Congenital Kyphosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0265673
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Genes

52 genes associated with the disease Congenital Kyphosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
APH1A APH1A gamma secretase subunit
ASF1A anti-silencing function 1A histone chaperone
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1
BBX bobby sox homolog (Drosophila)
BEST1 bestrophin 1
BMP2 bone morphogenetic protein 2
CALR calreticulin
CAPG capping protein (actin filament), gelsolin-like
CD38 CD38 molecule
CD46 CD46 molecule, complement regulatory protein
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD6 CD6 molecule
CHPT1 choline phosphotransferase 1
CLEC3B C-type lectin domain family 3, member B
CRP C-reactive protein, pentraxin-related
DAO D-amino-acid oxidase
DHDDS dehydrodolichyl diphosphate synthase
DMD dystrophin
DYSF dysferlin
EPHA2 EPH receptor A2
EPHB2 EPH receptor B2
FBN1 fibrillin 1
FGFR3 fibroblast growth factor receptor 3
FHL1 four and a half LIM domains 1
HLA-B major histocompatibility complex, class I, B
IDUA iduronidase, alpha-L-
IGFBP7 insulin-like growth factor binding protein 7
IL6 interleukin 6
LBP lipopolysaccharide binding protein
LGALS1 lectin, galactoside-binding, soluble, 1
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MPEG1 macrophage expressed 1
NCOA5 nuclear receptor coactivator 5
PARP1 poly (ADP-ribose) polymerase 1
PCNA proliferating cell nuclear antigen
PGR progesterone receptor
PKD2L1 polycystic kidney disease 2-like 1
PLAT plasminogen activator, tissue
RPS27 ribosomal protein S27
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SFPQ splicing factor proline/glutamine-rich
SHOX short stature homeobox
SMAD3 SMAD family member 3
SMS spermine synthase
THBS1 thrombospondin 1
TRIM21 tripartite motif containing 21
TSC2 tuberous sclerosis 2
TTK TTK protein kinase
UBL4A ubiquitin-like 4A
UTRN utrophin