Universal Mutation Database
  Software and databases for mutations in human genes

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GENE(S) DATABASE INSTITUTION
AR Androgen Receptor McGill University (Quebec), Canada
ATM Ataxia-Telangiectasia Virginia Mason Research Center (Seatlle), USA
ATM Ataxia-Telangiectasia A-T Project (Florida), USA
BRCA1 Breast cancer (password required) National Human Genome Research Inst., USA
BTK X-linkeg agammaglobulinaemia University of Helsinki, Finland
CDKN2A Cyclin-dependent kinase inhibitor 2A University of Oslo, Norway
CD40LG CD40L defect database University of Geneva,Switzerland
CFTR Cystic fibrosis Toronto Hospital for Sick Children, Canada
COL1A1,COL1A2,COL3A1 Collagen (type I) Leicester University,UK
CYBB X-linked chronic granulomatous University of disease Helsinki, Finland
DMD Duchenne/Becker muscular dystrophy Leiden University,Holland
EMD Emery-Dreifuss muscular dystrophy Cambridge University,UK
FACA, FACC Fanconi anaemia mutations Rockefeller University(New York), USA
F7 Factor VII Hammersmith Hospital(London), UK
F8C Haemophilia A Hammersmith Hospital(London), UK
F9 Haemophilia B Guy's Hospital(London), UK
G6PD Favism research papers Scripps Research Institute(California), USA
GAA Acid alpha-glucosidase Erasmus University(Rotterdam), Holland
GCH1 GTP cyclohydrolase I deficiency University Children's Hospital (Zurich),Switzerland
GRL Glucocorticoid receptor resource database Georgetown University (Washington), USA
HEXA Hexosaminidase A McGill University (Quebec), Canada
HPRT1 Lesch-Nyhan syndrome University of North Carolina, USA
IL2RG IL2RGbase National Human Genome Research Inst., USA
L1CAM L1 cell adhesion molecule Antwerp University, Belgium
LDLR Familial hypercholesterolaemia University College London, UK
MLH1 International Group on Hereditary Non-Polyposis Colorectal Cancer Amsterdam, Holland
MSH2 International Group on Hereditary Non-Polyposis Colorectal Cancer Amsterdam, Holland
NF1 Neurofibromatosis type I consortium NF1 Consortium, USA
OTC Ornithine transcarbamylase University of Minnesota, USA
PAH Phenylketonuria McGill University (Quebec), Canada
PAX6 PAX6 MRC Unit (Edinburgh), UK
PCBD Pterin-4a-carbinolamine dehydratase deficiency University Children's Hospital (Zurich), Switzerland
PKD1 Polycystic kidney research foundation Genome Database, USA
PTS 6-Pyruvoyl-tetrahydropterin synthase deficiency University Children's Hospital (Zurich), Switzerland
QDPR dihydropteridine reductase deficiency University Children's Hospital (Zurich), Switzerland
RDS Retinal degeneration, slow database University of Iowa, USA
RHO Rhodopsin University of Iowa, USA
TSC2 Tuberous Sclerosis mutation database University of Wales College of Medicine (Cardiff), UK
VWF Von Willebrand disease University of Michigan, USA