Spondylocarpotarsal Synostosis Syndrome Gene Set
Genes
36 genes associated with the disease Spondylocarpotarsal Synostosis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACTB
|
actin, beta
|
|
ADI1
|
acireductone dioxygenase 1
|
|
AFP
|
alpha-fetoprotein
|
|
AIF1
|
allograft inflammatory factor 1
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
CAT
|
catalase
|
|
CCND1
|
cyclin D1
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CS
|
citrate synthase
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
EXOC2
|
exocyst complex component 2
|
|
FLNB
|
filamin B, beta
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
HBB
|
hemoglobin, beta
|
|
HBG2
|
hemoglobin, gamma G
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
IL10
|
interleukin 10
|
|
IL6
|
interleukin 6
|
|
INSRR
|
insulin receptor-related receptor
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NIPSNAP3B
|
nipsnap homolog 3B (C. elegans)
|
|
NTF3
|
neurotrophin 3
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
RFLNA
|
refilin A
|
|
SCT
|
secretin
|
|
SERBP1
|
SERPINE1 mRNA binding protein 1
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
TMEM175
|
transmembrane protein 175
|
|
TNF
|
tumor necrosis factor
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
VCAM1
|
vascular cell adhesion molecule 1
|
|
ZNF664-RFLNA
|
ZNF664-RFLNA readthrough
|
