Moyamoya Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. (Human Disease Ontology, DOID_13099)
External Link https://www.disgenet.org/browser/0/1/0/C1837418
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Genes

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

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANGPT2 angiopoietin 2
APLN apelin
APOE apolipoprotein E
ASL argininosuccinate lyase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRCA1 breast cancer 1, early onset
BRCC3 BRCA1/BRCA2-containing complex, subunit 3
CARD14 caspase recruitment domain family, member 14
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCER2 coiled-coil glutamate-rich protein 2
CCL2 chemokine (C-C motif) ligand 2
CCL5 chemokine (C-C motif) ligand 5
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD163 CD163 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CEBPZ CCAAT/enhancer binding protein (C/EBP), zeta
CFDP1 craniofacial development protein 1
CFH complement factor H
CLU clusterin
CMC4 C-x(9)-C motif containing 4
CNOT3 CCR4-NOT transcription complex, subunit 3
CRABP1 cellular retinoic acid binding protein 1
CRLF1 cytokine receptor-like factor 1
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CXCL5 chemokine (C-X-C motif) ligand 5
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR6 chemokine (C-X-C motif) receptor 6
DFFA DNA fragmentation factor, 45kDa, alpha polypeptide
DOCK9 dedicator of cytokinesis 9
DSC3 desmocollin 3
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ECD ecdysoneless homolog (Drosophila)
ELN elastin
EMD emerin
EPO erythropoietin
FBXO25 F-box protein 25
FLG filaggrin
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
GEN1 GEN1 Holliday junction 5' flap endonuclease
GJA1 gap junction protein, alpha 1, 43kDa
GLA galactosidase, alpha
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HP haptoglobin
HTRA1 HtrA serine peptidase 1
IL10 interleukin 10
IL1B interleukin 1, beta
JAG1 jagged 1
JAZF1 JAZF zinc finger 1
KDR kinase insert domain receptor
LAMC2 laminin, gamma 2
LRP1 low density lipoprotein receptor-related protein 1
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2
MMD monocyte to macrophage differentiation-associated
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MRVI1 murine retrovirus integration site 1 homolog
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYLK myosin light chain kinase
MYRF myelin regulatory factor
NF1 neurofibromin 1
NLN neurolysin (metallopeptidase M3 family)
NOS3 nitric oxide synthase 3 (endothelial cell)
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
OGFR opioid growth factor receptor
PCNT pericentrin
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PENK proenkephalin
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4
RNF213 ring finger protein 213
RPSA ribosomal protein SA
RPTOR regulatory associated protein of MTOR, complex 1
SAMHD1 SAM domain and HD domain 1
SBF2 SET binding factor 2
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SETD5 SET domain containing 5
SGCE sarcoglycan, epsilon
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIX3 SIX homeobox 3
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMPDL3B sphingomyelin phosphodiesterase, acid-like 3B
SPTAN1 spectrin, alpha, non-erythrocytic 1
STAMBPL1 STAM binding protein-like 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TCN2 transcobalamin II
TGFB1 transforming growth factor, beta 1
TGIF1 TGFB-induced factor homeobox 1
THBD thrombomodulin
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP4 TIMP metallopeptidase inhibitor 4
TSC22D2 TSC22 domain family, member 2
USP15 ubiquitin specific peptidase 15
VEGFA vascular endothelial growth factor A