abnormal heart looping Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the characteristic morphogenetic movements where the primitive heart tube loops asymmetrically during early development; this looping brings the primitive heart chambers into alignment preceding their future integration (Mammalian Phenotype Ontology, MP_0000269)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000269
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Genes

96 gene mutations causing the abnormal heart looping phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR2B activin A receptor, type IIB
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
BCOR BCL6 corepressor
BMP4 bone morphogenetic protein 4
C2CD3 C2 calcium-dependent domain containing 3
CCDC160 coiled-coil domain containing 160
CCM2 cerebral cavernous malformation 2
CFC1 cripto, FRL-1, cryptic family 1
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLUAP1 clusterin associated protein 1
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DAND5 DAN domain family member 5, BMP antagonist
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DISP1 dispatched homolog 1 (Drosophila)
DLL1 delta-like 1 (Drosophila)
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EFNB2 ephrin-B2
ENG endoglin
EPHB4 EPH receptor B4
FGFR1 fibroblast growth factor receptor 1
FHOD3 formin homology 2 domain containing 3
FOXH1 forkhead box H1
FOXO1 forkhead box O1
FURIN furin (paired basic amino acid cleaving enzyme)
GATA4 GATA binding protein 4
GJC1 gap junction protein, gamma 1, 45kDa
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIRA histone cell cycle regulator
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT57 intraflagellar transport 57
IFT88 intraflagellar transport 88
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INTU inturned planar cell polarity protein
INVS inversin
ISL1 ISL LIM homeobox 1
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KDM6A lysine (K)-specific demethylase 6A
KIAA0586 KIAA0586
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
KMT2B lysine (K)-specific methyltransferase 2B
LBX1 ladybird homeobox 1
MAPK7 mitogen-activated protein kinase 7
MBD4 methyl-CpG binding domain protein 4
MECOM MDS1 and EVI1 complex locus
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MESP1 mesoderm posterior basic helix-loop-helix transcription factor 1
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKS1 Meckel syndrome, type 1
MYL7 myosin, light chain 7, regulatory
NCSTN nicastrin
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
OVOL2 ovo-like zinc finger 2
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PCSK6 proprotein convertase subtilisin/kexin type 6
PHC1 polyhomeotic homolog 1 (Drosophila)
PKD2 polycystic kidney disease 2 (autosomal dominant)
POFUT1 protein O-fucosyltransferase 1
PTPRJ protein tyrosine phosphatase, receptor type, J
QKI QKI, KH domain containing, RNA binding
RBL2 retinoblastoma-like 2
RDH10 retinol dehydrogenase 10 (all-trans)
RERE arginine-glutamic acid dipeptide (RE) repeats
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RTTN rotatin
SMAD5 SMAD family member 5
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMO smoothened, frizzled class receptor
SUFU suppressor of fused homolog (Drosophila)
T T, brachyury homolog (mouse)
TAL1 T-cell acute lymphocytic leukemia 1
TBX20 T-box 20
TBX3 T-box 3
TBX5 T-box 5
TBX6 T-box 6
TGFB2 transforming growth factor, beta 2
TMED2 transmembrane emp24 domain trafficking protein 2
TMOD1 tropomodulin 1
TNNT2 troponin T type 2 (cardiac)
TTBK2 tau tubulin kinase 2
USP9X ubiquitin specific peptidase 9, X-linked
VANGL2 VANGL planar cell polarity protein 2
WASF2 WAS protein family, member 2
WDR35 WD repeat domain 35
ZIC3 Zic family member 3