failure of heart looping Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description failure of the primitive heart tube to loop asymmetrically during early development (Mammalian Phenotype Ontology, MP_0004251)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004251
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Genes

38 gene mutations causing the failure of heart looping phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
BCOR BCL6 corepressor
CCM2 cerebral cavernous malformation 2
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DISP1 dispatched homolog 1 (Drosophila)
ENG endoglin
EPHB4 EPH receptor B4
FGFR1 fibroblast growth factor receptor 1
FOXH1 forkhead box H1
FURIN furin (paired basic amino acid cleaving enzyme)
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HAND1 heart and neural crest derivatives expressed 1
HIRA histone cell cycle regulator
ISL1 ISL LIM homeobox 1
KDM6A lysine (K)-specific demethylase 6A
MAPK7 mitogen-activated protein kinase 7
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MIB1 mindbomb E3 ubiquitin protein ligase 1
NCSTN nicastrin
NKX2-5 NK2 homeobox 5
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
POFUT1 protein O-fucosyltransferase 1
RBL2 retinoblastoma-like 2
RDH10 retinol dehydrogenase 10 (all-trans)
RERE arginine-glutamic acid dipeptide (RE) repeats
SMAD5 SMAD family member 5
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
T T, brachyury homolog (mouse)
TBX20 T-box 20
TBX3 T-box 3
TBX5 T-box 5
TGFB2 transforming growth factor, beta 2
TMED2 transmembrane emp24 domain trafficking protein 2
TNNT2 troponin T type 2 (cardiac)
USP9X ubiquitin specific peptidase 9, X-linked
WASF2 WAS protein family, member 2