situs inversus totalis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. (Human Phenotype Ontology, HP_0001696)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001696
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Genes

67 genes associated with the situs inversus totalis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTG2 actin, gamma 2, smooth muscle, enteric
AHI1 Abelson helper integration site 1
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ARL13B ADP-ribosylation factor-like 13B
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARMC4 armadillo repeat containing 4
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
C21ORF59 chromosome 21 open reading frame 59
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CFAP53 cilia and flagella associated protein 53
CFC1 cripto, FRL-1, cryptic family 1
COL18A1 collagen, type XVIII, alpha 1
CSPP1 centrosome and spindle pole associated protein 1
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAL1 dynein, axonemal, light chain 1
DYX1C1 dyslexia susceptibility 1 candidate 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
GDF1 growth differentiation factor 1
HES7 hes family bHLH transcription factor 7
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LMNA lamin A/C
LRRC6 leucine rich repeat containing 6
MEGF8 multiple EGF-like-domains 8
MKS1 Meckel syndrome, type 1
NEK8 NIMA-related kinase 8
NELFA negative elongation factor complex member A
NODAL nodal growth differentiation factor
OTX2 orthodenticle homeobox 2
PIEZO2 piezo-type mechanosensitive ion channel component 2
PQBP1 polyglutamine binding protein 1
PRRX1 paired related homeobox 1
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SPAG1 sperm associated antigen 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
UBR1 ubiquitin protein ligase E3 component n-recognin 1
WDPCP WD repeat containing planar cell polarity effector
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WT1 Wilms tumor 1
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24
ZMYND10 zinc finger, MYND-type containing 10
ZNF423 zinc finger protein 423