LOVD - Current system status

2016/06/27 13:12:11 CEST - Monday, June 27th 2016

Gene symbol Gene name Total variants Unique variants Patients
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 4037 2 2545
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 4283 97 1357
ACTB actin, beta 5 5 5
ACTG1 actin, gamma 1 15 15 15
ACVR1 activin A receptor, type I 182 18 182
ADA Adenosine deaminase 30 29 30
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 51 44 51
ADAMTSL2 ADAMTS-like 2 24 14 14
AFG3L2 AFG3 ATPase family gene 3-like 2 (yeast) 479 22 471
AGL Amylo-1, 6-glucosidase, 4-alpha-glucanotransferase 40 14 19
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) 1 1 1
AGPS alkylglycerone phosphate synthase 6 3 3
AGXT Alanine-glyoxylate aminotransferase 2 1 1
AIRE Autoimmune regulator 333 2 314
AKNAD1 AKNA domain containing 1 28 2 7
ALAS2 aminolevulinate, delta-, synthase 2 16 13 16
ALG1 asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) 82 33 40
ALG12 asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) 2 2 1
ALG3 asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) 2 1 1
ALG6 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 18 4 9
ALG8 asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 4 2 2
ALG9 asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) 2 1 1
ALK anaplastic lymphoma receptor tyrosine kinase 2 2 2
ALX1 ALX homeobox 1 2 1 2
AMH Anti-Mullerian hormone 3 3 1
ANTXR2 Anthrax toxin receptor 2 6 6 5
APOB Apolipoprotein B (including Ag(x) antigen) 187 142 145
APOE Apolipoprotein E 1 1 1
APTX Aprataxin 101 44 60
ARSG Arylsulfatase G 368 1 230
ATP13A2 ATPase type 13A2 4 2 2
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 146 45 146
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 0 0 0
ATR Ataxia telangiectasia and Rad3 related 36 4 30
BMP4 bone morphogenetic protein 4 14 10 14
BMP7 bone morphogenetic protein 7 19 17 19
BPGM 2,3-bisphosphoglycerate mutase 4 3 2
C12orf65 chromosome 12 open reading frame 65 7 2 5
C20ORF54 chromosome 20 open reading frame 54 24 9 11
CANT1 Calcium activated nucleotidase 1 16 8 8
CASQ2 calsequestrin 2 (cardiac muscle) 22 19 17
CASR Calcium-sensing receptor 341 244 341
CBL Cas-Br-M (murine) ecotropic retroviral transforming sequence 4 4 4
CCR5 Chemokine (C-C motif) receptor 5 2 1 1
CD320 CD320 molecule 10 5 1
CDKN1B Cyclin-dependent kinase inhibitor 1B (p27, Kip1) 1 1 1
CEP152 centrosomal protein 152kDa 28 7 17
CLCNKB chloride channel Kb 16 9 8
COL7A1 collagen, type VII, alpha 1 965 352 543
COL9A1 collagen, type IX, alpha 1 12 2 7
COL9A2 collagen, type IX, alpha 2 49 8 41
COL9A3 collagen, type IX, alpha 3 194 13 192
COMP Cartilage oligomeric matrix protein 212 128 209
CPA6 carboxypeptidase A6 11 2 7
CREB1 cAMP responsive element binding protein 1 1 1 1
CTNS cystinosis, nephropathic 322 44 213
CTSD Cathepsin D 0 0 0
CTSF Cathepsin F 0 0 0
CYBB cytochrome b-245, beta polypeptide 80 62 80
DHDPSL dihydrodipicolinate synthase-like, mitochondrial 30 6 15
DHH Desert hedgehog homolog (Drosophila) 14 7 7
DICER1 dicer 1, ribonuclease type III 128 106 128
DKC1 dyskeratosis congenita 1, dyskerin 28 23 28
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 5 2 5
EBP emopamil binding protein (sterol isomerase) 0 0 0
EFEMP2 EGF-containing fibulin-like extracellular matrix protein 2 0 0 0
EGLN1 Egl nine homolog 1 (C. elegans) (aka PHD2) 33 16 33
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 2 2 2
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 10 9 10
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 6 5 6
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 9 8 9
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 30 27 30
ELN elastin 0 0 0
EPAS1 endothelial PAS domain protein 1 (aka HIF2A) 10 7 10
EPOR erythropoietin receptor 64 18 64
ERCC5 Excision repair cross-complementing rodent repair deficiency, complementation group 5 4 2 2
ERCC8 excision repair cross-complementing rodent repair deficiency, complementation group 8 7 7 7
ETFDH Electron-transferring-flavoprotein dehydrogenase 2 1 1
EZH2 Enhancer of zeste homolog 2 (Drosophila) 109 70 88
F11 Coagulation factor XI 62 56 62
F13B Coagulation factor XIII, B polypeptide 8 8 8
F7 coagulation factor VII (serum prothrombin conversion accelerator) 0 0 0
FBLN5 fibulin 5 1 1 1
FERMT1 fermitin family homolog 1 (Drosophila) 324 69 173
FLNB Filamin B, beta 202 76 185
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2 18 7 9
FOXC1 forkhead box C1 1 1 1
FOXF1 Forkhead box F1 46 43 52
FOXL1 Forkhead box L1 0 0 8
FREM1 FRAS1 related extracellular matrix 1 6 6 6
FUS Fused in sarcoma 147 59 147
FZD4 frizzled homolog 4 (Drosophila) 35 32 35
G6PC Glucose-6-phosphatase, catalytic subunit 10 4 4
GATA2 GATA binding protein 2 36 24 33
GATA4 GATA binding protein 4 3 3 3
GDF5 Growth differentiation factor 5 1 1 1
GJA5 Gap junction protein, alpha 5, 40kDa 167 14 85
GLB1 galactosidase, beta 1 52 31 26
GNPAT glyceronephosphate O-acyltransferase 26 10 13
GPR61 G protein-coupled receptor 61 14 1 7
GPSM2 G-protein signaling modulator 2 53 6 28
GRN Granulin 0 0 0
GRXCR1 glutaredoxin, cysteine rich 1 35 6 25
HERC2 Hect domain and RLD 2 2 1 1
HFE hemochromatosis 0 0 0
HOXA2 Homeobox A2 1 1 1
HPSE2 heparanase 2 74 8 50
HTT huntingtin 12 6 7
IDUA iduronidase, alpha-L- 193 54 101
IFNGR1 interferon gamma receptor 1 194 48 131
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) 54 24 26
IFT122 intraflagellar transport 122 homolog (Chlamydomonas) 8 4 8
IL12B Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 101 11 53
IL12RB1 Interleukin 12 receptor, beta 1 530 191 210
IL12RB2 Interleukin 12 receptor, beta 2 138 138 1
IRGM immunity-related GTPase family, M 24 1 24
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 2 1 1
KCNJ2 Potassium inwardly-rectifying channel, subfamily J, member 2 114 63 113
KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2 1 1 1
KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3 0 0 0
KCNV2 potassium channel, subfamily V, member 2 34 20 17
KCTD7 Potassium channel tetramerisation domain containing 7 (CLN14) 0 0 0
KIAA1279 KIAA1279 2 1 1
KIAA1324 KIAA1324 14 1 7
LAMB2 laminin, beta 2 (laminin S) 181 88 101
LAMC1 Laminin, gamma 1 (formerly LAMB2) 1 1 1
LBR Lamin B receptor 1048 12 1042
LCAT lecithin-cholesterol acyltransferase 12 10 8
LIG4 Ligase IV, DNA, ATP-dependent 22 8 11
LMNB1 Lamin B1 85 1 85
LRP4 low density lipoprotein receptor-related protein 4 56 15 28
LRP6 Low density lipoprotein receptor-related protein 6 7 7 7
LTBP2 Latent transforming growth factor beta binding protein 2 167 24 93
LTBP4 latent transforming growth factor beta binding protein 4 0 0 0
MAN2B1 Mannosidase, alpha, class 2B, member 1 72 42 64
MAPK10 Mitogen-activated protein kinase 10 2 2 2
MAPT Microtubule-associated protein tau 1 1 1
MARCH3 Membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase 83 3 83
MATN3 matrilin 3 131 26 125
MC4R Melanocortin 4 receptor 1348 206 1312
MEOX1 Mesenchyme homeobox 1 4 2 2
MFSD8 Major facilitator superfamily domain containing 8 150 36 77
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 15 15 15
MLL2 myeloid/lymphoid or mixed-lineage leukemia 2 0 0 0
MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 1 1 1
MPDU1 mannose-P-dolichol utilization defect 1 4 2 2
MPI mannose phosphate isomerase 11 9 6
MPL Myeloproliferative leukemia virus oncogene 71 8 75
MSMB Microseminoprotein, beta- 4 2 2
MTTP microsomal triglyceride transfer protein 4 2 2
MUT Methylmalonyl Coenzyme A mutase 22 12 4
MYBPHL Myosin binding protein H-like 14 1 7
MYH6 Myosin, heavy chain 6, cardiac muscle, alpha 197 2 99
NCF2 neutrophil cytosolic factor 2 18 17 18
NCOA4 Nuclear receptor coactivator 4 7043 4 5566
NCSTN nicastrin 26 3 26
NF1 Neurofibromin 1 3304 1952 3302
NID1 nidogen 1 0 0 0
NKX25 (NKX2-5) NK2 transcription factor related, locus 5 (Drosophila) 0 0 0
NOG noggin 60 44 60
NOTCH2 Notch homolog 2 (Drosophila) 38 21 38
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 0 0 0
NR5A1 nuclear receptor subfamily 5, group A, member 1 8 2 8
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 0 0 0
OPTN Optineurin 1 1 1
OXCT1 3-oxoacid CoA transferase 1 2 1 1
PAPSS2 3'-Phosphoadenosine 5'-phosphosulfate synthase 2 20 9 10
PCCA Propionyl Coenzyme A carboxylase, alpha polypeptide 55 21 29
PCCB Propionyl Coenzyme A carboxylase, beta polypeptide 321 99 208
PDGFRL Platelet-derived growth factor receptor-like 2 1 2
PHKA2 Phosphorylase kinase, alpha 2 (liver) 16 14 16
PHKG2 Phosphorylase kinase, gamma 2 (testis) 5 3 3
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 2 2 1
PITX1 paired-like homeodomain 1 0 0 0
PKLR Pyruvate kinase, liver and RBC 897 240 676
PMM2 phosphomannomutase 2 226 45 114
POMP proteasome maturation protein 34 1 34
PRICKLE1 prickle homolog 1 (Drosophila) 64 13 38
PTPRQ protein tyrosine phosphatase, receptor type, Q 8 2 8
PYCR1 pyrroline-5-carboxylate reductase 1 8 8 8
PYGL Phosphorylase, glycogen, liver 6 4 3
RAB23 RAB23, member RAS oncogene family 0 0 0
RAG1 recombination activating gene 1 23 20 23
RAG2 Recombination activating gene 2 0 0 0
RBM8A RNA binding motif protein 8A 681 5 626
RET ret proto-oncogene 26 25 26
RPS10 ribosomal protein S10 5 3 5
RPS26 ribosomal protein S26 14 9 14
RSPH4A radial spoke head 4 homolog A (Chlamydomonas) 105 19 47
SACS Spastic ataxia of Charlevoix-Saguenay (sacsin) 387 182 211
SCARB2 scavenger receptor class B, member 2 1 1 1
SCN5A Sodium channel, voltage-gated, type V, alpha subunit 9 1 28
SCN9A sodium channel, voltage-gated, type IX, alpha subunit 77 74 18
SCO1 SCO cytochrome oxidase deficient homolog 1 (yeast) 2 2 1
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6 28 8 22
SETBP1 SET binding protein 1 13 6 13
SGSH N-sulfoglucosamine sulfohydrolase 4 3 2
SHANK2 SH3 and multiple ankyrin repeat domains 2 24 10 24
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 119 80 86
SLC25A24 Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 14 1 7
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 2 2 2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 39 33 37
SLC3A1 Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 0 0 0
SLC46A1 solute carrier family 46 (folate transporter), member 1 10 10 10
SLC4A11 solute carrier family 4, sodium borate transporter, member 11 123 59 71
SLC7A9 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 0 0 0
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 4 2 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 4 2 4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 94 88 94
SOS1 Son of sevenless homolog 1 (Drosophila) 199 59 197
SPRED1 sprouty-related, EVH1 domain containing 1 262 153 262
SPTAN1 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) 3 3 3
STAT1 Signal transducer and activator of transcription 1, 91kDa 205 59 194
STXBP1 syntaxin binding protein 1 36 32 36
SURF1 Surfeit 1 41 16 23
SYNGAP1 Synaptic Ras GTPase activating protein 1 homolog (rat) 15 15 15
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 2 2 2
TARDBP TAR DNA binding protein 125 48 125
TAS2R38 Taste receptor, type 2, member 38 4672 61 2317
THPO thrombopoietin 0 0 6
TIMM23 Translocase of inner mitochondrial membrane 23 homolog (yeast) 4 2 2
TMEM216 transmembrane protein 216 104 7 104
TPP1 Tripeptidyl peptidase 1 642 122 324
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1 1 1
TRPM4 Transient receptor potential cation channel, subfamily M, member 4 92 11 89
TTC37 tetratricopeptide repeat domain 37 11 11 8
TYMP thymidine phosphorylase 18 3 5
TYRP1 Tyrosinase-related protein 1 73 30 36
UBIAD1 UbiA prenyltransferase domain containing 1 60 24 60
UBR1 ubiquitin protein ligase E3 component n-recognin 1 0 0 0
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C 2 2 2
WT1 Wilms tumor 1 19 12 19
YARS2 Tyrosyl-tRNA synthetase 2, mitochondrial 10 2 6
ZEB2 zinc finger E-box binding homeobox 2 0 0 0
  Total of 234 gene entries 40369 7240 28037