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
C1GALT1C1 C1GALT1-specific chaperone 1 300611 C1GALT1C1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
C1GALT1C1 C1GALT1-specific chaperone 1 300611 C1GALT1C1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
C1QA complement component 1, q subcomponent, A chain 120550 C1QAbase: Mutation registry for C1qA deficiency Mauno Vihinen, Univ. of Tampere, Finland
C1QA complement component 1, q subcomponent, A chain 120550 C1QAbase: Mutation registry for C1qA deficiency Mauno Vihinen, Univ. of Tampere, Finland
C1QB complement component 1, q subcomponent, B chain 120570 C1QBbase: Mutation registry for C1qB deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
C1QC complement component 1, q subcomponent, C chain 120575 C1QGbase: Mutation registry for C1qG deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
C1S complement component 1, s subcomponent 120580 C1Sbase: Mutation registry for C1s deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
C2 complement component 2 217000 C2base: Mutation registry for C2 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
C3 complement component 3 120700 C3base: Mutation registry for C3 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
C5 complement component 5 120900 C5base: Mutation registry for C5 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
C6 complement component 6 217050 C6base: Mutation registry for C6 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
C7 complement component 7 217070 C7base: Mutation registry for C7 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
C8B complement component 8, beta polypeptide 120960 C8Bbase: Mutation registry for C8B deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
C9 complement component 9 120940 C9base: Mutation registry for C9 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CA2 carbonic anhydrase II 611492 CA2base: Mutation registry for Osteopetrosis with renal tubular acidosis Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CA5B carbonic anhydrase VB, mitochondrial 300230 CA5B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 601011 CAC1A1A database at LOVD Elles Boon and Boukje de Vries, LUMC, Leiden, Nederland
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 601011 Familial Hemiplegic Migraine (FHM) Variation Database Paola Carrera PhD and Stefania Battistini MD PhD
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 114205 Gene Connection for the Heart S.G. Priori, P.J. Schwartz, Pavia, Italy
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 114205 Zhejiang University-Adinovo Center CACNA1C Database Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 300110 Mutations of the L-type Calcium-Channel Gene Retina International
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 300110 CACNA1F database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 114208 CACNA1S at LOVD Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, Netherlands
CAPN3 calpain 3, (p94) 114240 Calpain-3; Limb-Girdle Muscular Dystrophy, type 2A Johan T. den Dunnen Leiden Univ. Med Centre,Leiden, The Netherlands
CAPN6 calpain 6 300146 CAPN6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 300172 CASK database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CASP10 caspase 10, apoptosis-related cysteine peptidase 601762 CCHMC - Human Genetics Mutation Database Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
CASP10 caspase 10, apoptosis-related cysteine peptidase 601762 CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CASP8 caspase 8, apoptosis-related cysteine peptidase 601763 CASP8base: Mutation registry for Caspase 8 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CASR calcium-sensing receptor 601199 CASRdb Calcium Sensing Receptor Locus Mutation Database Svetlana Pidasheva, Geoff Hendy, Manyphong Phommarinh, L.D'Souza-Li, McGill University Healt Centre Montreal, Canada
CAV3 caveolin 3 601253 Limb-Girdle Muscular Dystrophy type 1C Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands
CAV3 caveolin 3 601253 Zhejiang University-Adinovo Center CAV3 Database Ming Qi, PhD, FACMG, Peikuan Cong and Tao Zhang
CBS cystathionine-beta-synthase 236200 Cystathionine beta-synthase database Jan P. Kraus Univ. of Colorado Denver, U.S.A.
CCDC120 coiled-coil domain containing 120 \N CCDC120 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CCDC22 coiled-coil domain containing 22 \N CCDC22 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CCNB3 cyclin B3 300456 CCNB3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CD19 CD19 molecule 107265 CD19base: Mutation registry for CD19 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CD247 CD247 molecule 186780 CD247base: Mutation registry for Autosomal recessive CD3Zeta deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CD3D CD3d molecule, delta (CD3-TCR complex) 186790 CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CD3E CD3e molecule, epsilon (CD3-TCR complex) 186830 CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency Mauno Vihinen, Jose R. Regueiro, Univ. of Tampere, Tampere, Finland
CD3G CD3g molecule, gamma (CD3-TCR complex) 186740 CD3Gbase: Mutation registry for autosomal recessive CD3gamma immunodeficiency Mauno Vihinen, Jose R. Regueiro, Univ. of Tampere, Tampere, Finland
CD40 CD40 molecule, TNF receptor superfamily member 5 109535 CD40base: Mutation registry for CD40 deficiency (previously known as TNFRSF5base) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CD40LG CD40 ligand 300386 Immunodeficiency with Increased IgM-The European CD40 Defect Database European Society for Immuno deficiencies
CD40LG CD40 ligand 300386 CD40LG database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CD40LG CD40 ligand 300386 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
CD40LG CD40 ligand 300386 CD40Lbase: Mutation registry for X-linked Hyper-IgM syndrome Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) 125240 Blood Group Antigen Mutation Database Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of MedicineNew York, NY. U.S.A
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) 125240 CD55base: Mutation registry for Decay-accelerating factor (CD55) deficiency (previously known as DAFbase) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CD59 CD59 molecule, complement regulatory protein 107271 CD59base: Mutation registry for CD59 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CD79A CD79a molecule, immunoglobulin-associated alpha 112205 CD79Abase: Mutation registry for Igα deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CD8A CD8a molecule 186910 CD8Abase: Mutation registry for CD8 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CD99 CD99 molecule 450000 CD99 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CD99L2 CD99 molecule-like 2 \N CD99L2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 192090 Colon cancer gene variant databases - CDH1 Florentia Fostira
CDH23 cadherin-related 23 605516 Hereditary Hearing Loss Homepage Guy van Camp Univ. ofAntwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A
CDH23 cadherin-related 23 605516 Mutations of the Cadherin-related Protein 23 Gene Retina International
CDH23 cadherin-related 23 605516 Retinal and hearing impairment genetic mutation database David Baux
CDH23 cadherin-related 23 605516 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
CDH3 cadherin 3, type 1, P-cadherin (placental) 114021 Mutations of the P-Cadherin Gene Retina International
CDK16 cyclin-dependent kinase 16 311550 PCTK1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CDKL5 cyclin-dependent kinase-like 5 300203 CDKL5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CDKN2A cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) 600160 CDKN2a Database Project (a human p16 database with annotation) Marc Greenblatt Univ. of Vermont, Burlington VT, USA
CDKN2A cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) 600160 CDKN2A database at LOVD Janneke Weiss, LUMC, Leiden, The Netherlands
CDR1 cerebellar degeneration-related protein 1, 34kDa 302650 CDR1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon 600749 CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CENPI centromere protein I 300065 CENPI database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CEP290 centrosomal protein 290kDa 610142 CEP290base Frauke Coppieters Elfride De Baere
CFD complement factor D (adipsin) 134350 CFDbase: Mutation registry for Factor D deficiency (previously known as DFbase) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CFH complement factor H 134370 CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CFI complement factor I 217030 CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CFL2 cofilin 2 (muscle) 601443 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
CFP complement factor properdin 300383 PFCbase: Mutation registry for properdin deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CFP complement factor properdin 300383 CFP database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 602421 Cystic Fibrosis Lap Chee Tsui, The Hospital for Sick Children, Toronto, Canada
CHM choroideremia (Rab escort protein 1) 300390 CHM database at LOVD D. Baux, Institut Universitaire de Recherche Clinique UFR Médecine Site NORD, Montpellier, France
CHM choroideremia (Rab escort protein 1) 300390 Mutations of the Rab Escort Protein 1 Retina International
CHMP2B charged multivesicular body protein 2B 609512 Alzheimer Disease & Frontotemporal Dementia Mutation Database Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
CHMP4B chromatin modifying protein 4B 610897 CHMP4B database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
CHRDL1 chordin-like 1 300350 CHRDL1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CHRNG cholinergic receptor, nicotinic, gamma 100730 Cholinergic receptor, nicotinic, gamma polypeptide (CHRNG) variation database Dr Julie Vogt and Dr Derek Lim
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 608429 Ehlers-Danlos Syndrome Variant Database (CHST14) Raymond Dalgleish
CIITA class II, major histocompatibility complex, transactivator 600005 CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CISD2 CDGSH iron sulfur domain 2 611507 EURO-WABB Project Open Variation Database Dewi Astuti
CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 300149 CITED1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CLCN1 chloride channel 1, skeletal muscle 118425 CLCN1 - Chloride channel 1, skeletal muscle Ieke Ginjaar and Vincent Janmaat, Clinical Genetics, LUMC, Leiden
CLCN4 chloride channel, voltage-sensitive 4 302910 CLCN4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CLCN5 chloride channel 5 300008 CLCN5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CLCN7 chloride channel 7 602727 CLCN7base: Mutation registry for Autosomal dominant osteopetrosis, type 2 Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CLDN14 claudin 14 605608 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
CLDN2 claudin 2 300520 CLDN2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CLIC2 chloride intracellular channel 2 300138 CLIC2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CLN3 ceroid-lipofuscinosis, neuronal 3 607042 Neuronal Ceroid Lipofuscinoses; NCL Mutations Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom
CLN3 ceroid-lipofuscinosis, neuronal 3 607042 Mutations of the CLN3 Gene Retina International
CLN5 ceroid-lipofuscinosis, neuronal 5 608102 Neuronal Ceroid Lipofuscinoses; NCL Mutations Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 606725 Neuronal Ceroid Lipofuscinoses; NCL Mutations Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 607837 Neuronal Ceroid Lipofuscinoses; NCL Mutations Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom
CLRN1 clarin 1 606397 Mutations of the Usher Syndrome Type 3 Gene (USH3) Retina International
CLRN1 clarin 1 606397 The UMD USH3A mutations database A.-F. Roux and D. Baux
CLRN1 clarin 1 606397 Retinal and hearing impairment genetic mutation database David Baux
CLRN1 clarin 1 606397 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
CNGA1 cyclic nucleotide gated channel alpha 1 123825 Mutations of the Cyclic Nucleotide-gated Cation Channel Retina International
CNGA2 cyclic nucleotide gated channel alpha 2 300338 CNGA2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CNGA3 cyclic nucleotide gated channel alpha 3 600053 Mutations of the Cone Cyclic Nucleotide-gated Cation Channel Retina International
CNKSR2 connector enhancer of kinase suppressor of Ras 2 300724 CNKSR2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CNTN1 contactin 1 600016 CNTN1 - Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
CNTNAP2 contactin associated protein-like 2 604569 Contactin associated protein-like 2 (CNTNAP2) database Belinda Giardine and Joseph Borg
COCH coagulation factor C homolog, cochlin (Limulus polyphemus) 603196 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
COL11A2 collagen, type XI, alpha 2 120290 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
COL1A1 collagen, type I, alpha 1 120150 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
COL1A2 collagen, type I, alpha 2 120160 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
COL2A1 collagen, type II, alpha 1 120140 Collagen, type II, alpha 1 database at LOVD Isabelle Touitou, Laboratory of Genetics, A de Villeneuve Hospital, Montpellier, France
COL3A1 collagen, type III, alpha 1 120180 The UMD COL3A1 mutations database P. Khau van Kien
COL3A1 collagen, type III, alpha 1 120180 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
COL4A5 collagen, type IV, alpha 5 303630 ALPORT syndrome and COL4A5 gene Database Genevieve Pont-Kingdon, PhD, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA
COL4A5 collagen, type IV, alpha 5 303630 Collagen, type IV, alpha 5 (COL4A5) Mental Retardation Database Judy Savige
COL4A6 collagen, type IV, alpha 6 303631 Collagen, type IV, alpha 6 (COL4A6) Mental Retardation Database Judy Savige
COL5A1 collagen, type V, alpha 1 120215 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
COL5A2 collagen, type V, alpha 2 120190 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
COL6A1 collagen, type VI, alpha 1 120220 Leiden Muscular Dystrophy Pages Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK
COL6A2 collagen, type VI, alpha 2 120240 Leiden Muscular Dystrophy Pages Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK
COL6A3 collagen, type VI, alpha 3 120250 Leiden Muscular Dystrophy Pages Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK
COL7A1 collagen, type VII, alpha 1 120120 Medical Genetics Department Institute of Mother and Child Prof. Cezary Kowalewski, Katarzyna Wertheim-Tysarowska,
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 603033 ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes & Relatives Xavier Cousin, Institut National de la Recherche, Agronomique, Montpellier, France
CPS1 carbamoyl-phosphate synthetase 1, mitochondrial 608307 CPS1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CPXCR1 CPX chromosome region, candidate 1 \N CPXCR1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CR1 complement component (3b/4b) receptor 1 (Knops blood group) 120620 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
CRB1 crumbs homolog 1 (Drosophila) 604210 Mutations of the Human Crumbs Homologue 1 Retina International
CREBBP CREB binding protein 600140 CREBBP - Rubinstein-Taybi Syndrome (RSTS) Dorien Peters, Clinical Genetics, LUMC, Leiden
CRTAP cartilage associated protein 605497 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
CRX cone-rod homeobox 602225 Mutations of the Cone Rod Homeobox Gene Retina International
CRYAA crystallin, alpha A 123580 CRYAA database at LOVD Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
CRYAB crystallin, alpha B 123590 CRYAB database at LOVD Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
CRYBA1 crystallin, beta A1 123610 CRYBA1 database at LOVD Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
CRYBA4 crystallin, beta A4 123631 CRYBA4 database at LOVD Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
CRYBB1 crystallin, beta B1 600929 CRYBB1 database at LOVD Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
CRYBB2 crystallin, beta B2 123620 CRYBB2 database at LOVD Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
CRYBB3 crystallin, beta B3 123630 CRYBB3 database at LOVD Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
CRYGC crystallin, gamma C 123680 CRYGC database at LOVD Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
CRYGD crystallin, gamma D 123690 CRYGD database at LOVD Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
CRYGS crystallin, gamma S 123730 CRYGS database at LOVD Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark
CRYM crystallin, mu 123740 CRYM database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
CSAG1 chondrosarcoma associated gene 1 \N CSAG1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CSAG4 CSAG family, member 4 (pseudogene) \N CSAG4 database at LOVD Ing. Ivo F.A.C. Fokkema
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 425000 CSF2RA database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CSNK2A1 casein kinase 2, alpha 1 polypeptide 115440 Casein kinase 2, alpha 1 polypeptide (CSNK2A1) database Belinda Giardine and Joseph Borg
CSTF2 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 600368 CSTF2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CT45A2 cancer/testis antigen family 45, member A2 300793 CT45A2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CT45A5 cancer/testis antigen family 45, member A5 300796 CT45A5 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CTAG2 cancer/testis antigen 2 300396 CTAG2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 604927 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
CTPS2 CTP synthase II 300380 CTPS2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CTSC cathepsin C 602365 CTSCbase: Mutation registry for Papillon-Lefevre syndrome Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CTSK cathepsin K 601105 Cathepsin K Mutations DataBase Xiaohong Duan, Yang Xue
CUL4B cullin 4B 300304 CUL4B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXCR4 chemokine (C-X-C motif) receptor 4 162643 CXCR4base: Mutation registry for WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CXorf1 chromosome X open reading frame 1 300565 CXorf1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf21 chromosome X open reading frame 21 \N CXorf21 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf22 chromosome X open reading frame 22 \N CXorf22 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf23 chromosome X open reading frame 23 \N CXorf23 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf24 chromosome X open reading frame 24 \N CXorf24 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf27 chromosome X open reading frame 27 \N CXorf27 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf28 chromosome X open reading frame 28 \N CXorf28 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf30 chromosome X open reading frame 30 \N CXorf30 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf36 chromosome X open reading frame 36 \N CXorf36 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf38 chromosome X open reading frame 38 \N CXorf38 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf41 chromosome X open reading frame 41 \N CXorf41 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf56 chromosome X open reading frame 56 \N CXorf56 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf57 chromosome X open reading frame 57 \N CXorf57 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf58 chromosome X open reading frame 58 \N CXorf58 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf59 chromosome X open reading frame 59 \N CXorf59 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf64 chromosome X open reading frame 64 \N CXorf64 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf65 chromosome X open reading frame 65 \N CXorf65 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf66 chromosome X open reading frame 66 \N CXorf66 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXXC1P1 CXXC finger protein 1 pseudogene 1 \N CXorf25 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CYBA cytochrome b-245, alpha polypeptide 608508 CYBAbase: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p22phox Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CYBB cytochrome b-245, beta polypeptide 300481 CYBBbase: Mutation registry for X-linked chronic granulomatous disease (previously known as X-CDGbase) Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 107910 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 108330 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 124060 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 601771 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingeman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 201910 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 602239 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 606530 Cerebrotendinous Xanthomatosis Jorge Amigo Lechuga and María Jesús Sobrido
CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 608055 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 122720 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 123930 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 124020 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 601129 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 601130 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 124030 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 124040 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2F1 cytochrome P450, family 2, subfamily F, polypeptide 1 124070 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2 601258 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 608713 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2S1 cytochrome P450, family 2, subfamily S, polypeptide 1 611529 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP2W1 cytochrome P450, family 2, subfamily W, polypeptide 1 \N Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 124010 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP3A43 cytochrome P450, family 3, subfamily A, polypeptide 43 606534 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 605325 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP3A7 cytochrome P450, family 3, subfamily A, polypeptide 7 605340 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 601310 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP4A22 cytochrome P450, family 4, subfamily A, polypeptide 22 \N Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP4B1 cytochrome P450, family 4, subfamily B, polypeptide 1 124075 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYP4F2 cytochrome P450, family 4, subfamily F, polypeptide 2 604426 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
CYSLTR1 cysteinyl leukotriene receptor 1 300201 CYSLTR1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy

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