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Genes are in order of HUGO APPROVED GENE DESIGNATION not alias. e.g. "p53" will be found under "TP53" while "CD40L" or "TNFSF5" will be found under "CD40LG" and so on. If you wish to find an Approved gene symbol please select HGNC Search. If your gene is not in these lists, you may like to check the "Disease Centered", "Mitochondrial Mutations" or "Other mutation Databases" database links as it may be in one of those. If you wish to add an LSDB please go to the LSDB Submission Page Please note that some LSDBs have a Curator vacancy - if you would like to serve please contact the acting curator via that database. |
| HGNC GENE SYMBOL | HGNC gene description | OMIM NO | DATABASE NAME/INTERNET ADDRESS | CURATORS |
|---|---|---|---|---|
| BFSP1 | beaded filament structural protein 1, filensin | 603307 | BFSP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre |
| CASP10 | caspase 10, apoptosis-related cysteine peptidase | 601762 | CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| CASP10 | caspase 10, apoptosis-related cysteine peptidase | 601762 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| GPRASP1 | G protein-coupled receptor associated sorting protein 1 | 300417 | GPRASP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SP110 | SP110 nuclear body protein | 604457 | SP110base: Mutation registry for Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| USP11 | ubiquitin specific peptidase 11 | 300050 | USP11 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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