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|
Locus Specific Mutation Databases |
Last Updated 13 February 2004 |
| A to F | G | H | I | J | K | L to P | Q to Z |
| GENE
DESIGNATION/ OMIM No. |
DATABASE
NAME
|
INTERNET
ADDRESS
|
CURATOR/S |
|---|---|---|---|
| G6PD 305900 No1. |
G6PD
Mutations
|
Colin Kwok |
|
| G6PD 305900 No2. |
Glucose-6-Phosphate
-dehydrogenase |
E.
Beutler -Scripps California T. Vulliamy -RPMS, London L. Luzzato -Dep Hum, Gen. NY,NY |
|
| GAA 232300 |
Glycogen
Storage Disease
Type II,GSDII, Pompe Disease Lysosomal a-glucosidase Deficiency |
A.J. J. Reuser |
|
| GALB 104170 |
Mutations
in the
a-N-Acetylgalactosaminidase gene causing Schindler disease |
ENCOURAGED BY HUGO/MDI |
Kenneth
H. Astrin Robert J. Desnick Dept. of Human Genetics Mt Sinai School of Medicine New York, U.S.A |
| GALC 245200 |
Krabbe
Disease
at GeneDis |
Gideon Bach, Dept. Human Genetics, Sch Med, Tel-Aviv Univ, Israel Rachel Kreisberg-Zakarin, Bioinformatics Unit, Tel-Aviv Univ, Israel |
|
| GALNS 253000 |
Mucopolysaccharidosis
|
Chester
B.Whitley Univ. of Minnesota |
|
| GALT 230400 No 1. |
Galactosaemia
|
Linda
Tyfield David Carmichael Inst. Child Health, Univ. Bristol, Bristol |
|
| GALT 230400 No. 2 |
Galactose-1-Phosphate Uridyl Transferase Mutation Analysis Database Research |
Kent
Lai Sharon D Langley Louis J Elsas Dept. Paediatrics Div. Med.Genetics Emory University Atlanta U.S.A |
|
| GAN 605379 |
Mutation
Database of Inherited Peripheral Neuropathies
ENCOURAGED BY HUGO/MDI |
Eva
Nelis Univ. of Antwerp Antwerp, Belgium |
|
| GBA 230800 |
Gaucher
Disease at GeneDis
ENCOURAGED BY HUGO/MDI |
Metsada Pasmanik-Chor, Mia Horowitz Dept. Cell Research and Immunology, Tel-Aviv Univ, Israel Rachel Kreisberg-Zakarin, Bioinformatics Unit, Tel-Aviv Univ, Israel Ernest Beutler, Scripps Res Inst, LaJolla CA, USA | |
| GCH1 600225 |
GTP
Cyclohydrolase
I deficiency -BIOMED/BIODEF database |
N.
Blau -Univ. Children's Hospital, Zurich J.L. Dhont - Faculté libre de Médicine, Lille I. Dianzani | |
| GCS1 601336 |
Congenital
Disorder of Glycosylation pages
ENCOURAGED BY HUGO/MDI |
Gert
Matthijs Center for Human Genetics Leuven, Belgium |
|
| GDAP1 606598 |
Mutation
Database of Inherited Peripheral Neuropathies
ENCOURAGED BY HUGO/MDI |
Eva
Nelis Univ. of Antwerp Antwerp, Belgium |
|
|
GM2A |
GM2A
Locus Database
|
F. Kaplan Paulo Cordeiro McGill University Montreal Canada |
|
|
GJA1 121014 |
Hereditary
Hearing
Loss Homepage |
Guy
van Camp Univ. of Antwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
| GJB1 304040 No. 1 |
Mutation
Database of Inherited Peripheral Neuropathies
ENCOURAGED BY HUGO/MDI |
Eva
Nelis Univ. of Antwerp Antwerp, Belgiu |
|
|
GJB1 |
The
Connexin-deafness homepage
|
Kelly
Rabionet P. Gasparini P Xavier Estivill Mol. & Med. Genetics Cntr-IRO, Spain |
|
|
GJB2 No. 1 |
Hereditary
Hearing
Loss Homepage |
Guy
van Camp Univ. of Antwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
|
GJB2 No.2 |
Hereditary
Hearing
Loss at GeneDis |
Karen Avraham, Noa Davis, Dept. Hum Gen, Sch Med, Tel-Aviv Univ, Israel Rachel Kreisberg-Zakarin, Bioinformatics Unit, Tel-Aviv Univ, Israel | |
|
GJB2 121011 No.3 GJB3 GJB6 |
The
Connexin-deafness homepage
|
Kelly
Rabionet P. Gasparini P Xavier Estivill Mol. & Med. Genetics Cntr-IRO, Spain |
|
|
GJB3 603324 No. 2 GJB6 |
Hereditary
Hearing
Loss Homepage |
Guy
van Camp Univ. of Antwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
|
| GNAS1 139320 No. 1 |
A database of mutations in the human GNAS1 gene ENCOURAGED BY HUGO/MDI |
Micheala
A. Aldred Molecular Genetics Dept. Leicester Royal Infirmary Leicester, U.K. |
|
|
GNAS1 No. 2 |
GNAS1
Mutations in Albright Hereditary Osteodystrophy
|
Lee
S. Weinstein Metabolic Diseases Branch Bethesda MD U.S.A. |
|
|
GP1BB GP9 |
Bernard-Soulier
Syndrome database |
Royal College
of Surgeons Ireland |
|
| GRL 138040 |
Glucocorticoid
Receptor
Resource database |
S.Stoney
Simons Mark Danielsen Georgetown Univ. Georgetown |
|
| GYPA 111300 GYPB GYPC GYPE |
Blood
Group Antigen Mutation Database
ENCOURAGED BY HUGO/MDI |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
| HBA1 141800 HBA2 HBB HBD HBG1 HBG2
|
HbVar:
A Database of Human Hemoglobin Variants and Thalassemias
|
Nick Anagnou IMBB, FORTH, Crete, Greece David Chui, Boston Univ Med Cnt, USA Ross Hardison George Patrinos Henri Wajcman INSERM, Hôpital Henri Mondor, France |
|
| HEXA 272800 No. 1 |
Hexosaminidase
A,
Tay-Sachs Disease |
F.
Kaplan P. Nowacki K. Hechtman McGill Univ., Montreal |
|
| HEXA 272800 No. 2 |
Tay
Sachs Disease
at GeneDis |
Ruth Navon Dept. Hum Gen, Sch Med, Tel-Aviv Univ, Israel Rachel Kreisberg-Zakarin, Bioinformatics Unit, Tel-Aviv Univ, Israel |
|
|
HEXB |
HEXB
Locus Database
|
F. Kaplan Paulo Cordeiro McGill University Montreal Canada |
|
|
HGD 203500 |
AKUdatabase Homogentisate 1,2 Dioxygenase Locus (HGO) Mutation and Polymorphism Database Home Page |
http://www.cib.csic.es/~akudb/index.htm SITE NOT WORKING FOR UNKNOWN REASONS |
Santiago Rodríguez de Córdoba & Daniel Beltrán-Valero de Bernabé Centro de Investigaciones Biológicas (CSIC) Velázquez, Madrid, Spain |
| HPRT1 308000 |
Hypoxanthine
Guanine Phosphoribosyltransferase 1,
Lech-Nyhan Syndrome |
Neil
Cariello Univ. Nth Carolina |
|
| HPS 203300 |
Albinism
Database
ENCOURAGED BY HUGO/MDI |
William
S. Oetting Int. Albinism Centre Univ. of Minnesota |
|
| HSD3B2 201810 |
Congenital
Adrenal Hyperplasia
at GeneDis |
Rachel Kreisberg-Zakarin, Bioinformatics Unit, Tel-Aviv Univ, Israel | |
| HSP60 118190 |
Mutations
in GroEL
Residues 1-237 |
Jeff Seale | |
| HSP60 118190 |
Mutations
in GroEL
Residues 238-518 |
Jeff Seale | |
| HSPE1 600141 |
Mutations
in GroES
|
Jeff Seale | |
|
IDUA |
Mucopolysaccharidosis
|
Chester
B.Whitley Univ. of Minnesota |
|
| IGHV 147070 IGHD IGHJ IGHC IGKV IGKJ IGKC IGLV IGLJ IGLC
|
IMGT,
the international ImMunoGeneTics information system®
|
Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France | |
| IL2RG 308380 |
X-Linked
Severe
Combined Immunodeficiency SCID |
Jeniffer
Puck Joie Davies Roxanne Fisher Amy Pepper NHGRI/NIH, Bethesda |
|
| IKBKAP 603722 |
Mutation
Database of Inherited Peripheral Neuropathies
ENCOURAGED BY HUGO/MDI |
Eva
Nelis Univ. of Antwerp Antwerp, Belgium |
|
| IKBKG 300248 |
IKBKGbase: Mutation registry for Nemo deficiency
|
Mauno
Vihinen Univ. of Tampere, Finland |
|
| IL12RB1 601604 |
IL12RB1base: Mutation registry for Interleukin-12 receptor ß1 deficiency
|
Mauno
Vihinen Univ. of Tampere, Finland |
|
| ITGA2B 273800 |
Glanzmann
Thrombasthenia Database
|
Mount
Sinai School of Medicine Dept.Medicine New York U.S.A. |
|
| ITGB2 600065 |
ITGB2base: Mutation registry for Leucosyte adhesion deficiency I (LAD-I)
|
Mauno
Vihinen Univ. of Tampere, Finland |
|
| ITGB3 173470 |
Glanzmann
Thrombasthenia Database
|
Mount
Sinai School of Medicine Dept.Medicine New York U.S.A. |
|
| JAK3 600173 |
JAK3base:
Mutation registry for autosomal recessive severe combined immunodeficiency |
Luigi
D. Notarangelo Mauno Vihinen Univ. of Tampere, Finland |
|
| JK(SLC14A1) 111000 |
Blood
Group Antigen Mutation Database
ENCOURAGED BY HUGO/MDI |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
|
JUP |
Gene
Connection - Naxos disease database |
S.G.
N. Protonotarios Naxos, Greece C. Napolitano Pavia, Italy |
|
|
KCNE2 603796 No.1 KCNH2 KCNQ1 |
Long
QT Syndrome Database
ENCOURAGED BY HUGO/MDI |
Michael
Christiansen Lars A. Larsen Paal Skytt Andersen Molecular Cardiology grp Statens Serum Institut Copenhagen, Denmark |
|
|
KCNE KCNH2 KCNQ1 |
Congenital
Long QT Syndrome
at GeneDis |
Rachel Kreisberg-Zakarin, Bioinformatics Unit, Tel-Aviv Univ, Israel | |
|
KCNE1 603796 No.3 KCNH2 KCNQ1 |
Gene
Connection -
Long QT Syndrome |
S.G.
Priori P.J. Schwartz Pavia,Italy |
|
|
KCNQ4 603534 |
Hereditary
Hearing Loss
at GeneDis |
Karen Avraham, Noa Davis, Dept. Hum Gen, Sch Med, Tel-Aviv Univ, Israel
Rachel Kreisberg-Zakarin, Bioinformatics Unit, Tel-Aviv Univ, Israel |
|
| KEL 110900 |
Blood
Group Antigen Mutation Database
ENCOURAGED BY HUGO/MDI |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
|
| KIF1B 605995 |
Mutation
Database of Inherited Peripheral Neuropathies
ENCOURAGED BY HUGO/MDI |
Eva
Nelis Univ. of Antwerp Antwerp, Belgium |
|
| - |
KinMutBase:
A registry of disease-causing mutations in tyrosine kinase domains |
Mauno
Vihinen Kaj Stenberg Univ. of Tampere Helsinki, Finland |
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|
©
Copyright HGVS 2003 All Rights Reserved
Created by Rania Horaitis Last Update 13 Feb. 2004 - Disclaimer |