kyphosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Exaggerated anterior convexity of the thoracic vertebral column. (Human Phenotype Ontology, HP_0002808)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000160
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Genes

146 gene mutations causing the kyphosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ACP2 acid phosphatase 2, lysosomal
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
ARHGAP1 Rho GTPase activating protein 1
ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5
ATR ATR serine/threonine kinase
ATXN1 ataxin 1
ATXN1L ataxin 1-like
ATXN7 ataxin 7
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CCR10 chemokine (C-C motif) receptor 10
CDC14B cell division cycle 14B
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDO1 cysteine dioxygenase type 1
CHAT choline O-acetyltransferase
CHD2 chromodomain helicase DNA binding protein 2
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CISD2 CDGSH iron sulfur domain 2
CLCN1 chloride channel, voltage-sensitive 1
CLCN3 chloride channel, voltage-sensitive 3
CLCN5 chloride channel, voltage-sensitive 5
CLEC3B C-type lectin domain family 3, member B
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
CNTNAP1 contactin associated protein 1
COL10A1 collagen, type X, alpha 1
COL12A1 collagen, type XII, alpha 1
COL1A2 collagen, type I, alpha 2
COL5A2 collagen, type V, alpha 2
DLL3 delta-like 3 (Drosophila)
DSCAM Down syndrome cell adhesion molecule
DUSP3 dual specificity phosphatase 3
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
EWSR1 EWS RNA-binding protein 1
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBXO45 F-box protein 45
FGF18 fibroblast growth factor 18
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
FSHR follicle stimulating hormone receptor
FTO fat mass and obesity associated
GAA glucosidase, alpha; acid
GRHL3 grainyhead-like 3 (Drosophila)
GTF2IRD1 GTF2I repeat domain containing 1
HELLS helicase, lymphoid-specific
HIP1 huntingtin interacting protein 1
HOXC9 homeobox C9
HYDIN HYDIN, axonemal central pair apparatus protein
IDUA iduronidase, alpha-L-
IFT38 intraflagellar transport 38
INS insulin
IRAK3 interleukin-1 receptor-associated kinase 3
IREB2 iron-responsive element binding protein 2
ITGA7 integrin, alpha 7
KDM4B lysine (K)-specific demethylase 4B
KL klotho
KY kyphoscoliosis peptidase
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LMNA lamin A/C
LTBP3 latent transforming growth factor beta binding protein 3
MAPK6 mitogen-activated protein kinase 6
MECOM MDS1 and EVI1 complex locus
MECP2 methyl CpG binding protein 2
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MTF2 metal response element binding transcription factor 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYH1 myosin, heavy chain 1, skeletal muscle, adult
MYOG myogenin (myogenic factor 4)
MYSM1 Myb-like, SWIRM and MPN domains 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEB nebulin
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NOG noggin
NOTCH3 notch 3
NPR3 natriuretic peptide receptor 3
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARL presenilin associated, rhomboid-like
PAX1 paired box 1
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLP1 proteolipid protein 1
POLG polymerase (DNA directed), gamma
PPIB peptidylprolyl isomerase B (cyclophilin B)
PSAP prosaposin
PTCH1 patched 1
PTHLH parathyroid hormone-like hormone
QRFPR pyroglutamylated RFamide peptide receptor
RAI1 retinoic acid induced 1
RB1 retinoblastoma 1
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
SAMD4A sterile alpha motif domain containing 4A
SEPN1 selenoprotein N, 1
SETD1A SET domain containing 1A
SFN stratifin
SH3PXD2B SH3 and PX domains 2B
SIRT6 sirtuin 6
SIRT7 sirtuin 7
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC30A5 solute carrier family 30 (zinc transporter), member 5
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD3 SMAD family member 3
SQSTM1 sequestosome 1
STAG1 stromal antigen 1
SUMF1 sulfatase modifying factor 1
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
TBX1 T-box 1
TERC telomerase RNA component
TGFB1 transforming growth factor, beta 1
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THBS1 thrombospondin 1
THBS2 thrombospondin 2
TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast)
TMEM8C transmembrane protein 8C
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOM1L2 target of myb1-like 2 (chicken)
TOP2B topoisomerase (DNA) II beta 180kDa
TP53 tumor protein p53
TP63 tumor protein p63
TRAFD1 TRAF-type zinc finger domain containing 1
TTN titin
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNCX UNC homeobox
VCP valosin containing protein
WNT3A wingless-type MMTV integration site family, member 3A
ZDHHC13 zinc finger, DHHC-type containing 13
ZIC1 Zic family member 1
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24