abnormality of the systemic arterial tree Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. (Human Phenotype Ontology, HP_0011004)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011004
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Genes

234 genes associated with the abnormality of the systemic arterial tree 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
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
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
ACVR2B activin A receptor, type IIB
ACVRL1 activin A receptor type II-like 1
ADK adenosine kinase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGXT alanine-glyoxylate aminotransferase
AKT2 v-akt murine thymoma viral oncogene homolog 2
AMER1 APC membrane recruitment protein 1
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
BEST1 bestrophin 1
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF57 chromosome 12 open reading frame 57
C4A complement component 4A (Rodgers blood group)
CALR calreticulin
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCDC22 coiled-coil domain containing 22
CECR1 cat eye syndrome chromosome region, candidate 1
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMT catechol-O-methyltransferase
COX1
COX2
COX3
CREBBP CREB binding protein
CRELD1 cysteine-rich with EGF-like domains 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CST3 cystatin C
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DSE dermatan sulfate epimerase
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPOR erythropoietin receptor
ERCC4 excision repair cross-complementation group 4
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXF1 forkhead box F1
GAA glucosidase, alpha; acid
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GCDH glutaryl-CoA dehydrogenase
GDF2 growth differentiation factor 2
GJA1 gap junction protein, alpha 1, 43kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HCCS holocytochrome c synthase
HDAC4 histone deacetylase 4
HGD homogentisate 1,2-dioxygenase
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HNF1B HNF1 homeobox B
HOXA1 homeobox A1
HRAS Harvey rat sarcoma viral oncogene homolog
HTRA1 HtrA serine peptidase 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
JAG1 jagged 1
JAK2 Janus kinase 2
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF1B kinesin family member 1B
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LCAT lecithin-cholesterol acyltransferase
LEMD3 LEM domain containing 3
LHX1 LIM homeobox 1
LIMK1 LIM domain kinase 1
LIPC lipase, hepatic
LMNA lamin A/C
LPL lipoprotein lipase
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MEFV Mediterranean fever
MKS1 Meckel syndrome, type 1
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
MYLK myosin light chain kinase
ND1
NF1 neurofibromin 1
NKX2-5 NK2 homeobox 5
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH3 notch 3
NR2F2 nuclear receptor subfamily 2, group F, member 2
NT5E 5'-nucleotidase, ecto (CD73)
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PPARG peroxisome proliferator-activated receptor gamma
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKG1 protein kinase, cGMP-dependent, type I
PRPF3 pre-mRNA processing factor 3
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRTN3 proteinase 3
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM8A RNA binding motif protein 8A
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS19 ribosomal protein S19
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
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SH2B3 SH2B adaptor protein 3
SKI SKI proto-oncogene
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
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMAD6 SMAD family member 6
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNAP29 synaptosomal-associated protein, 29kDa
SRCAP Snf2-related CREBBP activator protein
STAT4 signal transducer and activator of transcription 4
STRA6 stimulated by retinoic acid 6
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TALDO1 transaldolase 1
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX20 T-box 20
TBX5 T-box 5
TET2 tet methylcytosine dioxygenase 2
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
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
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
ZMPSTE24 zinc metallopeptidase STE24