The Globin Gene Server
LOVD v.2.0 Build 38 [
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Variant listing based on patient origin
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ALOX5AP (arachidonate 5-lipoxygenase-activating protein)
AQP9 (aquaporin 9)
ARG2 (arginase, type II)
ASS1 (argininosuccinate synthetase 1)
ATRX (alpha thalassemia/mental retardation syndrome X-linked)
BCL11A (B-cell CLL/lymphoma 11A)
CNTNAP2 (contactin associated protein-like 2)
CSNK2A1 (casein kinase 2, alpha 1 polypeptide)
EPAS1 (endothelial PAS domain protein 1)
ERCC2 (excision repair cross-complementing rodent repair deficiency, complementati)
FLT1 (fms-related tyrosine kinase 1)
GATA1 (GATA binding protein 1 (globin transcription factor 1))
GPM6B (glycoprotein M6B)
HAO2 (hydroxyacid oxidase 2 (long chain))
HBA1 (alpha-1 globin)
HBA2 (alpha-2 globin)
HBB (beta globin)
HBD (delta globin)
HBG1 (A-gamma globin)
HBG2 (G-gamma globin)
HBS1L (HBS1-like)
KDR (kinase insert domain receptor)
KL (klotho)
KLF1 (Kruppel-like factor 1 (erythroid))
MAP2K1 (mitogen-activated protein kinase kinase 1)
MAP3K5 (mitogen-activated protein kinase kinase kinase 5)
MAP3K7 (mitogen-activated protein kinase kinase kinase 7)
MYB (Homo sapiens v-myb myeloblastosis viral oncogene homolog)
NOS1 (nitric oxide synthase 1 (neuronal))
NOS2 (nitric oxide synthase 2, inducible)
NOS3 (nitric oxide synthase 3 (endothelial cell))
NOX3 (NADPH oxidase 3)
NUP133 (nucleoporin 133kDa)
PDE7B (phosphodiesterase 7B)
SMAD3 (SMAD family member 3)
SMAD6 (SMAD family member 6)
TOX (thymocyte selection-associated high mobility group box)
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LOVD v.2.0
Build 38
©2004-2019
Leiden University Medical Center