A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
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 Androgen Receptor Bruce Gottlieb L. Pinsky Lady Davis Inst. Med. Res., Montreal, Canada
AR androgen receptor 313700 AR database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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 Nephrogenic Diabetes Insipidus Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada
AVPR2 arginine vasopressin receptor 2 300538 AVPR2 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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

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