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 |
Alpha-2 globin (HBA2) 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 |
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 |
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 |
HBD |
hemoglobin, delta |
142000 |
Delta globin (HBD) database |
Belinda Giardine and Joseph Borg |
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 |
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 |
HPS1 |
Hermansky-Pudlak syndrome 1 |
604982 |
Mutations of the HPS 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 |
HSD17B10 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 |
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 |