IMPORTANT NOTE:  

 

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.

 

A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
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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