abnormality of the cerebral vasculature Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100659
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACAD9 acyl-CoA dehydrogenase family, member 9
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTG1 actin gamma 1
ACVRL1 activin A receptor type II-like 1
AIRE autoimmune regulator
ALPL alkaline phosphatase, liver/bone/kidney
ANTXR1 anthrax toxin receptor 1
APP amyloid beta (A4) precursor protein
ASS1 argininosuccinate synthase 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAZ1B bromodomain adjacent to zinc finger domain, 1B
C4A complement component 4A (Rodgers blood group)
CALR calreticulin
CBS cystathionine-beta-synthase
CCDC8 coiled-coil domain containing 8
CCM2 cerebral cavernous malformation 2
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
COL4A2 collagen, type IV, alpha 2
COX1
COX2
COX3
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT2 carnitine palmitoyltransferase 2
CST3 cystatin C
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CUL7 cullin 7
DOCK8 dedicator of cytokinesis 8
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
ELN elastin
ENG endoglin
EPOR erythropoietin receptor
F10 coagulation factor X
F13A1 coagulation factor XIII, A1 polypeptide
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
FLNA filamin A, alpha
FN1 fibronectin 1
GAA glucosidase, alpha; acid
GATA2 GATA binding protein 2
GBA glucosidase, beta, 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
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
IVD isovaleryl-CoA dehydrogenase
JAG1 jagged 1
JAK2 Janus kinase 2
KIF1B kinesin family member 1B
KRIT1 KRIT1, ankyrin repeat containing
LIMK1 LIM domain kinase 1
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
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
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MUT methylmalonyl CoA mutase
MYD88 myeloid differentiation primary response 88
MYH11 myosin, heavy chain 11, smooth muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
ND1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH3 notch 3
OBSL1 obscurin-like 1
OTC ornithine carbamoyltransferase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCNT pericentrin
PDCD10 programmed cell death 10
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
PMM2 phosphomannomutase 2
PNP purine nucleoside phosphorylase
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PRTN3 proteinase 3
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RNF213 ring finger protein 213
SCN5A sodium channel, voltage gated, type V alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
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
STIM1 stromal interaction molecule 1
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
TTR transthyretin
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WAS Wiskott-Aldrich syndrome
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
WRN Werner syndrome, RecQ helicase-like