Congenital Hemivertebra Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0265677
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Genes

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

Symbol Name
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GLCT beta 3-glucosyltransferase
CCDC22 coiled-coil domain containing 22
CD38 CD38 molecule
CD6 CD6 molecule
CDK10 cyclin-dependent kinase 10
CHD7 chromodomain helicase DNA binding protein 7
DLL3 delta-like 3 (Drosophila)
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
EBP emopamil binding protein (sterol isomerase)
FANCB Fanconi anemia, complementation group B
FZD2 frizzled class receptor 2
GLI3 GLI family zinc finger 3
HES7 hes family bHLH transcription factor 7
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
JAG1 jagged 1
KDM6A lysine (K)-specific demethylase 6A
KMT2D lysine (K)-specific methyltransferase 2D
KYNU kynureninase
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
MBTPS2 membrane-bound transcription factor peptidase, site 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MNX1 motor neuron and pancreas homeobox 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
ORC1 origin recognition complex, subunit 1
POR P450 (cytochrome) oxidoreductase
PTCH1 patched 1
PTCH2 patched 2
PUF60 poly-U binding splicing factor 60KDa
RAP1A RAP1A, member of RAS oncogene family
RAP1B RAP1B, member of RAS oncogene family
RIPPLY2 ripply transcriptional repressor 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SH2B1 SH2B adaptor protein 1
SHH sonic hedgehog
SIX6 SIX homeobox 6
SON SON DNA binding protein
SOX2 SRY (sex determining region Y)-box 2
SUFU suppressor of fused homolog (Drosophila)
TBC1D24 TBC1 domain family, member 24
TBX2 T-box 2
TBX6 T-box 6
TMCO1 transmembrane and coiled-coil domains 1
WASHC5 WASH complex subunit 5
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A