abnormality of the aorta Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the aorta. (Human Phenotype Ontology, HP_0001679)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001679
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Genes

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

Symbol Name
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACTA2 actin, alpha 2, smooth muscle, aorta
ACVR2B activin A receptor, type IIB
ADK adenosine kinase
AMER1 APC membrane recruitment protein 1
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
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
CCDC22 coiled-coil domain containing 22
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
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
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
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
FOXF1 forkhead box F1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
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
HNF1B HNF1 homeobox B
HRAS Harvey rat sarcoma viral oncogene homolog
IL12B interleukin 12B
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LEMD3 LEM domain containing 3
LHX1 LIM homeobox 1
LIMK1 LIM domain kinase 1
LMNA lamin A/C
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MKS1 Meckel syndrome, type 1
MLX MLX, MAX dimerization protein
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
MYH11 myosin, heavy chain 11, smooth muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYLK myosin light chain kinase
ND1
NKX2-5 NK2 homeobox 5
NOD2 nucleotide-binding oligomerization domain containing 2
NR2F2 nuclear receptor subfamily 2, group F, member 2
PALB2 partner and localizer of BRCA2
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PRDM16 PR domain containing 16
PRKG1 protein kinase, cGMP-dependent, type I
PRPS1 phosphoribosyl pyrophosphate synthetase 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
RBM8A RNA binding motif protein 8A
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
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SKI SKI proto-oncogene
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
SRCAP Snf2-related CREBBP activator protein
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
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TNXB tenascin XB
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
WT1 Wilms tumor 1
ZMPSTE24 zinc metallopeptidase STE24