Congenital Clubfoot Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0009081
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Genes

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

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ADGRG6 adhesion G protein-coupled receptor G6
AKR1C1 aldo-keto reductase family 1, member C1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG12 ALG12, alpha-1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
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
ARID1A AT rich interactive domain 1A (SWI-like)
ARSI arylsulfatase family, member I
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATAD1 ATPase family, AAA domain containing 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
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
BCL2 B-cell CLL/lymphoma 2
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BRPF1 bromodomain and PHD finger containing, 1
C12ORF57 chromosome 12 open reading frame 57
C12ORF65 chromosome 12 open reading frame 65
CAND2 cullin-associated and neddylation-dissociated 2 (putative)
CANT1 calcium activated nucleotidase 1
CASP10 caspase 10, apoptosis-related cysteine peptidase
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC47 coiled-coil domain containing 47
CDK13 cyclin-dependent kinase 13
CEP55 centrosomal protein 55kDa
CHMP1A charged multivesicular body protein 1A
CHN1 chimerin 1
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
CILP2 cartilage intermediate layer protein 2
COG1 component of oligomeric golgi complex 1
COG4 component of oligomeric golgi complex 4
COG8 component of oligomeric golgi complex 8
COL1A1 collagen, type I, alpha 1
COL25A1 collagen, type XXV, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL9A1 collagen, type IX, alpha 1
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COMT catechol-O-methyltransferase
CPLX1 complexin 1
CRIPT cysteine-rich PDZ-binding protein
CRLF1 cytokine receptor-like factor 1
CTBP1 C-terminal binding protein 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTH cystathionine gamma-lyase
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DCHS1 dachsous cadherin-related 1
DES desmin
DHCR7 7-dehydrocholesterol reductase
DONSON downstream neighbor of SON
DPYS dihydropyrimidinase
DSE dermatan sulfate epimerase
DST dystonin
EBP emopamil binding protein (sterol isomerase)
EED embryonic ectoderm development
EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
EIF4A3 eukaryotic translation initiation factor 4A3
ERCC5 excision repair cross-complementation group 5
ERGIC1 endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXOC6B exocyst complex component 6B
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FASN fatty acid synthase
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBXO7 F-box protein 7
FGD4 FYVE, RhoGEF and PH domain containing 4
FGFRL1 fibroblast growth factor receptor-like 1
FKBP10 FK506 binding protein 10, 65 kDa
FKBP8 FK506 binding protein 8, 38kDa
FLNA filamin A, alpha
FLNB filamin B, beta
FOXG1 forkhead box G1
FRAS1 Fraser extracellular matrix complex subunit 1
FUZ fuzzy planar cell polarity protein
GAN gigaxonin
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GDF5 growth differentiation factor 5
GH1 growth hormone 1
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPX4 glutathione peroxidase 4
GRIP1 glutamate receptor interacting protein 1
GSC goosecoid homeobox
GTPBP2 GTP binding protein 2
GUSB glucuronidase, beta
HACD1 3-hydroxyacyl-CoA dehydratase 1
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HIRA histone cell cycle regulator
HIST1H1E histone cluster 1, H1e
HOXA9 homeobox A9
HOXC11 homeobox C11
HOXC12 homeobox C12
HOXD10 homeobox D10
HOXD12 homeobox D12
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPB1 heat shock 27kDa protein 1
HSPG2 heparan sulfate proteoglycan 2
IFIH1 interferon induced with helicase C domain 1
IGHMBP2 immunoglobulin mu binding protein 2
IHH indian hedgehog
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF6 interferon regulatory factor 6
ITGA7 integrin, alpha 7
ITGA8 integrin, alpha 8
JMJD1C jumonji domain containing 1C
JPH1 junctophilin 1
KAT6B K(lysine) acetyltransferase 6B
KDM5C lysine (K)-specific demethylase 5C
KIAA1109 KIAA1109
KY kyphoscoliosis peptidase
KYNU kynureninase
L1CAM L1 cell adhesion molecule
LAMB2 laminin, beta 2 (laminin S)
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LGI4 leucine-rich repeat LGI family, member 4
LIFR leukemia inhibitory factor receptor alpha
LIMS2 LIM and senescent cell antigen-like domains 2
LMX1B LIM homeobox transcription factor 1, beta
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAP3K20 mitogen-activated protein kinase kinase kinase 20
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MCTP2 multiple C2 domains, transmembrane 2
MED13L mediator complex subunit 13-like
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MFSD2A major facilitator superfamily domain containing 2A
MSTN myostatin
MSX1 msh homeobox 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTMR2 myotubularin related protein 2
MUSK muscle, skeletal, receptor tyrosine kinase
MYBPC1 myosin binding protein C, slow type
MYH14 myosin, heavy chain 14, non-muscle
MYH2 myosin, heavy chain 2, skeletal muscle, adult
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYL2 myosin, light chain 2, regulatory, cardiac, slow
NACA2 nascent polypeptide-associated complex alpha subunit 2
NALCN sodium leak channel, non selective
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NCOR2 nuclear receptor corepressor 2
NDE1 nudE neurodevelopment protein 1
NECTIN1 nectin cell adhesion molecule 1
NEK8 NIMA-related kinase 8
NEK9 NIMA-related kinase 9
NELFA negative elongation factor complex member A
NOTCH2 notch 2
NSD1 nuclear receptor binding SET domain protein 1
NSD2 nuclear receptor binding SET domain protein 2
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
ORC6 origin recognition complex, subunit 6
OTUD6B OTU domain containing 6B
PEX1 peroxisomal biogenesis factor 1
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX5 peroxisomal biogenesis factor 5
PI4KA phosphatidylinositol 4-kinase, catalytic, alpha
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
PLXND1 plexin D1
POMT1 protein-O-mannosyltransferase 1
PRL prolactin
PRUNE1 prune exopolyphosphatase 1
PTRH2 peptidyl-tRNA hydrolase 2
RAB11B RAB11B, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RFLNA refilin A
RREB1 ras responsive element binding protein 1
RUSC2 RUN and SH3 domain containing 2
RYR1 ryanodine receptor 1 (skeletal)
SAMD9 sterile alpha motif domain containing 9
SATB2 SATB homeobox 2
SBF2 SET binding factor 2
SCARF2 scavenger receptor class F, member 2
SCYL1 SCY1-like 1 (S. cerevisiae)
SEC24C SEC24 family member C
SELENON selenoprotein N
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH3PXD2B SH3 and PX domains 2B
SHROOM4 shroom family member 4
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMOC1 SPARC related modular calcium binding 1
SMS spermine synthase
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNX14 sorting nexin 14
SOX9 SRY (sex determining region Y)-box 9
SPEG SPEG complex locus
STAC3 SH3 and cysteine rich domain 3
SUZ12 SUZ12 polycomb repressive complex 2 subunit
SYNE1 spectrin repeat containing, nuclear envelope 1
TAZ tafazzin
TBC1D23 TBC1 domain family, member 23
TBC1D24 TBC1 domain family, member 24
TBX1 T-box 1
TBX15 T-box 15
TBX4 T-box 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN2 tectonic family member 2
TGDS TDP-glucose 4,6-dehydratase
TGFBI transforming growth factor, beta-induced, 68kDa
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TH tyrosine hydroxylase
TMEM8C transmembrane protein 8C
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TP63 tumor protein p63
TPM1 tropomyosin 1 (alpha)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAIP TRAF interacting protein
TRIM2 tripartite motif containing 2
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
UFD1 ubiquitin recognition factor in ER associated degradation 1
USP8 ubiquitin specific peptidase 8
VANGL1 VANGL planar cell polarity protein 1
WDR73 WD repeat domain 73
WNT7A wingless-type MMTV integration site family, member 7A
ZC4H2 zinc finger, C4H2 domain containing
ZFYVE27 zinc finger, FYVE domain containing 27
ZNF148 zinc finger protein 148
ZNF664 zinc finger protein 664
ZSWIM6 zinc finger, SWIM-type containing 6