heterotaxia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. (Human Disease Ontology, DOID_0050545)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004133
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Genes

62 gene mutations causing the heterotaxia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR2B activin A receptor, type IIB
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ARMC4 armadillo repeat containing 4
ATMIN ATM interactor
BICC1 BicC family RNA binding protein 1
C1ORF127 chromosome 1 open reading frame 127
CC2D2A coiled-coil and C2 domain containing 2A
CCDC151 coiled-coil domain containing 151
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CEP290 centrosomal protein 290kDa
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
DAW1 dynein assembly factor with WDR repeat domains 1
DCTN5 dynactin 5 (p25)
DLL1 delta-like 1 (Drosophila)
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DRC1 dynein regulatory complex subunit 1
DYX1C1 dyslexia susceptibility 1 candidate 1
FOXJ1 forkhead box J1
GDF1 growth differentiation factor 1
HHIP hedgehog interacting protein
HSPB11 heat shock protein family B (small), member 11
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT27 intraflagellar transport 27
IFT74 intraflagellar transport 74
INVS inversin
KIF3A kinesin family member 3A
LEFTY1 left-right determination factor 1
LEFTY2 left-right determination factor 2
MBD4 methyl-CpG binding domain protein 4
MEGF8 multiple EGF-like-domains 8
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MKS1 Meckel syndrome, type 1
MMP21 matrix metallopeptidase 21
MNS1 meiosis-specific nuclear structural 1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEK8 NIMA-related kinase 8
NME7 NME/NM23 family member 7
NODAL nodal growth differentiation factor
PCSK5 proprotein convertase subtilisin/kexin type 5
PCSK6 proprotein convertase subtilisin/kexin type 6
PITX2 paired-like homeodomain 2
PKD1L1 polycystic kidney disease 1 like 1
PKD2 polycystic kidney disease 2 (autosomal dominant)
PSKH1 protein serine kinase H1
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RPGRIP1L RPGRIP1-like
TBC1D32 TBC1 domain family, member 32
TCTN2 tectonic family member 2
TGIF1 TGFB-induced factor homeobox 1
TMEM67 transmembrane protein 67
ZIC3 Zic family member 3