Cerebral Amyloid Angiopathy Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. (Human Disease Ontology, DOID_9246)
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95 genes associated with the Cerebral Amyloid Angiopathy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
A2ML1 alpha-2-macroglobulin-like 1
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACE angiotensin I converting enzyme
ADIRF adipogenesis regulatory factor
AGER advanced glycosylation end product-specific receptor
AIF1 allograft inflammatory factor 1
ALG10 ALG10, alpha-1,2-glucosyltransferase
ANGPT4 angiopoietin 4
APOE apolipoprotein E
APOO apolipoprotein O
APP amyloid beta (A4) precursor protein
AQP10 aquaporin 10
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BMS1 BMS1 ribosome biogenesis factor
BRD2 bromodomain containing 2
BTN3A2 butyrophilin, subfamily 3, member A2
C12ORF57 chromosome 12 open reading frame 57
CA9 carbonic anhydrase IX
CAMK2G calcium/calmodulin-dependent protein kinase II gamma
CCDC167 coiled-coil domain containing 167
CCDC22 coiled-coil domain containing 22
CCND3 cyclin D3
CCNY cyclin Y
CD5L CD5 molecule-like
CFP complement factor properdin
CH25H cholesterol 25-hydroxylase
CNTFR ciliary neurotrophic factor receptor
COL11A2 collagen, type XI, alpha 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
CPB2 carboxypeptidase B2 (plasma)
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CSPG4 chondroitin sulfate proteoglycan 4
CST8 cystatin 8 (cystatin-related epididymal specific)
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18
CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
DXO decapping exoribonuclease
EFNA3 ephrin-A3
ENO2 enolase 2 (gamma, neuronal)
FOCAD focadhesin
FRS3 fibroblast growth factor receptor substrate 3
FTCD formimidoyltransferase cyclodeaminase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GCM1 glial cells missing homolog 1 (Drosophila)
GHR growth hormone receptor
GRPR gastrin-releasing peptide receptor
HLA-DRA major histocompatibility complex, class II, DR alpha
IL1A interleukin 1, alpha
IL33 interleukin 33
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
JAG1 jagged 1
KIAA1161 KIAA1161
KIAA1462 KIAA1462
KRT8 keratin 8, type II
LINC00654 long intergenic non-protein coding RNA 654
LRP1 low density lipoprotein receptor-related protein 1
MMP9 matrix metallopeptidase 9
MTPAP mitochondrial poly(A) polymerase
MYO10 myosin X
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
P3H3 prolyl 3-hydroxylase 3
PCNT pericentrin
PDLIM1 PDZ and LIM domain 1
PHF1 PHD finger protein 1
PI4KB phosphatidylinositol 4-kinase, catalytic, beta
PITX3 paired-like homeodomain 3
PON1 paraoxonase 1
PTMS parathymosin
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PYGB phosphorylase, glycogen; brain
RRNAD1 ribosomal RNA adenine dimethylase domain containing 1
RRP1 ribosomal RNA processing 1
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SIGMAR1 sigma non-opioid intracellular receptor 1
SIT1 signaling threshold regulating transmembrane adaptor 1
SLC17A1 solute carrier family 17 (organic anion transporter), member 1
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC6A12 solute carrier family 6 (neurotransmitter transporter), member 12
SNX5 sorting nexin 5
SSX1 synovial sarcoma, X breakpoint 1
TAF8 TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa
TAPBPL TAP binding protein-like
TFF2 trefoil factor 2
TGFB1 transforming growth factor, beta 1
TMEM217 transmembrane protein 217
TNFRSF6B tumor necrosis factor receptor superfamily, member 6b, decoy
TNXB tenascin XB
TSPAN9 tetraspanin 9
VEGFA vascular endothelial growth factor A
VWA7 von Willebrand factor A domain containing 7
ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2