Table 3: Databases containing information specific to a single gene only

Information on these or any other internet-based resources of gene-disease association data should be emailed to databases@hugenet.org.uk

Name of Website

Website URL

Database of Mutations Protein C

http://www.itb.cnr.it/procmd/

Mutation database for X-linked Adrenoleukodystrophy

http://www.x-ald.nl/

Ataxia-Telangiectasia

http://chromium.liacs.nl/lovd/

Vitelliform macular dystrophy mutation database

http://www.uni-wuerzburg.de/humangenetics/vmd2.html

TBX5 Gene Mutation Database

http://www.uni-leipzig.de/~genetik/TBX5/TBX5.htm

Marfan Database

http://www.umd.necker.fr/Site Marfan/01AHOME PAGE.html

Hypercholesterolemia, Familial

http://www.ucl.ac.uk/fh

Cystathionine beta-synthase database

http://www.uchsc.edu/sm/cbs

The Human Short Stature Gene Allelic Variant Database

http://www.shox.uni-hd.de/

ISTH SSC VWF

http://www.shef.ac.uk/vwf

Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database

http://www.sesep.uvsq.fr/Database.html

PHEX Locus database

http://www.phexdb.mcgill.ca/

Database of WS-associated WRN mutations

http://www.pathology.washington.edu/werner/ws_wrn.html

Phenylalanine Hydroxylase Locus Database Home Page

http://www.pahdb.mcgill.ca

Database of the OCRL1 Muations causing Lowe Syndrome

http://www.nhgri.nih.gov/DIR/GDRB/Lowe/

Wilson Disease Mutation Database

http://www.medicalgenetics.med.ualberta.ca/wilson/index.php

Antithrombin III-mutation database

http://www1.imperial.ac.uk/medicine/about/divisions/is/haemo/coag/antithrombin/

Prion Protein- CJD database

http://www.mad-cow.org/~tom/prion_point_mutations.html

A database of muations in the human GNAS1 gene

http://www.le.ac.uk/genetics/maa7/GNAS1/

University Children's Hospital

http://www.kispi.unizh.ch/

Human Genetics Laboratory - Kresge Hearing Research Institute

http://www.khri.med.umich.edu/research/lesperance_lab/lfsnhl.shtml

Adenylosuccinate Lyase Muations Database Home Page

http://www.icp.ucl.ac.be/adsldb/

Galactosaemia

http://www.ich.bris.ac.uk/galtdb/

p53 Database

http://www.ibiblio.org/dnam/des_p53.htm

Autosomal Recessive Polycystic Kidney Disease

http://www.humgen.rwth-aachen.de/

International NF2 mutation database/UK NF2 mutation registry

http://www.hgmd.cf.ac.uk/nf2

TCOF1 Mutation Database

http://www.genoma.ib.usp.br/TCOF1_database

Cystic Fibrosis

http://www.genet.sickkids.on.ca/cftr

RB1 Gene Mutation DB

http://www.d-lohmann.de/Rb/

Cystinuria Mutation Database

http://www.cysdb.mcgill.ca/

Ornithine Transcarbamylase

http://www.cnmcresearch.org/otc/

Calcium Sensing Receptor Databases

http://www.casrdb.mcgill.ca/

Atbase (Ataxia-Telangiectasia)

http://www.biosci.ki.se/ATbase

Ataxia-Telangiectasia

http://www.benaroyaresearch.org/investigators/concannon_patrick/atm.htm

Ataxia-Telangiectasia

http://www.atcp.org/

AKUdatabase

http://www.alkaptonuria.cib.csic.es/index.htm

Albumin mutation database

http://www.albumin.org/

Human FOXL2 Mutation Database

http://users.ugent.be/~dbeysen/foxl2

SV40 large T-antigen Mutants

http://supernova.bio.pitt.edu/pipaslab/

G6PD Deficiency

http://rialto.com/g6pd/

The Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database

http://projects.tcag.ca/lafora

Human PAX6 Allelic Variant Database

http://pax6.hgu.mrc.ac.uk/

Human PAX2 Allelic Variant Database

http://pax2.hgu.mrc.ac.uk/

p53 Mutation Database Analysis and Search

http://p53.hgc.jp/

MLYCD Allelic Variant Database

http://mlycd.hgu.mrc.ac.uk/

The Human FOXL2 allelic variant database

http://medgen.ugent.be/foxl2

GlanzmannThromasthenia Database

http://med.mssm.edu/glanzmanndb/

RettBASE

http://mecp2.chw.edu.au/

eOPA1 (An Online Database for OPA1 Mutations)

http://lbbma.univ-angers.fr/lbbma.php?id=9

The Homo sapiens FMO3 Allelic Variant Database

http://human-fmo3.biochem.ucl.ac.uk/Human_FMO3

HAEdb

http://hae.biomembrane.hu/

CDKN2a Database project no 1 ( a human p16 database with annotation)

http://biodesktop.uvm.edu/perl/p16

Coffin-Lowry Syndrome

http://alsace.u-strasbg.fr/chimbio/diag/coffin/index.html

Factor II Mutation database

http://193.60.222.13/