LOVD - Current system status

2017/11/21 10:58:14 EST - Tuesday, November 21st 2017

Gene symbol Gene name Total variants Unique variants Patients
ALOX5AP arachidonate 5-lipoxygenase-activating protein 3 3 3
AQP9 aquaporin 9 1 1 1
ARG2 arginase, type II 2 2 2
ASS1 argininosuccinate synthetase 1 4 4 4
ATRX alpha thalassemia/mental retardation syndrome X-linked 162 119 162
BCL11A B-cell CLL/lymphoma 11A 9 9 9
CNTNAP2 contactin associated protein-like 2 1 1 1
CSNK2A1 casein kinase 2, alpha 1 polypeptide 1 1 1
EPAS1 endothelial PAS domain protein 1 1 1 1
ERCC2 excision repair cross-complementing rodent repair deficiency, complementati 6 6 6
FLT1 fms-related tyrosine kinase 1 12 12 12
GATA1 GATA binding protein 1 (globin transcription factor 1) 1 1 1
GPM6B glycoprotein M6B 7 7 7
HAO2 hydroxyacid oxidase 2 (long chain) 1 1 1
HBA1 alpha-1 globin 348 345 348
HBA2 alpha-2 globin 419 417 419
HBB beta globin 890 887 890
HBD delta globin 104 102 104
HBG1 A-gamma globin 51 49 51
HBG2 G-gamma globin 69 69 69
HBS1L HBS1-like 12 12 12
KDR kinase insert domain receptor 4 4 4
KL klotho 5 5 5
KLF1 Kruppel-like factor 1 (erythroid) 39 36 30
MAP2K1 mitogen-activated protein kinase kinase 1 1 1 1
MAP3K5 mitogen-activated protein kinase kinase kinase 5 2 2 2
MAP3K7 mitogen-activated protein kinase kinase kinase 7 2 2 2
MYB Homo sapiens v-myb myeloblastosis viral oncogene homolog 12 12 12
NOS1 nitric oxide synthase 1 (neuronal) 6 6 6
NOS2 nitric oxide synthase 2, inducible 2 2 2
NOS3 nitric oxide synthase 3 (endothelial cell) 3 3 3
NOX3 NADPH oxidase 3 4 4 4
NUP133 nucleoporin 133kDa 1 1 1
PDE7B phosphodiesterase 7B 4 4 4
SMAD3 SMAD family member 3 2 2 2
SMAD6 SMAD family member 6 4 4 4
TOX thymocyte selection-associated high mobility group box 21 21 21
  Total of 37 gene entries 2216 2158 2207