Situs Inversus Totalis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C4551493
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Genes

102 genes associated with the disease Situs Inversus Totalis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
ARL13B ADP-ribosylation factor-like 13B
ARL3 ADP-ribosylation factor-like 3
ARMC4 armadillo repeat containing 4
ARMC9 armadillo repeat containing 9
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
C11ORF70 chromosome 11 open reading frame 70
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CCDC103 coiled-coil domain containing 103
CCDC151 coiled-coil domain containing 151
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCNO cyclin O
CEP104 centrosomal protein 104kDa
CEP120 centrosomal protein 120kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP55 centrosomal protein 55kDa
CFAP298 cilia and flagella associated protein 298
CFAP53 cilia and flagella associated protein 53
CFC1 cripto, FRL-1, cryptic family 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
DNAAF4 dynein axonemal assembly factor 4
DNAAF5 dynein, axonemal, assembly factor 5
DNAH1 dynein, axonemal, heavy chain 1
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAH7 dynein, axonemal, heavy chain 7
DNAH9 dynein, axonemal, heavy chain 9
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAJB13 DnaJ (Hsp40) homolog, subfamily B, member 13
DNAL1 dynein, axonemal, light chain 1
DRC1 dynein regulatory complex subunit 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAM187A family with sequence similarity 187, member A
GAS2L2 growth arrest-specific 2 like 2
GAS8 growth arrest-specific 8
GDF1 growth differentiation factor 1
GLI1 GLI family zinc finger 1
HES7 hes family bHLH transcription factor 7
HYDIN HYDIN, axonemal central pair apparatus protein
HYLS1 hydrolethalus syndrome 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF6 interferon regulatory factor 6
KIAA0556 KIAA0556
KIAA0586 KIAA0586
LRRC56 leucine rich repeat containing 56
LRRC6 leucine rich repeat containing 6
MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein
MKS1 Meckel syndrome, type 1
MMP21 matrix metallopeptidase 21
MSX1 msh homeobox 1
NECTIN1 nectin cell adhesion molecule 1
NME7 NME/NM23 family member 7
NME8 NME/NM23 family member 8
NPHP3 nephronophthisis 3 (adolescent)
ODAD1 outer dynein arm docking complex subunit 1
OFD1 oral-facial-digital syndrome 1
OTX2 orthodenticle homeobox 2
PIBF1 progesterone immunomodulatory binding factor 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIH1D3 PIH1 domain containing 3
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD1L1 polycystic kidney disease 1 like 1
PKD2 polycystic kidney disease 2 (autosomal dominant)
PQBP1 polyglutamine binding protein 1
PRRX1 paired related homeobox 1
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH3 radial spoke 3 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
SPAG1 sperm associated antigen 1
STK36 serine/threonine kinase 36
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TMEM107 transmembrane protein 107
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TP63 tumor protein p63
TTC25 tetratricopeptide repeat domain 25
UBR1 ubiquitin protein ligase E3 component n-recognin 1
USP11 ubiquitin specific peptidase 11
UVRAG UV radiation resistance associated
WDPCP WD repeat containing planar cell polarity effector
WT1 Wilms tumor 1
ZIC3 Zic family member 3
ZMYND10 zinc finger, MYND-type containing 10