LOVD - Current system status

2021/11/27 21:24:19 IST - Saturday, November 27th 2021

Gene symbol Gene name Total variants Unique variants
AKT1 v-akt murine thymoma viral oncogene homolog 1 0 0
ALOX5 Arachidonate 5-lipoxygenase 0 0
BTNL2 butyrophilin-like 2 (MHC class II associated) 0 0
CCL1 Chemokine (C-C motif) ligand 1 0 0
CCL2 Chemokine (C-C motif) ligand 2 0 0
CCL5 chemokine (C-C motif) ligand 5 0 0
CD14 CD14 molecule 0 0
CD209 CD209 molecule 0 0
CHIT1 Chitinase 1 (chitotriosidase) 0 0
CISH cytokine inducible SH2-containing protein 0 0
CR1 complement component (3b/4b) receptor 1 (Knops blood group) 0 0
CTSZ cathepsin Z 0 0
CXCL12 chemokine (C-X-C motif) ligand 12 0 0
EBF1 early B-cell factor 1 0 0
EREG Epiregulin 0 0
ERP44 endoplasmic reticulum protein 44 0 0
HAUS6 HAUS augmin-like complex, subunit 6 0 0
HLAA major histocompatibility complex, class I, A 0 0
HLAB major histocompatibility complex, class I, B 0 0
HLAC major histocompatibility complex, class I, C 0 0
HLADPB1 Major histocompatibility complex, class II, DP beta 1 0 0
HLADQA1 major histocompatibility complex, class II, DQ alpha 1 0 0
HLADQB1 Major histocompatibility complex, class II, DQ beta 1 0 0
HLADRB1 major histocompatibility complex, class II, DR beta 1 0 0
IFNG Interferon gamma 1 1
IFNGR1 Interferon gamma receptor 1 0 0
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) 0 0
IL10 Interleukin 10 1 1
IL10RA interleukin 10 receptor, alpha 0 0
IL12B Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lympho 0 0
IL12RB1 Interleukin 12 receptor, beta 1 0 0
IL1A interleukin 1, alpha 0 0
IL1B Interleukin 1, beta 0 0
IL1R interleukin 1 receptor, type I 0 0
IL2 interleukin 2 0 0
IL4 Interleukin 4 0 0
IL6 interleukin 6 (interferon, beta 2) 0 0
IL8 interleukin 8 0 0
IRF8 interferon regulatory factor 8 0 0
IRGM immunity-related GTPase family, M 0 0
JAG1 jagged 1 0 0
LTA lymphotoxin alpha (TNF superfamily, member 1) 0 0
MARCO macrophage receptor with collagenous structure 0 0
MBL2 Mannose-binding lectin (protein C) 2, soluble (opsonic defect) 1 1
MC3R Melanocortin 3 receptor 0 0
MIF Macrophage migration inhibitory factor (glycosylation-inhibiting factor) 0 0
NOD2 Nucleotide-binding oligomerization domain containing 2 0 0
NOS2 Nitric oxide synthase 2, inducible 0 0
P2RX7 purinergic receptor P2X, ligand-gated ion channel, 7 0 0
PENK proenkephalin 0 0
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctiona 0 0
PTPN22 Protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 0 0
SFTPA1 surfactant protein A1 0 0
SFTPA2 surfactant protein A2 0 0
SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporters), 0 0
SLC22A5 Solute carrier family 22 (organic cation/carnitine transporter), member 5 0 0
SP110 SP110 nuclear body protein 0 0
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 0 0
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0 0
TIRAP Toll-interleukin 1 receptor (TIR) domain containing adaptor protein 0 0
TLR1 toll-like receptor 1 0 0
TLR2 Toll-like receptor 2 0 0
TLR4 Toll-like receptor 4 0 0
TLR6 toll-like receptor 6 0 0
TLR8 toll-like receptor 8 0 0
TLR9 toll-like receptor 9 0 0
TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2 0 0
TNF tumor necrosis factor 0 0
TNFRSF1A Tumor necrosis factor receptor superfamily, member 1A 0 0
TNFRSF1B Tumor necrosis factor receptor superfamily, member 1B 0 0
VDR Vitamin D (1,25- dihydroxyvitamin D3) Receptor 0 0
  Total of 71 gene entries 3 3