abnormality of cerebral artery Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. (Human Phenotype Ontology, HP_0009145)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009145
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Genes

85 genes associated with the abnormality of cerebral artery phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTG1 actin gamma 1
ACVRL1 activin A receptor type II-like 1
APP amyloid beta (A4) precursor protein
BAZ1B bromodomain adjacent to zinc finger domain, 1B
C4A complement component 4A (Rodgers blood group)
CALR calreticulin
CBS cystathionine-beta-synthase
CECR1 cat eye syndrome chromosome region, candidate 1
CLIP2 CAP-GLY domain containing linker protein 2
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COX1
COX2
COX3
CST3 cystatin C
CTLA4 cytotoxic T-lymphocyte-associated protein 4
ELN elastin
ENG endoglin
EPOR erythropoietin receptor
GAA glucosidase, alpha; acid
GCDH glutaryl-CoA dehydrogenase
GDF2 growth differentiation factor 2
GLA galactosidase, alpha
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HOXA1 homeobox A1
HTRA1 HtrA serine peptidase 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
JAK2 Janus kinase 2
LIMK1 LIM domain kinase 1
MEFV Mediterranean fever
MLX MLX, MAX dimerization protein
MPL MPL proto-oncogene, thrombopoietin receptor
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MYD88 myeloid differentiation primary response 88
MYH7 myosin, heavy chain 7, cardiac muscle, beta
ND1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH3 notch 3
PCNT pericentrin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RFC2 replication factor C (activator 1) 2, 40kDa
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SH2B3 SH2B adaptor protein 3
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD4 SMAD family member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNAP29 synaptosomal-associated protein, 29kDa
STAT4 signal transducer and activator of transcription 4
TBL2 transducin (beta)-like 2
TET2 tet methylcytosine dioxygenase 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THPO thrombopoietin
TLR4 toll-like receptor 4
TNXB tenascin XB
TP53 tumor protein p53
TREX1 three prime repair exonuclease 1