Tarsal-Carpal Coalition Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. (Human Disease Ontology, DOID_0050789)
External Link https://www.disgenet.org/browser/0/1/0/C1861305
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Genes

242 genes associated with the disease Tarsal-Carpal Coalition Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
AGER advanced glycosylation end product-specific receptor
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALOX5 arachidonate 5-lipoxygenase
ANGPT1 angiopoietin 1
ANGPT2 angiopoietin 2
ANXA1 annexin A1
APAF1 apoptotic peptidase activating factor 1
AR androgen receptor
ARID1A AT rich interactive domain 1A (SWI-like)
ASS1 argininosuccinate synthase 1
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BLCAP bladder cancer associated protein
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRINP1 bone morphogenetic protein/retinoic acid inducible neural-specific 1
BSG basigin (Ok blood group)
C17ORF97 chromosome 17 open reading frame 97
CA2 carbonic anhydrase II
CABIN1 calcineurin binding protein 1
CAGE1 cancer antigen 1
CAPG capping protein (actin filament), gelsolin-like
CAV1 caveolin 1, caveolae protein, 22kDa
CBX7 chromobox homolog 7
CCL2 chemokine (C-C motif) ligand 2
CCL28 chemokine (C-C motif) ligand 28
CCND1 cyclin D1
CCR2 chemokine (C-C motif) receptor 2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD200 CD200 molecule
CD200R1 CD200 receptor 1
CD44 CD44 molecule (Indian blood group)
CD80 CD80 molecule
CD82 CD82 molecule
CD86 CD86 molecule
CD99 CD99 molecule
CDH13 cadherin 13
CDK1 cyclin-dependent kinase 1
CDK2 cyclin-dependent kinase 2
CDK4 cyclin-dependent kinase 4
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CEP55 centrosomal protein 55kDa
CHD6 chromodomain helicase DNA binding protein 6
CIB2 calcium and integrin binding family member 2
CIP2A cellular inhibitor of PP2A
CISH cytokine inducible SH2-containing protein
CKAP4 cytoskeleton-associated protein 4
COX2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTAG1A cancer/testis antigen 1A
CTAG1B cancer/testis antigen 1B
CTAGE1 cutaneous T-cell lymphoma-associated antigen 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL11 chemokine (C-X-C motif) ligand 11
CXCL8 chemokine (C-X-C motif) ligand 8
CYB5R3 cytochrome b5 reductase 3
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
DAPK1 death-associated protein kinase 1
DCC DCC netrin 1 receptor
DGCR8 DGCR8 microprocessor complex subunit
DICER1 dicer 1, ribonuclease type III
DLGAP5 discs, large (Drosophila) homolog-associated protein 5
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOC2A double C2-like domains, alpha
E2F1 E2F transcription factor 1
E2F3 E2F transcription factor 3
EGFR epidermal growth factor receptor
ELAVL3 ELAV like neuron-specific RNA binding protein 3
ELK1 ELK1, member of ETS oncogene family
EPHB2 EPH receptor B2
EPHB4 EPH receptor B4
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB4 erb-b2 receptor tyrosine kinase 4
ESR1 estrogen receptor 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FEZ1 fasciculation and elongation protein zeta 1 (zygin I)
FGF2 fibroblast growth factor 2 (basic)
FGFR3 fibroblast growth factor receptor 3
FHIT fragile histidine triad
FLOT1 flotillin 1
FLT1 fms-related tyrosine kinase 1
FN1 fibronectin 1
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GATA6 GATA binding protein 6
GLB1 galactosidase, beta 1
GLI1 GLI family zinc finger 1
GLS glutaminase
GNAS GNAS complex locus
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GRAP2 GRB2-related adaptor protein 2
GSTA1 glutathione S-transferase alpha 1
GSTM1 glutathione S-transferase mu 1
GSTO1 glutathione S-transferase omega 1
GSTO2 glutathione S-transferase omega 2
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HCRTR2 hypocretin (orexin) receptor 2
HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1
HLA-A major histocompatibility complex, class I, A
HOXA13 homeobox A13
HPGDS hematopoietic prostaglandin D synthase
HRAS Harvey rat sarcoma viral oncogene homolog
IFNG interferon, gamma
IFT122 intraflagellar transport 122
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGFBP3 insulin-like growth factor binding protein 3
IGFBP7 insulin-like growth factor binding protein 7
IL1B interleukin 1, beta
IL2RA interleukin 2 receptor, alpha
IL4 interleukin 4
IL6 interleukin 6
ISG20 interferon stimulated exonuclease gene 20kDa
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KCNH4 potassium channel, voltage gated eag related subfamily H, member 4
KCNH8 potassium channel, voltage gated eag related subfamily H, member 8
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KRT20 keratin 20, type I
KRT8 keratin 8, type II
LASP1 LIM and SH3 protein 1
LCN1 lipocalin 1
LIN28A lin-28 homolog A (C. elegans)
LZTS1 leucine zipper, putative tumor suppressor 1
MAGEB4 melanoma antigen family B4
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MARCKSL1 MARCKS-like 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MGMT O-6-methylguanine-DNA methyltransferase
MKI67 marker of proliferation Ki-67
MLH1 mutL homolog 1
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MOK MOK protein kinase
MRC1 mannose receptor, C type 1
MRPL28 mitochondrial ribosomal protein L28
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MUC1 mucin 1, cell surface associated
MZF1 myeloid zinc finger 1
NEDD9 neural precursor cell expressed, developmentally down-regulated 9
NEU1 sialidase 1 (lysosomal sialidase)
NEURL1 neuralized E3 ubiquitin protein ligase 1
NF1 neurofibromin 1
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOG noggin
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NR2F1 nuclear receptor subfamily 2, group F, member 1
NT5C2 5'-nucleotidase, cytosolic II
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NXT1 nuclear transport factor 2-like export factor 1
ODF4 outer dense fiber of sperm tails 4
PAX5 paired box 5
PAX8 paired box 8
PCDH10 protocadherin 10
PCNA proliferating cell nuclear antigen
PEBP1 phosphatidylethanolamine binding protein 1
PLAU plasminogen activator, urokinase
PLAUR plasminogen activator, urokinase receptor
PLK2 polo-like kinase 2
PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POSTN periostin, osteoblast specific factor
POU5F1 POU class 5 homeobox 1
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A
PRAP1 proline-rich acidic protein 1
PRKCA protein kinase C, alpha
PRLHR prolactin releasing hormone receptor
PRSS8 protease, serine, 8
PRTN3 proteinase 3
PSCA prostate stem cell antigen
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1 retinoblastoma 1
REEP5 receptor accessory protein 5
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RPE65 retinal pigment epithelium-specific protein 65kDa
S100A12 S100 calcium binding protein A12
S100A4 S100 calcium binding protein A4
SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
SFXN1 sideroflexin 1
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC12A9 solute carrier family 12, member 9
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SNAP25 synaptosomal-associated protein, 25kDa
SPAG9 sperm associated antigen 9
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
STMN1 stathmin 1
SUB1 SUB1 homolog (S. cerevisiae)
SYK spleen tyrosine kinase
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
TGFBR1 transforming growth factor, beta receptor 1
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TM7SF2 transmembrane 7 superfamily member 2
TMOD4 tropomodulin 4 (muscle)
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
TP53 tumor protein p53
TP63 tumor protein p63
TRAP triiodothyronine receptor auxiliary protein
TSC1 tuberous sclerosis 1
TYK2 tyrosine kinase 2
UBIAD1 UbiA prenyltransferase domain containing 1
UHRF1 ubiquitin-like with PHD and ring finger domains 1
UPK1B uroplakin 1B
UPK2 uroplakin 2
UPK3A uroplakin 3A
UPP2 uridine phosphorylase 2
UVRAG UV radiation resistance associated
VEGFA vascular endothelial growth factor A
VIM vimentin
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
WLS wntless Wnt ligand secretion mediator
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
ZBTB7A zinc finger and BTB domain containing 7A
ZFYVE26 zinc finger, FYVE domain containing 26
ZHX2 zinc fingers and homeoboxes 2
ZNF165 zinc finger protein 165