Situs Inversus Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_758)
External Link https://www.disgenet.org/browser/0/1/0/C0037221
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Genes

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

Symbol Name
ACSS2 acyl-CoA synthetase short-chain family member 2
ACTB actin, beta
ACTG2 actin, gamma 2, smooth muscle, enteric
ACVR2B activin A receptor, type IIB
AGRP agouti related neuropeptide
ANKS3 ankyrin repeat and sterile alpha motif domain containing 3
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ANXA5 annexin A5
APP amyloid beta (A4) precursor protein
ARMC4 armadillo repeat containing 4
ARTN artemin
ATF4 activating transcription factor 4
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
CASP1 caspase 1, apoptosis-related cysteine peptidase
CCDC151 coiled-coil domain containing 151
CCL3 chemokine (C-C motif) ligand 3
CCL4 chemokine (C-C motif) ligand 4
CCL4L1 chemokine (C-C motif) ligand 4-like 1
CCL4L2 chemokine (C-C motif) ligand 4-like 2
CCL5 chemokine (C-C motif) ligand 5
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD24 CD24 molecule
CD247 CD247 molecule
CD274 CD274 molecule
CD28 CD28 molecule
CD4 CD4 molecule
CD58 CD58 molecule
CD80 CD80 molecule
CDO1 cysteine dioxygenase type 1
CDON cell adhesion associated, oncogene regulated
CFAP52 cilia and flagella associated protein 52
CFAP53 cilia and flagella associated protein 53
CFC1 cripto, FRL-1, cryptic family 1
CH25H cholesterol 25-hydroxylase
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CXCL10 chemokine (C-X-C motif) ligand 10
CXCR4 chemokine (C-X-C motif) receptor 4
CXCR5 chemokine (C-X-C motif) receptor 5
CXCR6 chemokine (C-X-C motif) receptor 6
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH7 dynein, axonemal, heavy chain 7
DNAH9 dynein, axonemal, heavy chain 9
DNAI1 dynein, axonemal, intermediate chain 1
DNM1L dynamin 1-like
DPP4 dipeptidyl-peptidase 4
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
ENKUR enkurin, TRPC channel interacting protein
F3 coagulation factor III (thromboplastin, tissue factor)
FAM26F family with sequence similarity 26, member F
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FOXJ1 forkhead box J1
GCK glucokinase (hexokinase 4)
GDF1 growth differentiation factor 1
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
HAVCR2 hepatitis A virus cellular receptor 2
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HNF4A hepatocyte nuclear factor 4, alpha
IFITM3 interferon induced transmembrane protein 3
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNAR2 interferon (alpha, beta and omega) receptor 2
IFNB1 interferon, beta 1, fibroblast
IL10 interleukin 10
IL15 interleukin 15
IL17A interleukin 17A
IL18 interleukin 18
IL1B interleukin 1, beta
IL2 interleukin 2
IL21R interleukin 21 receptor
IL37 interleukin 37
IL6 interleukin 6
IL7 interleukin 7
INVS inversin
IRAK1 interleukin-1 receptor-associated kinase 1
ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4
IVNS1ABP influenza virus NS1A binding protein
KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
KLRC1 killer cell lectin-like receptor subfamily C, member 1
KLRC2 killer cell lectin-like receptor subfamily C, member 2
KMO kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LRRC6 leucine rich repeat containing 6
LTB lymphotoxin beta (TNF superfamily, member 3)
LZTFL1 leucine zipper transcription factor-like 1
MADCAM1 mucosal vascular addressin cell adhesion molecule 1
MAVS mitochondrial antiviral signaling protein
MMP21 matrix metallopeptidase 21
MNS1 meiosis-specific nuclear structural 1
MPL MPL proto-oncogene, thrombopoietin receptor
MPZ myelin protein zero
MRC1 mannose receptor, C type 1
MUC16 mucin 16, cell surface associated
NELFA negative elongation factor complex member A
NME7 NME/NM23 family member 7
NODAL nodal growth differentiation factor
NPHP3 nephronophthisis 3 (adolescent)
NPR2 natriuretic peptide receptor 2
NR0B1 nuclear receptor subfamily 0, group B, member 1
NSD2 nuclear receptor binding SET domain protein 2
OPRM1 opioid receptor, mu 1
PDLIM7 PDZ and LIM domain 7 (enigma)
PIFO primary cilia formation
PKD1L1 polycystic kidney disease 1 like 1
PKD2 polycystic kidney disease 2 (autosomal dominant)
PMP22 peripheral myelin protein 22
PPARA peroxisome proliferator-activated receptor alpha
PRKCSH protein kinase C substrate 80K-H
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
SDS serine dehydratase
SESN1 sestrin 1
SH3BP4 SH3-domain binding protein 4
SHH sonic hedgehog
SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin
SIRT1 sirtuin 1
SP1 Sp1 transcription factor
SPP1 secreted phosphoprotein 1
TBX1 T-box 1
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TRIM5 tripartite motif containing 5
WAS Wiskott-Aldrich syndrome
ZFP36 ZFP36 ring finger protein
ZIC3 Zic family member 3