abnormalities of the peripheral arteries Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005114
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Genes

120 genes associated with the abnormalities of the peripheral arteries phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTG1 actin gamma 1
ACVRL1 activin A receptor type II-like 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGXT alanine-glyoxylate aminotransferase
AKT2 v-akt murine thymoma viral oncogene homolog 2
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BEST1 bestrophin 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C4A complement component 4A (Rodgers blood group)
CALR calreticulin
CAV1 caveolin 1, caveolae protein, 22kDa
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
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPOR erythropoietin receptor
FBLN5 fibulin 5
FOS FBJ murine osteosarcoma viral oncogene homolog
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
HGD homogentisate 1,2-dioxygenase
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
IDUA iduronidase, alpha-L-
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
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KIF1B kinesin family member 1B
LCAT lecithin-cholesterol acyltransferase
LIMK1 LIM domain kinase 1
LIPC lipase, hepatic
LMNA lamin A/C
LPL lipoprotein lipase
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
MYH11 myosin, heavy chain 11, smooth muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
ND1
NF1 neurofibromin 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH3 notch 3
PCNT pericentrin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PPARG peroxisome proliferator-activated receptor gamma
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRTN3 proteinase 3
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RET ret proto-oncogene
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
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SH2B3 SH2B adaptor protein 3
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
SNAP29 synaptosomal-associated protein, 29kDa
STAT4 signal transducer and activator of transcription 4
TBL2 transducin (beta)-like 2
TET2 tet methylcytosine dioxygenase 2
THPO thrombopoietin
TLR4 toll-like receptor 4
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TP53 tumor protein p53
TREX1 three prime repair exonuclease 1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WRN Werner syndrome, RecQ helicase-like
ZMPSTE24 zinc metallopeptidase STE24