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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 |
---|---|---|---|---|
HPRT1 | hypoxanthine phosphoribosyltransferase 1 | 308000 | Hypoxanthine Guanine Phosphoribosyltransferase 1; Lech-Nyhan Syndrome | Neil Cariello, Univ. Nth Carolina, USA |
HPS1 | Hermansky-Pudlak syndrome 1 | 604982 | Albinism Database | William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA |
HPS1 | Hermansky-Pudlak syndrome 1 | 604982 | Mutations of the ep-Gene | Retina International |
HPS1 | Hermansky-Pudlak syndrome 1 | 604982 | Mutations of the HPS Gene | Retina International |
HPS3 | Hermansky-Pudlak syndrome 3 | 606118 | Albinism Database | William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA |
HPS3 | Hermansky-Pudlak syndrome 3 | 606118 | Hermansky-Pudlak syndrome 3 (HPS3) | LOVD-team, but with Curator vacancy and William (Bill) Oetting |
HPS3 | Hermansky-Pudlak syndrome 3 | 606118 | Mutations of the HPS3 Gene | Retina International |
HPS4 | Hermansky-Pudlak syndrome 4 | 606682 | Mutations of the Human light ear Gene (le, HPS4) | Retina International |
HPS4 | Hermansky-Pudlak syndrome 4 | 606682 | Hermansky-Pudlak syndrome 4 (HPS4) | LOVD-team, but with Curator vacancy and William (Bill) Oetting |
HPS5 | Hermansky-Pudlak syndrome 5 | 607521 | Hermansky-Pudlak syndrome 5 (HPS5) | LOVD-team, but with Curator vacancy and William (Bill) Oetting |
HPS6 | Hermansky-Pudlak syndrome 6 | 607522 | Hermansky-Pudlak syndrome 6 (HPS6) | LOVD-team, but with Curator vacancy and William (Bill) Oetting |
HPSE2 | heparanase 2 | 613469 | heparanase 2 (HPSE2) | LOVD-Team, but with (acting), Curator vacancy |
NHP2 | NHP2 ribonucleoprotein homolog (yeast) | 606470 | The Telomerase Database | Julian J-L Chen at Arizona State University |
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