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
H2BFWT H2B histone family, member W, testis-specific 300507 H2BFWT database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HAO2 hydroxyacid oxidase 2 (long chain) 605176 Hydroxyacid oxidase 2 (long chain) (HAO2) database Belinda Giardine and Joseph Borg
HAUS7 HAUS augmin-like complex, subunit 7 300540 HAUS7 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HAX1 HCLS1 associated protein X-1 605998 CCHMC - Human Genetics Mutation Database Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
HBA1 hemoglobin, alpha 1 141800 HbVar: A Database of Human Hemoglobin Variants and Thalassemias Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
HBA1 hemoglobin, alpha 1 141800 Alpha-1 globin (HBA1) database Belinda Giardine and Joseph Borg
HBA2 hemoglobin, alpha 2 141850 HbVar: A Database of Human Hemoglobin Variants and Thalassemias Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
HBA2 hemoglobin, alpha 2 141850 Alpha-2 globin (HBA2) database Belinda Giardine and Joseph Borg
HBB hemoglobin, beta 141900 HbVar: A Database of Human Hemoglobin Variants and Thalassemias Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
HBB hemoglobin, beta 141900 Beta globin (HBB) database Belinda Giardine and Joseph Borg
HBD hemoglobin, delta 142000 Delta globin (HBD) database Belinda Giardine and Joseph Borg
HBD hemoglobin, delta 142000 HbVar: A Database of Human Hemoglobin Variants and Thalassemias Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
HBG1 hemoglobin, gamma A 142200 HbVar: A Database of Human Hemoglobin Variants and Thalassemias Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
HBG1 hemoglobin, gamma A 142200 A-gamma globin (HBG1) database Belinda Giardine and Joseph Borg
HBG2 hemoglobin, gamma G 142250 HbVar: A Database of Human Hemoglobin Variants and Thalassemias Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France
HBG2 hemoglobin, gamma G 142250 G-gamma globin (HBG2) databse Belinda Giardine and Joseph Borg
HBS1L HBS1-like (S. cerevisiae) 612450 HBS1-like (HBS1L) database Belinda Giardine and Joseph Borg
HCCS holocytochrome c synthase (cytochrome c heme-lyase) 300056 HCCS database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HCFC1 host cell factor C1 (VP16-accessory protein) 300019 HCFC1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HDAC6 histone deacetylase 6 300272 HDAC6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HDAC8 histone deacetylase 8 300269 HDAC8 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HDHD1 cid dehalogenase-like hydrolase domain containing 1 306480 HDHD1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HDX highly divergent homeobox \N \N http://www.LOVD.nl/HAUS7 Jacopo Celli Leiden Univ. Med Centre
HEPH hephaestin 300167 HEPH database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HEXA hexosaminidase A (alpha polypeptide) 606869 Hexosaminidase A; Tay-Sachs Disease Feige Kaplan, Manyphong Phommarinh, McGill Univ., Montreal, Canada
HEXB hexosaminidase B (beta polypeptide) 606873 HEXB Locus Database F. Kaplan, Paulo Cordeiro, Manyphong Phommarinh, McGill University, Montreal, Canada
HGD homogentisate 1,2-dioxygenase 607474 AKUdatabaseHomogentisate 1,2 Dioxygenase Locus (HGO) Mutation and Polymorphism Database Home Page Santiago Rodríguez de Córdoba & Daniel Beltrán-Valero de BernabéCentro de Investigaciones Biológicas (CSIC) Velázquez, Madrid, Spain (Inactive)
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 610453 LOVD - Leiden Open Variation Database Stéphanie Durand
HLA-A major histocompatibility complex, class I, A 142800 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-B major histocompatibility complex, class I, B 142830 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-C major histocompatibility complex, class I, C 142840 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DMA major histocompatibility complex, class II, DM alpha 142855 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DMB major histocompatibility complex, class II, DM beta 142856 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DOA major histocompatibility complex, class II, DO alpha 142930 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DOB major histocompatibility complex, class II, DO beta 600629 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 142880 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DPA2 major histocompatibility complex, class II, DP alpha 2 (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DPA3 major histocompatibility complex, class II, DP alpha 3 (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 142858 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 146880 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 604305 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DRA major histocompatibility complex, class II, DR alpha 142860 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 142857 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DRB2 major histocompatibility complex, class II, DR beta 2 (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DRB3 major histocompatibility complex, class II, DR beta 3 \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DRB5 major histocompatibility complex, class II, DR beta 5 604776 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DRB7 major histocompatibility complex, class II, DR beta 7 (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DRB8 major histocompatibility complex, class II, DR beta 8 (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-DRB9 major histocompatibility complex, class II, DR beta 9 (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-E major histocompatibility complex, class I, E 143010 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-F major histocompatibility complex, class I, F 143110 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-G major histocompatibility complex, class I, G 142871 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-H major histocompatibility complex, class I, H (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-J major histocompatibility complex, class I, J (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-K major histocompatibility complex, class I, K (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-L major histocompatibility complex, class I, L, pseudogene \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-N major histocompatibility complex, class I, N (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-P major histocompatibility complex, class I, P (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-S major histocompatibility complex, class I, S (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-T major histocompatibility complex, class I, T (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-U major histocompatibility complex, class I, U (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-V major histocompatibility complex, class I, V (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-W major histocompatibility complex, class I, W (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-X major histocompatibility complex, class I, X (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-Y major histocompatibility complex, class I, Y (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-Z major histocompatibility complex, class I, Z (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 600234 Innsbruck Metabolic Diseases Pages Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner
HMGN5 high-mobility group nucleosome binding domain 5 300385 HMGN5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HNF1A HNF1 homeobox A 142410 HNF1A at LOVD Monique Losekoot, LUMC, Leiden, Netherlands
HNF4A hepatocyte nuclear factor 4, alpha 600281 HNF4A at LOVD Monique Losekoot, LUMC, Leiden, Netherlands
HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H') 300610 HNRNPH2 database at LOVD Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
HPRT1 hypoxanthine phosphoribosyltransferase 1 308000 Hypoxanthine Guanine Phosphoribosyltransferase 1; Lech-Nyhan Syndrome Neil Cariello, Univ. Nth Carolina, USA
HPS1 Hermansky-Pudlak syndrome 1 604982 Mutations of the HPS Gene Retina International
HPS1 Hermansky-Pudlak syndrome 1 604982 Albinism Database William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA
HPS1 Hermansky-Pudlak syndrome 1 604982 Mutations of the ep-Gene Retina International
HPS3 Hermansky-Pudlak syndrome 3 606118 Mutations of the HPS3 Gene Retina International
HPS3 Hermansky-Pudlak syndrome 3 606118 Albinism Database William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA
HPS3 Hermansky-Pudlak syndrome 3 606118 Hermansky-Pudlak syndrome 3 (HPS3) LOVD-team, but with Curator vacancy and William (Bill) Oetting
HPS4 Hermansky-Pudlak syndrome 4 606682 Mutations of the Human light ear Gene (le, HPS4) Retina International
HPS4 Hermansky-Pudlak syndrome 4 606682 Hermansky-Pudlak syndrome 4 (HPS4) LOVD-team, but with Curator vacancy and William (Bill) Oetting
HPS5 Hermansky-Pudlak syndrome 5 607521 Hermansky-Pudlak syndrome 5 (HPS5) LOVD-team, but with Curator vacancy and William (Bill) Oetting
HPS6 Hermansky-Pudlak syndrome 6 607522 Hermansky-Pudlak syndrome 6 (HPS6) LOVD-team, but with Curator vacancy and William (Bill) Oetting
HPSE2 heparanase 2 613469 heparanase 2 (HPSE2) LOVD-Team, but with (acting), Curator vacancy
HS6ST2 heparan sulfate 6-O-sulfotransferase 2 300545 HS6ST2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 300256 Innsbruck Metabolic Diseases Pages Johannes Zschocke, Barbara Lanthaler and Martina Witsch-Baumgartner
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 300256 HSD17B10 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 605573 Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) Ming Qi, PhD, FACMG, Peikuan Cong, deng and Yuanli Lei
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 601860 LOVD 3.0 shared installation LOVD-team, but with Curator vacancy
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 613890 Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) Ming Qi, PhD, FACMG, Peikuan Cong, deng and Yuanli Lei
HSF4 heat shock transcription factor 4 602438 HSF4 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
HSPB1 heat shock 27kDa protein 1 602195 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
HSPB8 heat shock 22kDa protein 8 608014 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
HTATSF1 HIV-1 Tat specific factor 1 300346 HTATSF1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C 312861 HTR2C database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 182139 HTR3A database at Heidelberg University Dr. Beate Niesler, Heidelberg University
HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 182139 HTR3A database at Heidelberg University Steffi Wilke and Dr. Beate Niesler, Heidelberg University
HTR3B 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 604654 HTR3B database at Heidelberg University Dr. Beate Niesler, Heidelberg University
HTR3C 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 610121 HTR3C database at Heidelberg University Dr. Beate Niesler, Heidelberg University
HTR3D 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 610122 HTR3D database at Heidelberg University Dr. Beate Niesler, Heidelberg University
HTR3E 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 610123 HTR3E database at Heidelberg University Dr. Beate Niesler, Heidelberg University
HTRA2 HtrA serine peptidase 2 606441 PD Mutation Database Tokyo Univ. Hosp., Tokyo Univ., and Hitachi Ltd.
HTT huntingtin 613004 Mendelian genes Willeke van Roon-Mom
HUWE1 HECT, UBA and WWE domain containing 1 300697 HUWE1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy

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