Moyamoya Disease Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
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29 genes associated with the Moyamoya Disease phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ANXA1 annexin A1
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CRABP1 cellular retinoic acid binding protein 1
CXCL12 chemokine (C-X-C motif) ligand 12
ELN elastin
FGF2 fibroblast growth factor 2 (basic)
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
KDR kinase insert domain receptor
LIMK1 LIM domain kinase 1
MIA3 melanoma inhibitory activity family, member 3
MIR196A2 microRNA 196a-2
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
NOS3 nitric oxide synthase 3 (endothelial cell)
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PSRC1 proline/serine-rich coiled-coil 1
RNF213 ring finger protein 213
SMAD3 SMAD family member 3
TGFB1 transforming growth factor, beta 1
TIMP2 TIMP metallopeptidase inhibitor 2
VEGFA vascular endothelial growth factor A