ABCA12 |
ATP-binding cassette, sub-family A (ABC1), member 12 |
607800 |
Mutations of the ATP-binding Cassette Transporter A 12 (ABCA12) associated with harlequin ichthyosis, congenital ichthyosiform erythroderma and lamellar ichthyosis |
Masashi Akiyama and Kaori Sakai |
ABCA13 |
ATP-binding cassette, sub-family A (ABC1), member 13 |
607807 |
LOVD - Leiden Open Variation Database |
Johan T. den Dunnen and Ben Pickard |
ABCA4 |
ATP-binding cassette, sub-family A (ABC1), member 4 |
601691 |
Mutations of the ATP-binding Cassette Transporter Retina |
Retina International |
ABCB11 |
ATP-binding cassette, sub-family B (MDR/TAP), member 11 |
603201 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami |
ABCB4 |
ATP-binding cassette, sub-family B (MDR/TAP), member 4 |
171060 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
ABCB7 |
ATP-binding cassette, sub-family B (MDR/TAP), member 7 |
300135 |
ABCB7 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
603234 |
Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E) |
Retina International |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
603234 |
LOVD at NCBI |
Sharon Terry and Tim Hefferon |
ABCD1 |
ATP-binding cassette, sub-family D (ALD), member 1 |
300371 |
X-linked Adrenoleukodystrophy Database |
Hugo W. Moser Dept. of Neurogenetics Kennedy Krieger Inst. Baltimore, USA. Stephan Kemp, Ronald R.J.A. Wanders Lab. of Genetic Metabolic Diseases Academic Medical Ctr. Amsterdam, The Netherlands. |
ABO |
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) |
110300 |
Blood Group Antigen Mutation Database |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
ACAD8 |
acyl-CoA dehydrogenase family, member 8 |
604773 |
Innsbruck Metabolic Diseases Pages |
Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner |
ACADM |
acyl-CoA dehydrogenase, C-4 to C-12 straight chain |
607008 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
ACADSB |
acyl-CoA dehydrogenase, short/branched chain |
600301 |
Innsbruck Metabolic Diseases Pages |
Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner |
ACADVL |
acyl-CoA dehydrogenase, very long chain |
609575 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
ACE2 |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 |
300335 |
ACE2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ACHE |
acetylcholinesterase (Yt blood group) |
100740 |
Blood Group Antigen Mutation Database |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
ACOT9 |
acyl-CoA thioesterase 9 |
\N |
ACOT9 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ACSL4 |
acyl-CoA synthetase long-chain family member 4 |
300157 |
ACSL4 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ACTA1 |
actin, alpha 1, skeletal muscle |
102610 |
Laing Laboratory Skeletal muscle alpha-actin (ACTA1) |
Nigel Laing and Kristen Nowak |
ACTA1 |
actin, alpha 1, skeletal muscle |
102610 |
Leiden Muscular Dystrophy pages |
Kristen Nowak and Nigel Laing |
ACTC1 |
actin, alpha, cardiac muscle 1 |
102540 |
FHC Mutation Database |
Bing Yu, Ronald J. Trent. Dept. Mol & Clin Genet. Royal Prince Alfred Hosp. Sydney, Australia |
ACTC1 |
actin, alpha, cardiac muscle 1 |
102540 |
Sarcomere Protein Gene Mutation Database |
NHLBI Program for Genomic Applications, Harvard Medical School. |
ACTRT1 |
actin-related protein T1 |
300487 |
ACTRT1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ACVRL1 |
activin A receptor type II-like 1 |
601284 |
Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database |
Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories |
ADA |
adenosine deaminase |
608958 |
ADAbase: Mutation registry for Adenosine Deaminase Deficiency |
Mauno Vihinen, Michael Hershfield, Univ. of Tampere, Finland |
ADSL |
adenylosuccinate lyase |
608222 |
Adenylosuccinate Lyase Mutations Database Home Page |
Georges Van Den Berghe, Christian De Duve Instutute for Cellular Pathology (ICP), University of Louvain Medical School, Belgium |
AFF2 |
AF4/FMR2 family, member 2 |
309548 |
AFF2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AGRN |
agrin |
103320 |
AGRN - Leiden Muscular Dystrophy pages |
ddunnen@LUMC.nl, tom.winder@preventiongenetics.com |
AGTR2 |
angiotensin II receptor, type 2 |
300034 |
AGTR2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AICDA |
activation-induced cytidine deaminase |
605257 |
AICDA base: Mutation registry for Aid deficiency |
Anne Durandy, Mauno Vihinen, Univ. of Tampere, Finland |
AIFM1 |
apoptosis-inducing factor, mitochondrion-associated, 1 |
300169 |
AIFM1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AIPL1 |
aryl hydrocarbon receptor interacting protein-like 1 |
604392 |
Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1 |
Retina International |
AIRE |
autoimmune regulator |
607358 |
AIREbase: Mutation registry for APECED |
Mauno Vihinen, Pärt Peterson, Univ. of Tampere, Finland |
AKAP14 |
A kinase (PRKA) anchor protein 14 |
300462 |
AKAP14 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AKAP17A |
A kinase (PRKA) anchor protein 17A |
465000 |
X-Chromosome gene database - SFRS17A |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AKAP4 |
A kinase (PRKA) anchor protein 4 |
300185 |
AKAP4 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AKAP9 |
A kinase (PRKA) anchor protein (yotiao) 9 |
604001 |
Zhejiang University-Adinovo Center AKAP9 Database |
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
ALB |
albumin |
103600 |
Albumin mutation database |
Prof. Ulrich Kragh-Hansen, University of Aarhus, Aarhus, Denmark, and Dr. Theodore Peters, Jr., Bassett Healthcare, Cooperstown, NY, USA |
ALDH1A1 |
aldehyde dehydrogenase 1 family, member A1 |
100640 |
Human Polymorphisms of ALDH Genes |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
ALDH2 |
aldehyde dehydrogenase 2 family (mitochondrial) |
100650 |
Human Polymorphisms of ALDH Genes |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
ALDH3A1 |
aldehyde dehydrogenase 3 family, member A1 |
100660 |
Human Polymorphisms of ALDH Genes |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
ALDH4A1 |
aldehyde dehydrogenase 4 family, member A1 |
606811 |
Human Polymorphisms of ALDH Genes |
Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
ALDH5A1 |
aldehyde dehydrogenase 5 family, member A1 |
610045 |
Succinic semialdehyde dehydrogenase (ALDH5A1) Variation Database |
Gajja Salomons |
ALDH7A1 |
aldehyde dehydrogenase 7 family, member A1 |
107323 |
BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND |
Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation |
ALDH9A1 |
aldehyde dehydrogenase 9 family, member A1 |
602733 |
Human Polymorphisms of ALDH Genes |
Vasilis Vasiliou, Agi Pappa Univ. Colorado Health Sci. Center, Denver, U.S.A. |
ALDOB |
aldolase B, fructose-bisphosphate |
229600 |
Hereditary Fructose Intolerance/Aldolase |
Dean R. Tolan, Boston Univ., U.S.A. |
ALG1 |
asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) |
605907 |
Congenital Disorders of Glycosylation pages |
Gert Matthijs Center for Human Genetics Leuven, Belgium |
ALG12 |
asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) |
607144 |
Congenital Disorders of Glycosylation pages |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
ALG13 |
asparagine-linked glycosylation 13 homolog (S. cerevisiae) |
300776 |
ALG13 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ALG2 |
asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) |
607905 |
Congenital Disorders of Glycosylation pages |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
ALG3 |
asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) |
608750 |
Congenital Disorder of Glycosylation pages |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
ALG6 |
asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) |
604566 |
Congenital Disorder of Glycosylation pages |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
ALG8 |
asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) |
608103 |
Congenital Disorders of Glycosylation pages |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
ALG9 |
asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) |
606941 |
Congenital Disorders of Glycosylation pages |
Gert Matthijs, Center for Human Genetics Leuven, Belgium |
ALMS1 |
Alstrom syndrome 1 |
606844 |
EURO-WABB Project Open Variation Database |
Dewi Astuti |
ALOX5AP |
arachidonate 5-lipoxygenase-activating protein |
603700 |
arachidonate 5-Lipoxygenase-activating protein (ALOX5AP) database |
Belinda Giardine and Joseph Borg |
ALPL |
alkaline phosphatase, liver/bone/kidney |
171760 |
Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database |
Etienne Mornet, Laboratoire SESEP, Universite de Versailles, Versailles, France |
AMELX |
amelogenin, X-linked |
300391 |
AMELX database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AMMECR1 |
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 |
300195 |
AMMECR1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AMOT |
angiomotin |
300410 |
AMOT database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ANK2 |
ankyrin 2, neuronal |
106410 |
Gene Connection for the Heart |
S.G. Priori, P.J. Schwartz, Pavia, Italy |
ANK2 |
ankyrin 2, neuronal |
106410 |
Zhejiang University-Adinovo Center ANK2 Database |
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
ANO5 |
anoctamin 5 |
608662 |
ANO5 - Leiden Muscular Dystrophy pages |
Johan T. den Dunnen Leiden Univ. Med Centre |
ANO5 |
anoctamin 5 |
608662 |
ANO5 LOVD - Leiden Open Variation Database |
Véronique Bolduc |
AP1S2 |
adaptor-related protein complex 1, sigma 2 subunit |
300629 |
AP1S2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AP3B1 |
adaptor-related protein complex 3, beta 1 subunit |
603401 |
Albinism Database |
William S. Oetting Int. Albinism Centre Univ. of Minnesota, U.S.A. |
AP3B1 |
adaptor-related protein complex 3, beta 1 subunit |
603401 |
AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2 |
Mauno Vihinen, Univ. of Tampere, Finland |
AP3B1 |
adaptor-related protein complex 3, beta 1 subunit |
603401 |
Mutations of the Adaptin b3a Gene |
Retina International |
APC |
adenomatous polyposis coli |
611731 |
Zhejiang University-Adinovo Center APC Database |
Ming Qi, PhD, FACMG, Peikuan Cong and Yudong Gao |
APC |
adenomatous polyposis coli |
611731 |
The APC Mutation Database |
Dr. Stefan Aretz and Dr. Waltraut Friedl |
APC |
adenomatous polyposis coli |
611731 |
The UMD APC mutations database |
Christophe Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France Thierry Soussi INSERM, Hopital Necker Enfants Malades, Paris |
APC |
adenomatous polyposis coli |
611731 |
Colon cancer gene variant databases- APC |
Dr. Stefan Aretz and Dr. Waltraut Friedl |
APEX2 |
APEX nuclease (apurinic/apyrimidinic endonuclease) 2 |
300773 |
APEX2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
APLN |
apelin |
300297 |
APLN database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
APOO |
apolipoprotein O |
300753 |
APOO database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
APOOL |
apolipoprotein O-like |
\N |
APOOL database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
APP |
amyloid beta (A4) precursor protein |
104760 |
Alzheimer Disease & Frontotemporal Dementia Mutation Database |
Marc Cruts Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
AQP1 |
aquaporin 1 (Colton blood group) |
107776 |
Blood Group Antigen Mutation Database |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
AQP2 |
aquaporin 2 (collecting duct) |
107777 |
Nephrogenic diabetes Insipidus |
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
AQP9 |
aquaporin 9 |
602914 |
Aquaporin 9 (AQP9) database |
Belinda Giardine and Joseph Borg |
AR |
androgen receptor |
313700 |
AR database at LOVD |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AR |
androgen receptor |
313700 |
Androgen Receptor |
Bruce Gottlieb L. Pinsky Lady Davis Inst. Med. Res., Montreal, Canada |
ARAF |
v-raf murine sarcoma 3611 viral oncogene homolog |
311010 |
ARAF database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARG1 |
arginase, liver |
608313 |
ARG1database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARG2 |
arginase, type II |
107830 |
Arginase, type II (ARG2) database |
Belinda Giardine and Joseph Borg |
ARHGAP4 |
Rho GTPase activating protein 4 |
300023 |
ARHGAP4 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARHGAP6 |
Rho GTPase activating protein 6 |
300118 |
ARHGAP6 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARHGEF10 |
Rho guanine nucleotide exchange factor (GEF) 10 |
608136 |
Inherited Peripheral Neuropathies Mutation Database |
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
ARHGEF6 |
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 |
300267 |
ARHGEF6 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARID1A |
AT rich interactive domain 1A (SWI-like) |
603024 |
ARID1A database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARL6 |
ADP-ribosylation factor-like 6 |
608845 |
EURO-WABB Open Variation Database |
Dewi Astuti |
ARMCX1 |
armadillo repeat containing, X-linked 1 |
300362 |
ARMCX1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARMCX2 |
armadillo repeat containing, X-linked 2 |
300363 |
ARMCX2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARMCX3 |
armadillo repeat containing, X-linked 3 |
300364 |
ARMCX3 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARMCX4 |
armadillo repeat containing, X-linked 4 |
\N |
ARMCX4 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARMCX5 |
armadillo repeat containing, X-linked 5 |
\N |
ARMCX5 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARMCX6 |
armadillo repeat containing, X-linked 6 |
\N |
ARMCX6 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARSD |
arylsulfatase D |
300002 |
ARSD database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARSE |
arylsulfatase E (chondrodysplasia punctata 1) |
300180 |
ARSE database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ARSF |
arylsulfatase F |
300003 |
ARSF database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ART4 |
ADP-ribosyltransferase 4 (Dombrock blood group) |
110600 |
Blood Group Antigen Mutation Database |
Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
ASB11 |
ankyrin repeat and SOCS box-containing 11 |
300626 |
ASB11 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ASB12 |
ankyrin repeat and SOCS box-containing 12 |
\N |
ASB12 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ASB9 |
ankyrin repeat and SOCS box-containing 9 |
\N |
ASB9 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ASL |
argininosuccinate lyase |
608310 |
ASL database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ASMT |
acetylserotonin O-methyltransferase |
402500 |
ASMT database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ASMTL |
acetylserotonin O-methyltransferase-like |
400011 |
ASMTL database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ASMTL-AS1 |
ASMTL antisense RNA 1 (non-protein coding) |
\N |
NCRNA00105 database at LOVD |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ASPA |
aspartoacylase (Canavan disease) |
608034 |
aspartoacylase (Canavan disease) (ASPA) Variation Database |
Gajja Salomons |
ASS1 |
argininosuccinate synthase 1 |
603470 |
ASS1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ASS1 |
argininosuccinate synthase 1 |
603470 |
Argininosuccinate synthetase 1 (ASS1) database |
Belinda Giardine and Joseph Borg |
ASXL1 |
additional sex combs like 1 (Drosophila) |
612990 |
LOVD - Leiden Open Variation Database (ASXL1) |
Helger Yntema |
ATM |
ataxia telangiectasia mutated |
607585 |
ATM at LOVD |
Patrick Concannon, Memorial Sloan-Kettering Cancer Center, New York, USA |
ATP11C |
ATPase, class VI, type 11C |
300516 |
ATP11C database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ATP1A2 |
ATPase, Na+/K+ transporting, alpha 2 polypeptide |
182340 |
ATP1A2 database at LOVD |
Boukje de Vries, LUMC, Leiden, The Netherlands |
ATP1B4 |
ATPase, Na+/K+ transporting, beta 4 polypeptide |
\N |
ATP1B4 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ATP2B3 |
ATPase, Ca++ transporting, plasma membrane 3 |
300014 |
ATP2B3 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ATP6AP2 |
ATPase, H+ transporting, lysosomal accessory protein 2 |
300556 |
ATP6AP2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ATP7A |
ATPase, Cu++ transporting, alpha polypeptide |
300011 |
ATP7A database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ATP7B |
ATPase, Cu++ transporting, beta polypeptide |
606882 |
Wilson Disease Mutation Database |
Lisa Davies, Diane Cox, Dept Med Gen, Univ Alberta, Canada |
ATP7B |
ATPase, Cu++ transporting, beta polypeptide |
606882 |
The UMD ATP7B mutations database |
Irene Ceballos, Paris, France |
ATP8B1 |
ATPase, aminophospholipid transporter, class I, type 8B, member 1 |
602397 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
ATRX |
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) |
300032 |
alpha thalassemia/mental Retardation syndrome X-linked (ATRX) database |
Belinda Giardine and Joseph Borg |
ATRX |
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) |
300032 |
ATRX database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
ATXN3L |
ataxin 3-like |
\N |
ATXN3L database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AUH |
AU RNA binding protein/enoyl-CoA hydratase |
600529 |
Innsbruck Metabolic Diseases Pages |
Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner |
AVP |
arginine vasopressin |
192340 |
Nephrogenic diabetes Insipidus |
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
AVP |
arginine vasopressin |
192340 |
nndi ARGININE VASOPRESSIN (AVP) |
NNDI Administrator and Ellen Buschman |
AVPR2 |
arginine vasopressin receptor 2 |
300538 |
AVPR2 database at LOVD |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AVPR2 |
arginine vasopressin receptor 2 |
300538 |
Nephrogenic Diabetes Insipidus |
Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
AWAT1 |
acyl-CoA wax alcohol acyltransferase 1 |
\N |
AWAT1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
AWAT2 |
acyl-CoA wax alcohol acyltransferase 2 |
\N |
AWAT2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |