talipes equinovarus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001762
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Genes

129 genes associated with the talipes equinovarus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG3 ALG3, alpha-1,3- mannosyltransferase
AMER1 APC membrane recruitment protein 1
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
ARHGAP31 Rho GTPase activating protein 31
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B9D1 B9 protein domain 1
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
C12ORF57 chromosome 12 open reading frame 57
C12ORF65 chromosome 12 open reading frame 65
CANT1 calcium activated nucleotidase 1
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CHMP1A charged multivesicular body protein 1A
CHRM3 cholinergic receptor, muscarinic 3
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COG1 component of oligomeric golgi complex 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CRLF1 cytokine receptor-like factor 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DCHS1 dachsous cadherin-related 1
DES desmin
DHCR24 24-dehydrocholesterol reductase
DOK7 docking protein 7
DPYS dihydropyrimidinase
DSE dermatan sulfate epimerase
DST dystonin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
ECEL1 endothelin converting enzyme-like 1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF4A3 eukaryotic translation initiation factor 4A3
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAT4 FAT atypical cadherin 4
FBN2 fibrillin 2
FBXO7 F-box protein 7
FGD4 FYVE, RhoGEF and PH domain containing 4
FKBP14 FK506 binding protein 14, 22 kDa
FKTN fukutin
FLNA filamin A, alpha
FLNB filamin B, beta
FOXG1 forkhead box G1
GAN gigaxonin
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GDF5 growth differentiation factor 5
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
GSC goosecoid homeobox
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
IGHMBP2 immunoglobulin mu binding protein 2
IRF6 interferon regulatory factor 6
ITGA8 integrin, alpha 8
KAT6B K(lysine) acetyltransferase 6B
KDM5C lysine (K)-specific demethylase 5C
L1CAM L1 cell adhesion molecule
LMX1B LIM homeobox transcription factor 1, beta
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MTMR2 myotubularin related protein 2
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NDE1 nudE neurodevelopment protein 1
NDRG1 N-myc downstream regulated 1
NEK8 NIMA-related kinase 8
NT5C2 5'-nucleotidase, cytosolic II
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
PAX2 paired box 2
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PIEZO2 piezo-type mechanosensitive ion channel component 2
PITX1 paired-like homeodomain 1
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAPSN receptor-associated protein of the synapse
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
SATB2 SATB homeobox 2
SBF2 SET binding factor 2
SC5D sterol-C5-desaturase
SCARF2 scavenger receptor class F, member 2
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SKI SKI proto-oncogene
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SMOC1 SPARC related modular calcium binding 1
SMS spermine synthase
SOX9 SRY (sex determining region Y)-box 9
TAZ tafazzin
TBX15 T-box 15
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMCO1 transmembrane and coiled-coil domains 1
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WNT7A wingless-type MMTV integration site family, member 7A
ZC4H2 zinc finger, C4H2 domain containing
ZFYVE27 zinc finger, FYVE domain containing 27
ZSWIM6 zinc finger, SWIM-type containing 6