Locus-Specific Mutation Databases |
A considerable number of locus-specific mutation databases have been constructed and made publically available via the internet. Many of the lesions present in these databases are included in the Human Gene Mutation Database. However, the locus-specific databases may contain additional unpublished material. An article reviewing current locus-specific databases recently appeared in Genome Res (2002) 12: 680-688.
Please note that these sites listed below are not maintained in Cardiff, and that all queries regarding them should be addressed to the curators of the site in question. It should also be noted that inclusion of a site here does not automatically imply that the curators of HGMD have approved either the quality of the site or its contents.
Gene(s) |
Database |
Host Institution |
ABCA4 | ATP-binding cassette transporter retina | Retina International |
ABCC6 | Multidrug resistance-associated protein 6 | Retina International |
ABCC8 | Sulphonylurea receptor | Hôpital Necker-Enfants Malades (Paris), France |
ABCD1 | X-linked adrenoleukodystrophy | Academic Medical Center, Amsterdam, Holland and Kennedy Krieger Institute, Baltimore MD, USA |
ABO | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
ACHE | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
ACTC | FHC mutation database | Australian National Genomic Information Service |
ACTC | Sarcomere gene mutations | Harvard University, USA |
ACVRL1 | Hereditary
hemorrhagic telangiectasia mutation database |
Heriot-Watt University, Edinburgh, UK |
ADA | Adenosine deaminase deficiency | University of Tampere, Finland |
ADRB3 | Beta-3 adrenergic receptor | Tel-Aviv University, Israel |
ADSL | ADSL mutation database | University of Louvain Medical School, Belgium |
AIPL1 | Aryl hydrocarbon receptor-interacting protein-like 1 | Retina International |
ALB | Albumin database | Mary Imogene Bassett Hospital Research Institute, New York, USA |
ALDH1B1 | Aldehyde dehydrogenase | University of Colorado Health Sciences Centre, USA |
ALDH2 | Aldehyde dehydrogenase | University of Colorado Health Sciences Centre, USA |
ALDH3A1, ALDH3A2 | Aldehyde dehydrogenase | University of Colorado Health Sciences Centre, USA |
ALDH4 | Aldehyde dehydrogenase | University of Colorado Health Sciences Centre, USA |
ALDH9 | Aldehyde dehydrogenase | University of Colorado Health Sciences Centre, USA |
ALDOB | Hereditary fructose intolerance | Boston University, USA |
ALG6 | Congenital disorders of glycosylation | Leuven University, Belgium |
ALPL | ALPL mutation database | University of Versailles-Saint Quentin en Yvelines, France |
AMELX | Amelogenesis imperfecta | University of North Carolina, USA |
AP3B1 | Albinism database | University of Minnesota, USA |
APC | Adenomatous
polyposis coli note - currently unavailable |
Mayo Clinic, USA |
APC | Adenomatous
polyposis coli |
Institut Curie (Paris), France |
APC | Adenomatous polyposis coli | Tel-Aviv University, Israel |
APP | Alzheimer disease | Antwerp University, Belgium |
AQP1 | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
AQP2 | Diabetes
insipidus |
McGill University (Quebec), Canada |
AR | Androgen receptor | McGill University (Quebec), Canada |
AT3 | Antithrombin mutation database | Imperial College School of Medicine, London, UK |
ATM | Ataxia-telangiectasia | Virginia Mason Research Center (Seattle), USA |
ATP7B | Wilson disease | University of Alberta, Canada |
ATP7B | Wilson disease | Tel-Aviv University, Israel |
AVP | Diabetes
insipidus |
McGill University (Quebec), Canada |
AVPR2 | Diabetes
insipidus |
McGill University (Quebec), Canada |
BFSP2 | Intermediate Filament Database | Dundee University, UK |
BLM | Bloom syndrome | University of Tampere, Finland |
BRCA1 | Breast
cancer note - password required |
National Human Genome Research Institute., USA |
BTK | X-linked agammaglobulinaemia | University of Tampere, Finland |
CACNA1F | L-type calcium-channel gene | Retina International |
CAPN3 | Leiden muscular dystrophy pages | Leiden University, Holland |
CARD15 | Infevers | National Centre for Scientific Research, France |
CASR | Calcium sensing receptor mutation database | McGill University (Quebec), Canada |
CAV3 | Leiden muscular dystrophy pages | Leiden University, Holland |
CBS | Cystathionine beta-synthase page | University of Colorado Health Sciences Centre, USA |
CD3E | CD3epsilon deficiency | University of Tampere, Finland |
CD3G | CD3gamma deficiency | University of Tampere, Finland |
CDK4 | eMelanoBase | Westmead Millennium Institute, Australia |
CDKN2A | Cyclin-dependent kinase inhibitor 2A | University of Oslo, Norway |
CDKN2A | eMelanoBase | Westmead Millennium Institute, Australia |
CDKN2A | CDKN2a Database Project | University of Vermont, USA |
CFTR | Cystic fibrosis | Toronto Hospital for Sick Children, Canada |
CHM | Rab escort protein 1 | Retina International |
CHS1 | Albinism database | University of Minnesota, USA |
CHS1 | Chediak-Higashi syndrome | Retina International |
CIAS1 | Infevers | National Centre for Scientific Research, France |
CLN2, CLN3, CLN5, CLN8, PPT1 (CLN1) | Neuronal ceroid lipofuscinoses | University College London, UK |
CLN3 | Ceroid lipofuscinosis | Retina International |
CNGA1 | Cyclic nucleotide-gated cation channel | Retina International |
CNGA3 | Cyclic nucleotide-gated cation channel | Retina International |
COL1A1, COL1A2, COL3A1 | Collagen (types I and III) | Leicester University, UK |
CRB1 | Crumbs homologue 1 | Retina International |
CRX | Cone rod homeobox | Retina International |
CSX | Heart disease | Tel-Aviv University, Israel |
CYBA | Chronic granulomatous disease | University of Tampere, Finland |
CYBB | X-linked chronic granulomatous disease | University of Tampere, Finland |
CYP1A1, CYP1A2, CYP1B1 | Cytochrome P450 allele nomenclature committee | Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden |
CYP2A6, CYP2B6, CYP2C9, CYP2D6, CYP2E1 | Cytochrome P450 allele nomenclature committee | Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden |
CYP21A2 | Cytochrome P450 allele nomenclature committee | Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden |
CYP3A4, CYP3A5 | Cytochrome P450 allele nomenclature committee | Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden |
CYP5A1 | Cytochrome P450 allele nomenclature committee | Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden |
CYP8A1 | Cytochrome P450 allele nomenclature committee | Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden |
DES | Intermediate Filament Database | Dundee University, UK |
DMD | Leiden muscular dystrophy pages | Leiden University, Holland |
DO | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
DPM1 | Congenital disorders of glycosylation | Leuven University, Belgium |
DYSF | Leiden muscular dystrophy pages | Leiden University, Holland |
EFEMP1 | EGF-containing fibulin-like extracellular matrix protein 1 | Retina International |
EGR2 | Inherited peripheral neuropathies | University of Antwerp, Belgium |
EMD | Emery-Dreifuss muscular dystrophy | Cambridge University, UK |
ENAM | Amelogenesis imperfecta | University of North Carolina, USA |
ENG | Hereditary
hemorrhagic telangiectasia mutation database |
Heriot-Watt University, Edinburgh, UK |
FANCA, FANCC | Fanconi anaemia | Rockefeller University (New York), USA |
FBN1 | Marfan database | Hôpital Necker-Enfants Malades (Paris), France |
FGA, FGB, FGG | Fibrinogen variants | Study Group on Haemostasis and Thrombosis, France |
FOXL2 | FOXL2 allelic variants | Centre for Medical Genetics, Belgium |
FUT1, FUT2, FUT3 | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
FY | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
F7 | Factor VII | Hammersmith Hospital (London), UK |
F8 | Haemophilia A | Hammersmith Hospital (London), UK |
F9 | Haemophilia B | Guy's Hospital (London), UK |
G6PD | G6PD mutations | Reading University BioInformatics Consortium |
G6PD | Favism
research papers |
Scripps Research Institute (California), USA |
GAA | Acid alpha-glucosidase | Erasmus University (Rotterdam), Holland |
GALC | Krabbe disease | Tel-Aviv University, Israel |
GALT | GALT database | Institute of Child Health (Bristol), UK |
GALT | GALT analysis database | University of Utah, Department of Pathology and ARUP Institute for Experimental Pathology |
GAN | Inherited peripheral neuropathies | University of Antwerp, Belgium |
GBA | Gaucher disease | Tel-Aviv University, Israel |
GCH1 | GTP cyclohydrolase I deficiency | University Children's Hospital, Zurich, Switzerland |
GCS1 | Congenital disorders of glycosylation | Leuven University, Belgium |
GJB1 | Inherited peripheral neuropathies | University of Antwerp, Belgium |
GJB2 | Connexin 26 homepage | Cancer Research Institute, Spain |
GJB2 | Hearing loss | Tel-Aviv University, Israel |
GM2A | GM2 gangliosidosis | McGill University (Quebec), Canada |
GNAS1 | Albright hereditary osteodystrophy | National Institutes of Health, Bethesda, Maryland, USA |
GNAS1 | GNAS1 mutation database | Leicester University, UK |
GNAT1 | Transducin subunit | Retina International |
GP1BB | Bernard-Soulier syndrome | Royal College of Surgeons, Ireland |
GP9 | Bernard-Soulier syndrome | Royal College of Surgeons, Ireland |
GUCA1A, GUCY2D | Retinal guanylate cyclases | Retina International |
GYPA | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
HBB | DENiZ | Fatih University, Istanbul, Turkey |
HEXA | Hexosaminidase A | McGill University (Quebec), Canada |
HEXA | Tay-Sachs disease | Tel-Aviv University, Israel |
HEXB | Hexosaminidase B | McGill University (Quebec), Canada |
HGD | AKU database | Centro de Investigaciones Biológicas, Madrid, Spain |
HGD | HGD mutation database | Institute for clinical and translational research, Bratislava, Slovak Republic |
HPRT1 | Lesch-Nyhan syndrome | University of North Carolina, USA |
HPS | Albinism database | University of Minnesota, USA |
HPS | Hermansky-Pudlak syndrome | Retina International |
HSD3B2 | Adrenal hyperplasia | Tel-Aviv University, Israel |
IGH, IGK, IGL | Immunoglobulins | IMGT, Montpellier II University, France |
IL2RG | IL2RGbase | National Human Genome Research Inst., USA |
ITGA2B, ITGB3 | Glanzmann thrombasthenia database | Mount Sinai School of Medicine, New York, USA |
JAK3 | Severe combined JAK3 deficiency | University of Tampere, Finland |
JUP | Gene
connection for the heart |
Fondazione Salvatore Maugeri, Pavia, Italy |
KEL | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
KCNE1, KCNE2, KCNH2, KCNQ1 | Long QT syndrome | Statens Serum Institut, Denmark |
KCNE1, KCNE2, KCNH2, KCNQ1 | Gene
connection for the heart |
Fondazione Salvatore Maugeri, Pavia, Italy |
KCNE1, KCNH2, KCNQ1 | Long QT syndrome | Tel-Aviv University, Israel |
KCNQ4 | Hearing loss | Tel-Aviv University, Israel |
KRT1, KRT2E, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT7, KRT8, | Intermediate Filament Database | Dundee University, UK |
KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT18 | Intermediate Filament Database | Dundee University, UK |
KRTHB1, KRTHB6 | Intermediate Filament Database | Dundee University, UK |
L1CAM | L1 cell adhesion molecule | University of Groningen, Netherlands |
LDLR | Familial hypercholesterolaemia | University College London, UK |
LDLR | Familial hypercholesterolaemia | Hôpital Necker-Enfants Malades (Paris), France |
LMNA | Intermediate Filament Database | Dundee University, UK |
LMNA | Leiden muscular dystrophy pages | Leiden University, Holland |
LTA | Cytokine gene polymorphism in human disease | University of Bristol, UK |
MECP2 | Rett syndrome | Edinburgh University, UK |
MECP2 | RettBASE | Children's Hospital, Westmead, Australia |
MECP2 | Rett syndrome | Tel-Aviv University, Israel |
MEFV | Infevers | National Centre for Scientific Research, France |
MEFV | Mediterranean fever | Tel-Aviv University, Israel |
MEN1 | Multiple endocrine neoplasia 1 | Hôpital Necker-Enfants Malades (Paris), France |
MGAT2 | Congenital disorders of glycosylation | Leuven University, Belgium |
MLH1 | International Group on Hereditary Non-Polyposis Colorectal Cancer | Amsterdam, Holland |
MLYCD | MLYCD database | MRC Unit (Edinburgh), UK |
MPI | Congenital disorders of glycosylation | Leuven University, Belgium |
MPZ | Inherited peripheral neuropathies | University of Antwerp, Belgium |
MSH2, MSH6 | International Group on Hereditary Non-Polyposis Colorectal Cancer | Amsterdam, Holland |
MTMR2 | Inherited peripheral neuropathies | University of Antwerp, Belgium |
MVK | Infevers | National Centre for Scientific Research, France |
MYBPC3 | FHC mutation database | Australian National Genomic Information Service |
MYBPC3 | Sarcomere gene mutations | Harvard University, USA |
MYH7 | FHC mutation database | Australian National Genomic Information Service |
MYH7 | Sarcomere gene mutations | Harvard University, USA |
MYL2, MYL3 | FHC mutation database | Australian National Genomic Information Service |
MYL2, MYL3 | Sarcomere gene mutations | Harvard University, USA |
MYO7A | Myosin VIIa | Retina International |
NAGLU | Sanfilippo syndrome type B | University of Minnesota, USA |
NAT1, NAT2 | Arylamine N-acetyltransferases | University of Louisville, Kentucky, USA |
NBS1 | Nijmegen breakage syndrome | Virginia Mason Research Center (Seattle), USA |
NCF1 | Chronic granulomatous disease | University of Tampere, Finland |
NCF2 | Chronic granulomatous disease | University of Tampere, Finland |
NDP | Norrin | Retina International |
NDRG1 | Inherited peripheral neuropathies | University of Antwerp, Belgium |
NEF3 | Intermediate Filament Database | Dundee University, UK |
NEFH | Intermediate Filament Database | Dundee University, UK |
NEFL | Intermediate Filament Database | Dundee University, UK |
NEFL | Inherited peripheral neuropathies | University of Antwerp, Belgium |
NF1 | NF1 International Mutation Database | NF1 Consortium, USA |
NF2 | Neurofibromatosis
type 2 mutations non-functional |
Massachusetts General Hospital, Boston, USA |
NF2 | International
NF2 mutation database |
Los Angeles, USA |
NF2 | United
Kingdom NF2 registry |
Manchester, UK |
not56l | Congenital disorders of glycosylation | Leuven University, Belgium |
NR2E3 | Photoreceptor cell-specific nuclear receptor | Retina International |
NRL | Neuroretina-linked leucine zipper | Retina International |
NTRK1 | Inherited peripheral neuropathies | University of Antwerp, Belgium |
NYX | Nyctalopin | Retina International |
OA1 | Albinism database | University of Minnesota, USA |
OA1 | Ocular albinism | Retina International |
OCA2 | Albinism database | University of Minnesota, USA |
OCA2 | P gene | Retina International |
OCRL | Lowe syndrome mutation database | The National Human Genome Research Institute, Bethesda, USA |
OPA1 | eOPA1 | Angers University, France |
OPN1LW | Red cone pigment | Retina International |
OPN1MW | Green cone pigment | Retina International |
OPN1SW | Blue cone pigment | Retina International |
OTC | Ornithine transcarbamylase deficiency | University of Minnesota, USA |
PAH | Phenylketonuria | McGill University (Quebec), Canada |
PAX2 | PAX2 database | MRC Unit (Edinburgh), UK |
PAX6 | PAX6 database | MRC Unit (Edinburgh), UK |
PCBD | Pterin-4a-carbinolamine dehydratase deficiency | University Children's Hospital (Zurich), Switzerland |
PCCA | PCC Pages | University of Colorado Health Sciences Centre, USA |
PCCB | PCC Pages | University of Colorado Health Sciences Centre, USA |
PDC | Phosducin | Retina International |
PDE6A, PDE6B | Phosphodiesterase type 6 | Retina International |
PHEX | PHEX locus database | McGill University (Quebec), Canada |
PDK1, PKD2 | ADPKD Mutation Database | Mayo Clinic, USA |
PKHD1 | Autosomal Recessive Polycystic Kidney Disease | Aachen University, Germany |
PLP | Proteolipid
protein mutations |
Wayne State University, Detroit, Michigan, USA |
PMM2 | Congenital Disorders of Glycosylation | Leuven University, Belgium |
PMP22 | Inherited peripheral neuropathies | University of Antwerp, Belgium |
PMS1, PMS2 | International Group on Hereditary Non-Polyposis Colorectal Cancer | Amsterdam, Holland |
POU4F3 | Hearing loss | Tel-Aviv University, Israel |
PPT1 | Palmitoyl-protein thioesterase | Retina International |
PPT1 | Neuronal ceroid lipofuscinoses | University College London, UK |
PRKCG | Protein kinase C gamma | Retina International |
PRNP | Prion Protein/CJD database | Sperling Biomedical Foundation (Oregon), USA |
PROC | Protein C database | Academic Medical Centre, University of Amsterdam, Holland |
PROS1 | Protein S database | University of North Carolina, USA |
PROML1 | Prominin (mouse)-like 1 | Retina International |
PRSS1 | Chronic pancreatitis | University of Leipzig, Germany |
PSAP | Gaucher disease | Tel-Aviv University, Israel |
PSEN1, PSEN2 | Alzheimer disease | Antwerp University, Belgium |
PSTPIP1 | Infevers | National Centre for Scientific Research, France |
PTCH |
PTCH mutation database | Karolinska Institutet, Sweden |
PTS | 6-Pyruvoyl-tetrahydropterin synthase deficiency | University Children's Hospital (Zurich), Switzerland |
QDPR | Dihydropteridine reductase deficiency | University Children's Hospital (Zurich), Switzerland |
RAG1 | RAG1 deficiency | University of Tampere, Finland |
RAG2 | RAG2 deficiency | University of Tampere, Finland |
RB1 | RB1 database | Universitaetsklinikum Essen, Germany |
RBP4 | Retinol-binding protein 4 | Retina International |
RDH5 | 11-cis retinol dehydrogenase | Retina International |
RDS | Retinal degeneration, slow database | University of Iowa, USA |
RDS | RDS/Peripherin | Retina International |
RGR | RPE-retinal G-protein-coupled receptor | Retina International |
RHAG, RHCE, RHD | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
RHO | Rhodopsin | University of Iowa, USA |
RHO | Rhodopsin | Retina International |
RHOK | Rhodopsin kinase | Retina International |
RLBP1 | Cellular
retinaldehyde-binding protein note - URL not functional | Retina International |
ROM1 | Rod outer membrane protein 1 | Retina International |
RP1 | Retinitis pigmentosa 1 | Retina International |
RP2 | Retinits pigmentosa 2 | Retina International |
RPE65 | Retinal pigment epithelium specific protein | Retina International |
RPGR | Retinitis pigmentosa GTPase regulator | Retina International |
RPS6KA3 | Coffin-Lowry syndrome | University of Strasbourg, France |
RS1 | Retinoschisis database | Leiden University, Holland |
RS1 | X-linked retinoschisis | Retina International |
RYR2 | Gene
connection for the heart |
Fondazione Salvatore Maugeri, Pavia, Italy |
SAG | Arrestin | Retina International |
SCN5A | Long QT syndrome | Statens Serum Institut, Denmark |
SCN5A | Long QT syndrome | Tel-Aviv University, Israel |
SCN5A | Gene
connection for the heart |
Fondazione Salvatore Maugeri, Pavia, Italy |
SDHA | Leiden Open Variation Database | Leiden University, Holland |
SDHB | Leiden Open Variation Database | Leiden University, Holland |
SDHC | Leiden Open Variation Database | Leiden University, Holland |
SDHD | Leiden Open Variation Database | Leiden University, Holland |
SERPING1 | HAEdb | Institute of Haematology and Immunology, Budapest, Hungary |
SGCA | Sarcoglycan-alpha database | Leiden University, Holland |
SGCB | Sarcoglycan-beta database | Leiden University, Holland |
SGCD | Sarcoglycan-delta database | Leiden University, Holland |
SGCG | Sarcoglycan-gamma database | Leiden University, Holland |
SH2D1A | Lymphoproliferative syndrome | University of Tampere, Finland |
SHOX | Short stature gene variant database | University of Heidelberg, Germany |
SLC3A1 | Cystinuria mutation database | McGill University (Quebec), Canada |
SLC4A1 | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
SLC14A1 | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
SOD1 | SOD1 mutations | ALS consortium |
SPINK1 | Chronic pancreatitis | University of Leipzig, Germany |
TCAP | Leiden muscular dystrophy pages | Leiden University, Holland |
TCOF1 | TCOF1 mutation database | Human Genome Research Centre, São Paulo, Brazil |
TIMP3 | Tissue inhibitor of metalloproteinase 3 | Retina International |
TNF | Cytokine gene polymorphism in human disease | University of Bristol, UK |
TNFRSF1A | Infevers | National Centre for Scientific Research, France |
TNFSF5 | CD40L defect database | University of Geneva, Switzerland |
TNFSF5 | CD40L database | University of Tampere, Finland |
TNNI3 | FHC mutation database | Australian National Genomic Information Service |
TNNI3 | Sarcomere gene mutations | Harvard University, USA |
TNNT2 | FHC mutation database | Australian National Genomic Information Service |
TNNT2 | Sarcomere gene mutations | Harvard University, USA |
TP53 | p53 | University of North Carolina, USA |
TP53 | p53
note - permission required |
Mayo Clinic, USA |
TP53 | p53 | Human Genome Center (Tokyo), Japan |
TP53 | p53 | Institut Curie (Paris), France |
TP53 | p53 | International Agency for Research on Cancer (Lyon), France |
TP53 | p53 | Charles University, Prague, Czech Republic |
TPM1 | FHC mutation database | Australian National Genomic Information Service |
TPM1 | Sarcomere gene mutations | Harvard University, USA |
TRA, TRB, TRG, TRD | T cell receptors | IMGT, Montpellier II University, France |
TSC1, TSC2 | Tuberous sclerosis variation database | Brigham and Women's Hospital and Harvard Medical School, USA |
TSC2 | Tuberous sclerosis mutation database | University of Wales College of Medicine (Cardiff), UK |
TSHR | TSH-receptor mutation database | University of Leipzig, Germany |
TTID | Leiden muscular dystrophy pages | Leiden University, Holland |
TTN | FHC mutation database | Australian National Genomic Information Service |
TTR | Transthyretin
note - URL not functional |
Institute for Molecular and Cell Biology, Universidade do Porto, Portugal |
TULP1 | Tubby-like protein 1 | Retina International |
TYR | Albinism database | University of Minnesota, USA |
TYR | Tyrosinase | Retina International |
TYRP1 | Albinism database | University of Minnesota, USA |
TYRP1 | Tyrosinase-related protein 1 | Retina International |
USH2A | Usher syndrome 2A | Retina International |
VHL | Von Hippel-Lindau disease | University of Birmingham, UK |
VHL | Von Hippel-Lindau disease | Hôpital Necker-Enfants Malades (Paris), France |
VMD2 | Vitelliform macular dystropy | University of Wuerzburg, Germany |
VMD2 | Bestrophin | Retina International |
VWF | Von Willebrand disease | University of Sheffield, UK |
WFS1 | WFS1 gene mutation and polymorphism database | Kresge Hearing Research Institute, University of Michigan, USA |
WRN | Werner syndrome mutation database | University of Washington-Seattle, USA |
WT1 | Wilm's tumour database | Hôpital Necker-Enfants Malades (Paris), France |
XK | Blood group antigen mutation database | Albert Einstein College of Medicine, New York, USA |
ZAP70 | ZAP70 deficiency | University of Tampere, Finland |
ZFHX1B | ZFHX1B Mutation Database | University of Friedrich-Alexander, Germany |
Intermediate filament mutation database | Dundee University, UK | |
Neuromuscular disease centre | Washington University School of Medicine, St. Louis, USA | |
Globin gene server | Pennsylvania University, USA | |
Eye
disease mutation database (KMeyeDB) note - registration required |
Keio University School of Medicine, Tokyo, Japan | |
Heart
disease mutation database (KMheartDB) note - registration required |
Keio University School of Medicine, Tokyo, Japan | |
Ear
disease mutation database (KMearDB) note - registration required |
Keio University School of Medicine, Tokyo, Japan | |
Brain
disease mutation database (KMbrainDB) note - registration required |
Keio University School of Medicine, Tokyo, Japan | |
Cancer
mutation database (KMcancerDB) note - registration required |
Keio University School of Medicine, Tokyo, Japan | |
M6P/IGF2R | GeneImprint | |
Skin disease mutation
database note - URL not functional |
University of North Carolina, USA | |
G-Protein coupled receptors | Tromso, Norway | |
G-Protein coupled receptors | National Institute of Health (Bethesda), USA | |
G-Protein coupled receptors | Radboud University (Nijmegen), Netherlands | |
G-Protein coupled receptors (RINGdb) | National Central University, Taiwan | |
Mutation spectra database for bacterial and mammalian genes | Yale University (Connecticut), USA | |
Thalassemia database | Prince of Songkla University, Thailand | |
Chaperonin (GroES, GroEL) | University of Texas (San Antonio), USA | |
Asthma gene database
note - password required |
GSF National Center (Munich), Germany | |
Glucocorticoid receptor resource database | Georgetown University (Washington), USA | |
Deafness gene mutation database | Harvard University, USA | |
Serpin database | Cambridge Institute for Medical Research, UK | |
The Singapore Human Mutation And Polymorphism Database | Bioinformatics Institute, A*STAR, Singapore | |
Esther (cholinesterases) | The Agro Montpellier, France |
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