Bernard-Soulier Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_2217)
External Link https://www.disgenet.org/browser/0/1/0/C1856447
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Genes

45 genes associated with the disease Bernard-Soulier Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ADIPOQ adiponectin, C1Q and collagen domain containing
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
C3 complement component 3
C4BPA complement component 4 binding protein, alpha
CARD14 caspase recruitment domain family, member 14
CASP1 caspase 1, apoptosis-related cysteine peptidase
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
F11 coagulation factor XI
F2 coagulation factor II (thrombin)
FBLN1 fibulin 1
FGFR2 fibroblast growth factor receptor 2
FN1 fibronectin 1
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP5 glycoprotein V (platelet)
GP9 glycoprotein IX (platelet)
GRAP2 GRB2-related adaptor protein 2
IL1B interleukin 1, beta
IL4R interleukin 4 receptor
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
LGALS8 lectin, galactoside-binding, soluble, 8
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MYH9 myosin, heavy chain 9, non-muscle
NLRP3 NLR family, pyrin domain containing 3
PF4 platelet factor 4
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PRB2 proline-rich protein BstNI subfamily 2
PRDX2 peroxiredoxin 2
PRNP prion protein
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RYR1 ryanodine receptor 1 (skeletal)
SEPT5 septin 5
THPO thrombopoietin
TPO thyroid peroxidase
TRAP triiodothyronine receptor auxiliary protein
VWF von Willebrand factor
XYLT1 xylosyltransferase I