LOVD - Current system status

2018/11/16 14:57:51 CET - Friday, November 16th 2018

Gene symbol Gene name Total variants Unique variants Patients
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 4283 97 1357
ADAMTSL2 ADAMTS-like 2 24 14 14
AIRE Autoimmune regulator 333 2 314
AKNAD1 AKNA domain containing 1 28 2 7
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
ANTXR2 Anthrax toxin receptor 2 6 6 5
APOB Apolipoprotein B (including Ag(x) antigen) 192 146 148
APTX Aprataxin 101 44 60
ARSG Arylsulfatase G 368 1 230
ATR Ataxia telangiectasia and Rad3 related 36 4 30
BPGM 2,3-bisphosphoglycerate mutase 4 3 2
CDKN1B Cyclin-dependent kinase inhibitor 1B (p27, Kip1) 1 1 1
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
CTNS cystinosis, nephropathic 322 44 213
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
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
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
F11 Coagulation factor XI 62 56 62
F13B Coagulation factor XIII, B polypeptide 8 8 8
FERMT1 fermitin family homolog 1 (Drosophila) 325 70 174
FLNB Filamin B, beta 205 78 187
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2 18 7 9
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
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
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
GRXCR1 glutaredoxin, cysteine rich 1 35 6 25
HERC2 Hect domain and RLD 2 2 1 1
HOXA2 Homeobox A2 1 1 1
HPSE2 heparanase 2 74 8 50
IFNGR1 interferon gamma receptor 1 488 328 142
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) 56 25 27
IFT122 intraflagellar transport 122 homolog (Chlamydomonas) 8 4 8
IL12B Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 103 12 54
IL12RB1 Interleukin 12 receptor, beta 1 556 192 223
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
KCNV2 potassium channel, subfamily V, member 2 34 20 17
KIAA1279 KIAA1279 2 1 1
KIAA1324 KIAA1324 14 1 7
LAMB2 laminin, beta 2 (laminin S) 181 88 101
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
LRP6 Low density lipoprotein receptor-related protein 6 7 7 7
LTBP2 Latent transforming growth factor beta binding protein 2 167 24 93
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
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
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
NOG noggin 60 44 60
NOTCH2 Notch homolog 2 (Drosophila) 38 21 38
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 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
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
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
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
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
SCARB2 scavenger receptor class B, member 2 1 1 1
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
SLC25A24 Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 14 1 7
SLC4A11 solute carrier family 4, sodium borate transporter, member 11 123 59 71
SPRED1 sprouty-related, EVH1 domain containing 1 262 153 262
SPTAN1 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) 3 3 3
STXBP1 syntaxin binding protein 1 36 32 36
THPO thrombopoietin 0 0 6
TMEM216 transmembrane protein 216 104 7 104
TTC37 tetratricopeptide repeat domain 37 11 11 8
TYRP1 Tyrosinase-related protein 1 73 30 36
UBIAD1 UbiA prenyltransferase domain containing 1 60 24 60
WT1 Wilms tumor 1 25 17 25
  Total of 134 gene entries 24033 3676 16286