congenital malformation of the great 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:0011603
Similar Terms
Downloads & Tools

Genes

138 genes associated with the congenital malformation of the great arteries phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTB actin, beta
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
AGGF1 angiogenic factor with G patch and FHA domains 1
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANK1 ankyrin 1, erythrocytic
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BCR breakpoint cluster region
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CD96 CD96 molecule
CFAP53 cilia and flagella associated protein 53
CFC1 cripto, FRL-1, cryptic family 1
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CLIP2 CAP-GLY domain containing linker protein 2
COL18A1 collagen, type XVIII, alpha 1
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTCF CCCTC-binding factor (zinc finger protein)
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DTNA dystrobrevin, alpha
ECE1 endothelin converting enzyme 1
ELN elastin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
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
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR3 fibroblast growth factor receptor 3
FKTN fukutin
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FTO fat mass and obesity associated
G6PC3 glucose 6 phosphatase, catalytic, 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HIRA histone cell cycle regulator
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
IGBP1 immunoglobulin (CD79A) binding protein 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
LIMK1 LIM domain kinase 1
LMNA lamin A/C
MAPK1 mitogen-activated protein kinase 1
MED13L mediator complex subunit 13-like
MEGF8 multiple EGF-like-domains 8
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MRPS16 mitochondrial ribosomal protein S16
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH11 myosin, heavy chain 11, smooth muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NEK8 NIMA-related kinase 8
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
NODAL nodal growth differentiation factor
NOTCH2 notch 2
NPHP3 nephronophthisis 3 (adolescent)
NSD1 nuclear receptor binding SET domain protein 1
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PEX1 peroxisomal biogenesis factor 1
PHGDH phosphoglycerate dehydrogenase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB23 RAB23, member RAS oncogene family
RAD51C RAD51 paralog C
RBP4 retinol binding protein 4, plasma
RFC2 replication factor C (activator 1) 2, 40kDa
SALL1 spalt-like transcription factor 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKI SKI proto-oncogene
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SOX2 SRY (sex determining region Y)-box 2
STRA6 stimulated by retinoic acid 6
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TBX5 T-box 5
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THOC6 THO complex 6
TMCO1 transmembrane and coiled-coil domains 1
TP63 tumor protein p63
TSFM Ts translation elongation factor, mitochondrial
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMPS uridine monophosphate synthetase
VANGL1 VANGL planar cell polarity protein 1
WT1 Wilms tumor 1
ZEB2 zinc finger E-box binding homeobox 2
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24