Congenital Thrombotic Thrombocytopenic Purpura Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description disease cluster belonging to disease group immune (Genetic Association Database)
External Link https://www.disgenet.org/browser/0/1/0/C1268935
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Genes

34 genes associated with the disease Congenital Thrombotic Thrombocytopenic Purpura in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
APOA1 apolipoprotein A-I
BRF1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CASP1 caspase 1, apoptosis-related cysteine peptidase
CCL2 chemokine (C-C motif) ligand 2
CFH complement factor H
COX2
ELAVL1 ELAV like RNA binding protein 1
EPHB1 EPH receptor B1
F3 coagulation factor III (thromboplastin, tissue factor)
FLT4 fms-related tyrosine kinase 4
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HP haptoglobin
IL33 interleukin 33
JAK2 Janus kinase 2
KCNH8 potassium channel, voltage gated eag related subfamily H, member 8
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RBM45 RNA binding motif protein 45
S100B S100 calcium binding protein B
SH3BP4 SH3-domain binding protein 4
SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
THBD thrombomodulin
THBS1 thrombospondin 1
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNS3 tensin 3
VWF von Willebrand factor
ZFP36 ZFP36 ring finger protein