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
CRYGC crystallin, gamma C 123680 CRYGC database at LOVD Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
GCH1 GTP cyclohydrolase 1 600225 GTP Cyclohydrolase I deficiency; BIOMED/BIODEF database N. Blau, Univ. Children's Hospital,Zurich, J.L. Dhont- Faculté libre de Médicine,Lille
GCK glucokinase (hexokinase 4) 138079 Monogenic Diabetes Monique Losekoot and Vincent Janmaat
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 600429 GCNT2 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 600234 Innsbruck Metabolic Diseases Pages Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 600119 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 600900 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 601411 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands
SGCE sarcoglycan, epsilon 604149 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 608896 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands
SGCZ sarcoglycan, zeta 608113 Leiden Muscular Dystrophy Pages Johan den Dunnen, LUMC, Leiden, Netherlands

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