stroke Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. (Human Disease Ontology, DOID_6713)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001297
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Genes

33 genes associated with the stroke 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
ACVRL1 activin A receptor type II-like 1
APP amyloid beta (A4) precursor protein
ASS1 argininosuccinate synthase 1
CBS cystathionine-beta-synthase
CCM2 cerebral cavernous malformation 2
CECR1 cat eye syndrome chromosome region, candidate 1
COL4A1 collagen, type IV, alpha 1
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CST3 cystatin C
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
ENG endoglin
FLNA filamin A, alpha
GLA galactosidase, alpha
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
JAG1 jagged 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYH11 myosin, heavy chain 11, smooth muscle
NOTCH3 notch 3
OTC ornithine carbamoyltransferase
PMM2 phosphomannomutase 2
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SLC19A2 solute carrier family 19 (thiamine 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
STIM1 stromal interaction molecule 1
TREX1 three prime repair exonuclease 1
TTR transthyretin
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WFS1 Wolfram syndrome 1 (wolframin)