abnormal direction of heart looping Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description deviation from the characteristic rightward direction of looping of the primitive heart tube; frequently seen in heterotaxy syndromes (Mammalian Phenotype Ontology, MP_0004252)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004252
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31 gene mutations causing the abnormal direction of heart looping phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR2B activin A receptor, type IIB
C2CD3 C2 calcium-dependent domain containing 3
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
DAND5 DAN domain family member 5, BMP antagonist
DLL1 delta-like 1 (Drosophila)
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IFT57 intraflagellar transport 57
IFT88 intraflagellar transport 88
INVS inversin
KIAA0586 KIAA0586
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
MBD4 methyl-CpG binding domain protein 4
MEGF8 multiple EGF-like-domains 8
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MKS1 Meckel syndrome, type 1
NODAL nodal growth differentiation factor
PCSK6 proprotein convertase subtilisin/kexin type 6
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RTTN rotatin
SUFU suppressor of fused homolog (Drosophila)
TBX6 T-box 6
TMED2 transmembrane emp24 domain trafficking protein 2
TTBK2 tau tubulin kinase 2
WDR35 WD repeat domain 35
ZIC3 Zic family member 3