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 Marseille, and that all queries regarding them should be addressed to the curators of the site in question.

Marfan Syndrome And Associated Pathologies genes (actionable genes included)

UMD-ACTA2 (SMC alpha actin). Curator: G. Collod-Béroud

UMD-FBN1 (fibrillin 1). Curator: G. Collod-Béroud

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

UMD-MYH11 (beta-myosin heavy chain). Curator: G. Collod-Béroud

UMD-MYLK (myosin light chain kinase). Curator: G. Collod-Béroud

UMD-SMAD3 (mothers against decapentaplegic homolog 3). Curator: G. Collod-Béroud

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

UMD-TGFBR2 (transforming growth factor beta receptor II). Curator: G. Collod-Béroud


Dystonia genes

UMD-THAP1 (THAP domain containing, apoptosis associated protein 1). Curator: G. Collod-Béroud


Genes involved in cancer

UMD-APC (adenomatosis polyposis coli). Curators: S. Olschwang, P. Grandval and A. Fabre,

UMD-BRCA1 (breast cancer 1). Curators: E. Rouleau and S. Caputo

UMD-BRCA2 (breast cancer 2). Curators: E. Rouleau and S. Caputo

UMD-MEN1 (multiple endocrine neoplasia 1). Curator: A. Mohamed

UMD-MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)). Curator: S. Olschwang, P. Grandval and A. Fabre,

UMD-MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)). Curator: S. Olschwang, P. Grandval and A. Fabre,

UMD-MSH6 (mutS homolog 6 (E. coli)). Curator: S. Olschwang, P. Grandval and A. Fabre,

UMD-MUTYH (mutY homolog (E. coli)). Curator: S. Olschwang, P. Grandval and A. Fabre,

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 tumor suppressor, E3 ubiquitin protein ligase - von Hippel-Lindau syndrome). Curator: C. Béroud


Human genetic diseases

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

UMD-CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)). Curator: Corinne Theze

UMD-CSA (ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)). Curator: V.Laugel

UMD-CSB (ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)). Curator: V.Laugel

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

UMD-DFNB1-GJB2 (gap junction protein, beta 2, 26kDa (connexin 26)). Restricted access. This database is no longer maintained. For new release, go to LOVD databases

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

UMD-DNM2 (dynamin 2). Curator: M. Bitoun

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

UMD-DYSF (dysferlin - dysferlinopathies). Curator: G. Blandin

UMD-EMD (emerin). Curator: G. Bonne

UMD-F7 (inherited factor VII deficiency). Curator: M. Giansily-Blaizot

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

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

UMD-SMN1 (survival of motor neuron 1). Curators: P. Faure and A. Totoescu

Genes involved in Usher syndrome (Myo7A, USH1C, CDH23, PCDH15, USH1G, USH2A, USH3A). These databases are no longer maintained. For new releases, go to LOVD databases