Macrothrombocytopenia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C2751260
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Genes

33 genes associated with the disease Macrothrombocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACTB actin, beta
ACTN1 actinin, alpha 1
C6ORF25 chromosome 6 open reading frame 25
CDC42 cell division cycle 42
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
DIAPH1 diaphanous-related formin 1
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLNA filamin A, alpha
GATA1 GATA binding protein 1 (globin transcription factor 1)
GFI1B growth factor independent 1B transcription repressor
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP9 glycoprotein IX (platelet)
IMMT inner membrane protein, mitochondrial
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KRAS Kirsten rat sarcoma viral oncogene homolog
MYH2 myosin, heavy chain 2, skeletal muscle, adult
MYH9 myosin, heavy chain 9, non-muscle
NBEAL2 neurobeachin-like 2
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PDLIM5 PDZ and LIM domain 5
PRB2 proline-rich protein BstNI subfamily 2
PRKACG protein kinase, cAMP-dependent, catalytic, gamma
SEPT5 septin 5
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
TPM4 tropomyosin 4
TRPM7 transient receptor potential cation channel, subfamily M, member 7
TUBB1 tubulin, beta 1 class VI
VWF von Willebrand factor
WDR1 WD repeat domain 1