, cDNA/EST, Protein, Health/Disease |
| Tag - Information type: | Sequence |
| Reference(s) - PubMed ID/DOI: | - |
| Language(s): | English |
| Operational status: | Closed |
| Link(s) to Downloadable data: | - |
| Link(s) to Metadata of downloadable data: | - |
| Link(s) to Terms of use: | - |
| Link(s) to "How to use": | - |
| Contact information of database: | - |
| Link(s) to API / SPARQL endpoint | - |
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Link to LSDB Archive:
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Link to MEDALS Database list:
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Link to TogoTV:
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Link to FAIRsharing:
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- |
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Similar databases:
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INE HOWDY-R KEGG GENES Database HGMD Cystic Fibrosis Mutation Database HPRD AphidBase dbCFC WhoGA ASPicDB |
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Record maintainer
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Integbio Database Catalog |
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Record source:
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Date of creation of this record:
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2013-06-17 |
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Last update date of this record:
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2020-08-10 |
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Record license:
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Creative Commons CC0 license |