conotruncal defect Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. (Human Phenotype Ontology, HP_0001710)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001710
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Genes

82 genes associated with the conotruncal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALX3 ALX homeobox 3
ARHGAP31 Rho GTPase activating protein 31
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CCDC22 coiled-coil domain containing 22
CFC1 cripto, FRL-1, cryptic family 1
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLIP2 CAP-GLY domain containing linker protein 2
COL2A1 collagen, type II, alpha 1
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DOCK6 dedicator of cytokinesis 6
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
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
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXC2 forkhead box C2
FOXF1 forkhead box F1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GJA5 gap junction protein, alpha 5, 40kDa
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIRA histone cell cycle regulator
HOXD13 homeobox D13
JAG1 jagged 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIAA0196 KIAA0196
LIMK1 LIM domain kinase 1
MKKS McKusick-Kaufman syndrome
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
NOTCH1 notch 1
NR2F2 nuclear receptor subfamily 2, group F, member 2
PALB2 partner and localizer of BRCA2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
RAB23 RAB23, member RAS oncogene family
RAD51C RAD51 paralog C
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RFC2 replication factor C (activator 1) 2, 40kDa
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL11 ribosomal protein L11
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHH sonic hedgehog
SKI SKI proto-oncogene
SLX4 SLX4 structure-specific endonuclease subunit
STRA6 stimulated by retinoic acid 6
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TTC37 tetratricopeptide repeat domain 37
UFD1L ubiquitin fusion degradation 1 like (yeast)
WT1 Wilms tumor 1
ZFPM2 zinc finger protein, FOG family member 2