acrocephalosyndactylia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A synostosis that results_in craniosynostosis and syndactyly. (Human Disease Ontology, DOID_12960)
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Genes

119 genes co-occuring with the disease acrocephalosyndactylia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
FGFR2 fibroblast growth factor receptor 2 3.11724
GLI3 GLI family zinc finger 3 2.38764
TWIST1 twist family bHLH transcription factor 1 2.2915
FGFR3 fibroblast growth factor receptor 3 1.99549
FGFR1 fibroblast growth factor receptor 1 1.95159
ARID1B AT rich interactive domain 1B (SWI1-like) 1.4935
FGF10 fibroblast growth factor 10 1.42674
SNX13 sorting nexin 13 1.41227
FERD3L Fer3-like bHLH transcription factor 1.30401
MSX2 msh homeobox 2 1.28435
TWISTNB TWIST neighbor 1.13882
HEMK1 HemK methyltransferase family member 1 1.1009
KIF7 kinesin family member 7 1.04462
FGF1 fibroblast growth factor 1 (acidic) 1.01005
CKAP5 cytoskeleton associated protein 5 0.996549
FGF7 fibroblast growth factor 7 0.9238
RAB23 RAB23, member RAS oncogene family 0.882292
HOXA4 homeobox A4 0.881882
RUNX2 runt-related transcription factor 2 0.869187
KLF10 Kruppel-like factor 10 0.853631
MECOM MDS1 and EVI1 complex locus 0.821667
HAND2 heart and neural crest derivatives expressed 2 0.802385
ALX4 ALX homeobox 4 0.785574
TCF12 transcription factor 12 0.764718
C3ORF18 chromosome 3 open reading frame 18 0.762678
MAPKAPK3 mitogen-activated protein kinase-activated protein kinase 3 0.756971
HIP1 huntingtin interacting protein 1 0.755342
SHH sonic hedgehog 0.741923
TCF3 transcription factor 3 0.72329
PGAM2 phosphoglycerate mutase 2 (muscle) 0.708364
SRA1 steroid receptor RNA activator 1 0.686291
PRPS1L1 phosphoribosyl pyrophosphate synthetase 1-like 1 0.682693
KIF27 kinesin family member 27 0.677504
ESRP1 epithelial splicing regulatory protein 1 0.660008
FGF9 fibroblast growth factor 9 0.637889
STRCP1 stereocilin pseudogene 1 0.635921
STRC stereocilin 0.635921
DOCK3 dedicator of cytokinesis 3 0.612401
EFNB1 ephrin-B1 0.60342
TBX4 T-box 4 0.597571
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 0.590558
PTCH1 patched 1 0.575383
HMX2 H6 family homeobox 2 0.569941
SLC30A2 solute carrier family 30 (zinc transporter), member 2 0.527676
FGF6 fibroblast growth factor 6 0.523045
NDE1 nudE neurodevelopment protein 1 0.504207
PTPRO protein tyrosine phosphatase, receptor type, O 0.503441
NCOA1 nuclear receptor coactivator 1 0.489311
CDON cell adhesion associated, oncogene regulated 0.469197
CKM creatine kinase, muscle 0.468063
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) 0.462394
PLS3 plastin 3 0.460506
FGFR4 fibroblast growth factor receptor 4 0.460506
BHLHE41 basic helix-loop-helix family, member e41 0.458619
RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2 0.450701
INHBA inhibin, beta A 0.446558
FGF4 fibroblast growth factor 4 0.440538
BHLHE40 basic helix-loop-helix family, member e40 0.43753
IHH indian hedgehog 0.436778
CCM2 cerebral cavernous malformation 2 0.42289
OCM2 oncomodulin 2 0.410535
PHF12 PHD finger protein 12 0.408666
PTCH2 patched 2 0.397098
HOPX HOP homeobox 0.393746
OCM oncomodulin 0.392629
GAS1 growth arrest-specific 1 0.388909
ABHD14A abhydrolase domain containing 14A 0.382966
FGF2 fibroblast growth factor 2 (basic) 0.360395
WNT11 wingless-type MMTV integration site family, member 11 0.336876
HSH2D hematopoietic SH2 domain containing 0.331391
SUFU suppressor of fused homolog (Drosophila) 0.328469
VPREB1 pre-B lymphocyte 1 0.326281
THEM4 thioesterase superfamily member 4 0.316456
COL2A1 collagen, type II, alpha 1 0.308842
FRS2 fibroblast growth factor receptor substrate 2 0.307757
MAGEA4 melanoma antigen family A4 0.290821
GRB2 growth factor receptor-bound protein 2 0.25877
FLNB filamin B, beta 0.257005
TBX5 T-box 5 0.251718
TARP TCR gamma alternate reading frame protein 0.249257
PTER phosphotriesterase related 0.244345
BMP4 bone morphogenetic protein 4 0.237706
MNX1 motor neuron and pancreas homeobox 1 0.221108
MEGF6 multiple EGF-like-domains 6 0.213621
GET4 golgi to ER traffic protein 4 homolog (S. cerevisiae) 0.210253
CEBPD CCAAT/enhancer binding protein (C/EBP), delta 0.207912
OCA2 oculocutaneous albinism II 0.20229
MARK3 MAP/microtubule affinity-regulating kinase 3 0.192031
SNRPN small nuclear ribonucleoprotein polypeptide N 0.190476
GCK glucokinase (hexokinase 4) 0.170299
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 0.161912
MSX1 msh homeobox 1 0.145563
BMP6 bone morphogenetic protein 6 0.141043
LRP2 low density lipoprotein receptor-related protein 2 0.139002
CASP2 caspase 2, apoptosis-related cysteine peptidase 0.138958
FGF8 fibroblast growth factor 8 (androgen-induced) 0.138949
EP300 E1A binding protein p300 0.138923
IBSP integrin-binding sialoprotein 0.138614
ZEB2 zinc finger E-box binding homeobox 2 0.13813
SMO smoothened, frizzled class receptor 0.1378
MTM1 myotubularin 1 0.137704
CISH cytokine inducible SH2-containing protein 0.137476
GNA15 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 0.137296
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 0.136365
ILK integrin-linked kinase 0.135722
ANXA1 annexin A1 0.13551
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 0.135495
CREBBP CREB binding protein 0.135481
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein 0.135262
PVALB parvalbumin 0.135262
AKT2 v-akt murine thymoma viral oncogene homolog 2 0.13449
PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 0.134343
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 0.132844
CTSK cathepsin K 0.131974
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 0.130952
C6ORF25 chromosome 6 open reading frame 25 0.130621
IGFBP1 insulin-like growth factor binding protein 1 0.130475
TBX1 T-box 1 0.129952
KRT18 keratin 18, type I 0.128715