Ectrodactyly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. (Human Phenotype Ontology, HP_0100257)
External Link https://www.disgenet.org/browser/0/1/0/C1851841
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Genes

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

Symbol Name
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALB albumin
ALCAM activated leukocyte cell adhesion molecule
ANOS1 anosmin 1
APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2
APC adenomatous polyposis coli
ARID1A AT rich interactive domain 1A (SWI-like)
ASRGL1 asparaginase like 1
ATG10 autophagy related 10
AURKA aurora kinase A
BCL2 B-cell CLL/lymphoma 2
BHLHA9 basic helix-loop-helix family, member a9
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCND1 cyclin D1
CCR1 chemokine (C-C motif) receptor 1
CD200R1 CD200 receptor 1
CD68 CD68 molecule
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CHUK conserved helix-loop-helix ubiquitous kinase
CKAP4 cytoskeleton-associated protein 4
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CTCF CCCTC-binding factor (zinc finger protein)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL13 chemokine (C-X-C motif) ligand 13
DEPDC1 DEP domain containing 1
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
EGFR epidermal growth factor receptor
EIF4A1 eukaryotic translation initiation factor 4A1
EMD emerin
ENO1 enolase 1, (alpha)
EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ESR1 estrogen receptor 1
ESRRG estrogen-related receptor gamma
ETV5 ets variant 5
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FOXA2 forkhead box A2
FOXC1 forkhead box C1
FOXO1 forkhead box O1
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GCA grancalcin, EF-hand calcium binding protein
GDE1 glycerophosphodiester phosphodiesterase 1
GLI2 GLI family zinc finger 2
GRAP2 GRB2-related adaptor protein 2
HAND2 heart and neural crest derivatives expressed 2
HCRT hypocretin (orexin) neuropeptide precursor
HCRTR2 hypocretin (orexin) receptor 2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMGA1 high mobility group AT-hook 1
HMGA2 high mobility group AT-hook 2
IGF2 insulin-like growth factor 2
IL6 interleukin 6
INHBB inhibin, beta B
INSIG2 insulin induced gene 2
JAG2 jagged 2
JAZF1 JAZF zinc finger 1
JPH4 junctophilin 4
JPT1 Jupiter microtubule associated homolog 1
KDM1A lysine (K)-specific demethylase 1A
KDR kinase insert domain receptor
KRAS Kirsten rat sarcoma viral oncogene homolog
LCT lactase
LTF lactotransferrin
MAP3K20 mitogen-activated protein kinase kinase kinase 20
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MID1 midline 1
MMP11 matrix metallopeptidase 11
MRC1 mannose receptor, C type 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYC v-myc avian myelocytomatosis viral oncogene homolog
NFE2L2 nuclear factor, erythroid 2-like 2
NME1 NME/NM23 nucleoside diphosphate kinase 1
NMU neuromedin U
NR4A1 nuclear receptor subfamily 4, group A, member 1
PAX2 paired box 2
PCDH10 protocadherin 10
PCNA proliferating cell nuclear antigen
PDCD4 programmed cell death 4 (neoplastic transformation inhibitor)
PGR progesterone receptor
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PLAA phospholipase A2-activating protein
PLAU plasminogen activator, urokinase
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POLE polymerase (DNA directed), epsilon, catalytic subunit
PRDX6 peroxiredoxin 6
PROM1 prominin 1
PTEN phosphatase and tensin homolog
PTGER4 prostaglandin E receptor 4 (subtype EP4)
QTRT1 queuine tRNA-ribosyltransferase 1
RANGAP1 Ran GTPase activating protein 1
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RPE65 retinal pigment epithelium-specific protein 65kDa
RUNX1 runt-related transcription factor 1
S100A6 S100 calcium binding protein A6
SCGB2A1 secretoglobin, family 2A, member 1
SESN2 sestrin 2
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SLC12A9 solute carrier family 12, member 9
SNX3 sorting nexin 3
SPP1 secreted phosphoprotein 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK11 serine/threonine kinase 11
TACSTD2 tumor-associated calcium signal transducer 2
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TET1 tet methylcytosine dioxygenase 1
TP53 tumor protein p53
TP63 tumor protein p63
UGT8 UDP glycosyltransferase 8
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
UVRAG UV radiation resistance associated
VEGFB vascular endothelial growth factor B
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae)
WISP1 WNT1 inducible signaling pathway protein 1
WNT10B wingless-type MMTV integration site family, member 10B
WNT7A wingless-type MMTV integration site family, member 7A
ZFHX3 zinc finger homeobox 3