The UMD website UMD Locus Specific DataBases

Many locus-specific mutation databases have been constructed and made publically available via the internet. An exhaustive list of LSDBs can be found at the HGVS. The following UMD LSDBs can be querry directly via internet. Because of their common designed a cross-search can be performed using the new UMD Central tool Please note that the sites listed below are not maintained in Montpellier, and that all queries regarding them should be addressed to the curators of the site in question.

Genes involved in cancer

  UMD-APC (Adenomatosis Polyposis Coli). Curators: C. Béroud and T. Soussi

  UMD-BRCA1 (breast cancer 1). Curator: R. Lidereau

  UMD-BRCA2 (breast cancer 2). Curator: R. Lidereau

  UMD-MEN1(Multiple endocrine neoplasia1). Curator: A Calender

  UMD-TGFBR2 (transforming growth factor beta receptor II - Cancers, Marfan syndrome, Loeys-Dietz syndrome and Familial Thoracic Aortic Aneurysms and Dissections "TAAD2"). Curator: G. Collod-Béroud

  UMD-TP53 (tumor protein p53). Curator: T. Soussi

  UMD-VHL (von Hippel Lindau syndrome). Curator: C. Béroud

Human genetic diseases

  UMD-ATP7B (ATPase, Cu++ transporting, beta polypeptide - Wilson disease). Curator: I. Ceballos

  UMD-CSA (ERCC8). Curator: V.Laugel

  UMD-CSB (ERCC6). Curator: V.Laugel

  UMD-COL3A1 (collagen, type III, alpha 1). Curator: P. Khau van Kien

  UMD-DFNB1-GJB2 (gap junction protein, beta 2, 26kDa (connexin 26)). Curators: A.F. Roux and D.Baux

  UMD-DMD (dystrophin). Curators: S. Tuffery-Giraud, F. Leturcq, R. Ben Yaou and V. Humbertclaude

  UMD-DPYD (dihydropyrimidine dehydrogenase disease). Curator: JC. Boyer

  UMD-EMD (emerin). Curator: G. Bonne

  UMD-FBN1 (Fibrillin 1 - Marfan syndrome and related disorders). Curator: G. Collod-Béroud

  UMD-FBN2 (fibrillin 2 - congenital contractural arachnodactyly). Curator: G. Collod-Béroud

  UMD-LDLR (Low density lipoprotin receptor). Curators: M. Varret and C. Boileau

  UMD-LMNA (Lamin A/C). Curator: G. Bonne

  UMD-TGFBR1 (transforming growth factor beta receptor I ). Curator: G. Collod-Béroud

  UMD-TGFBR2 (transforming growth factor beta receptor II - Cancers, Marfan syndrome, Loeys-Dietz syndrome and Familial Thoracic Aortic Aneurysms and Dissections "TAAD2"). Curator: G. Collod-Béroud

  Genes involved in Usher syndrome - UMD-USHbases. (MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, USH3A). Curators: A.F. Roux and D.Baux