craniosynostosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A synostosis that results_in premature fusion located_in skull. (Human Disease Ontology, DOID_2340)
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Genes

180 genes co-occuring with the disease craniosynostosis 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 3.19622
FGFR3 fibroblast growth factor receptor 3 2.53363
MSX2 msh homeobox 2 2.38351
FGFR1 fibroblast growth factor receptor 1 2.19031
TWIST1 twist family bHLH transcription factor 1 2.15665
NELL1 NEL-like 1 (chicken) 1.90614
EFNB1 ephrin-B1 1.83228
ARID1B AT rich interactive domain 1B (SWI1-like) 1.75369
RUNX2 runt-related transcription factor 2 1.72365
RAB23 RAB23, member RAS oncogene family 1.57957
FGF1 fibroblast growth factor 1 (acidic) 1.52644
ALX4 ALX homeobox 4 1.32279
IL11RA interleukin 11 receptor, alpha 1.27999
FGF10 fibroblast growth factor 10 1.26821
IHH indian hedgehog 1.26211
TGFB3 transforming growth factor, beta 3 1.21565
RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2 1.19532
NOG noggin 1.1798
FGFR4 fibroblast growth factor receptor 4 1.16521
C1QTNF3 C1q and tumor necrosis factor related protein 3 1.13839
BMP2 bone morphogenetic protein 2 1.11393
POR P450 (cytochrome) oxidoreductase 1.08621
NCOA1 nuclear receptor coactivator 1 1.0585
DLX5 distal-less homeobox 5 1.05639
RECQL4 RecQ protein-like 4 1.04966
MSX1 msh homeobox 1 1.04546
PJA1 praja ring finger 1, E3 ubiquitin protein ligase 1.04209
BMP4 bone morphogenetic protein 4 1.03282
TULP4 tubby like protein 4 1.01132
GLI3 GLI family zinc finger 3 0.987271
FGF9 fibroblast growth factor 9 0.959123
PTER phosphotriesterase related 0.959123
FGF2 fibroblast growth factor 2 (basic) 0.949519
FGF4 fibroblast growth factor 4 0.944521
FUZ fuzzy planar cell polarity protein 0.938704
ALPL alkaline phosphatase, liver/bone/kidney 0.931242
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 0.911845
TINAGL1 tubulointerstitial nephritis antigen-like 1 0.908965
FGFRL1 fibroblast growth factor receptor-like 1 0.907731
EFNA4 ephrin-A4 0.891308
ALPPL2 alkaline phosphatase, placental-like 2 0.882701
ALPP alkaline phosphatase, placental 0.882292
WDR35 WD repeat domain 35 0.879014
MEGF8 multiple EGF-like-domains 8 0.868368
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 0.857315
BMP3 bone morphogenetic protein 3 0.84585
FBN1 fibrillin 1 0.836017
AXIN2 axin 2 0.816334
FGF7 fibroblast growth factor 7 0.800744
TGFB2 transforming growth factor, beta 2 0.799103
TGFBR1 transforming growth factor, beta receptor 1 0.754934
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 0.745985
BGLAP bone gamma-carboxyglutamate (gla) protein 0.745578
BARX2 BARX homeobox 2 0.735838
COLEC11 collectin sub-family member 11 0.707559
TGFB1 transforming growth factor, beta 1 0.70233
FRS2 fibroblast growth factor receptor substrate 2 0.697911
MMP23B matrix metallopeptidase 23B 0.682294
SP7 Sp7 transcription factor 0.681096
GDF7 growth differentiation factor 7 0.676706
SHH sonic hedgehog 0.671925
ASXL3 additional sex combs like transcriptional regulator 3 0.670333
MNX1 motor neuron and pancreas homeobox 1 0.66914
FGF8 fibroblast growth factor 8 (androgen-induced) 0.662387
RLIM ring finger protein, LIM domain interacting 0.660404
FGF3 fibroblast growth factor 3 0.658422
NUDT6 nudix (nucleoside diphosphate linked moiety X)-type motif 6 0.652484
IBSP integrin-binding sialoprotein 0.648928
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila) 0.62728
CER1 cerberus 1, DAN family BMP antagonist 0.620226
PCYT1B phosphate cytidylyltransferase 1, choline, beta 0.617877
WIPF1 WAS/WASL interacting protein family, member 1 0.615138
TWIST2 twist family bHLH transcription factor 2 0.609666
TCF12 transcription factor 12 0.60303
FGF18 fibroblast growth factor 18 0.596012
IGF1R insulin-like growth factor 1 receptor 0.584719
GPC3 glypican 3 0.582384
PTCH1 patched 1 0.578883
ADAMTSL4 ADAMTS-like 4 0.574217
ALX3 ALX homeobox 3 0.563335
ALX1 ALX homeobox 1 0.552851
MIR4315-1 microRNA 4315-1 0.551686
MIR4315-2 microRNA 4315-2 0.551686
WIF1 WNT inhibitory factor 1 0.546256
SPP1 secreted phosphoprotein 1 0.518805
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 0.513802
STARD8 StAR-related lipid transfer (START) domain containing 8 0.504973
PART1 prostate androgen-regulated transcript 1 (non-protein coding) 0.503058
VPREB1 pre-B lymphocyte 1 0.499231
FNDC3B fibronectin type III domain containing 3B 0.493503
COL2A1 collagen, type II, alpha 1 0.489311
OGN osteoglycin 0.487407
BMP7 bone morphogenetic protein 7 0.475255
PYGO2 pygopus family PHD finger 2 0.466928
KIF7 kinesin family member 7 0.460129
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 0.458996
CASS4 Cas scaffolding protein family member 4 0.457487
PHEX phosphate regulating endopeptidase homolog, X-linked 0.457487
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 0.452208
PRRX1 paired related homeobox 1 0.449194
RARRES1 retinoic acid receptor responder (tazarotene induced) 1 0.446558
SOX9 SRY (sex determining region Y)-box 9 0.445805
STRC stereocilin 0.445052
STRCP1 stereocilin pseudogene 1 0.445052
FREM1 FRAS1 related extracellular matrix 1 0.444676
EFNA2 ephrin-A2 0.437154
ESRP1 epithelial splicing regulatory protein 1 0.434148
SPTA1 spectrin, alpha, erythrocytic 1 0.431144
SH3PXD2B SH3 and PX domains 2B 0.428516
BBS9 Bardet-Biedl syndrome 9 0.424014
CTSK cathepsin K 0.423265
PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa 0.421765
AKAP5 A kinase (PRKA) anchor protein 5 0.403811
BGN biglycan 0.400453
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 0.393001
DEFA1B defensin, alpha 1B 0.391885
DEFA1 defensin, alpha 1 0.391885
HMX2 H6 family homeobox 2 0.381852
PTPRO protein tyrosine phosphatase, receptor type, O 0.351555
USB1 U6 snRNA biogenesis 1 0.343473
JAG1 jagged 1 0.33944
FGF6 fibroblast growth factor 6 0.337242
IRF6 interferon regulatory factor 6 0.333218
IGF2BP3 insulin-like growth factor 2 mRNA binding protein 3 0.324823
DLX4 distal-less homeobox 4 0.321909
CDON cell adhesion associated, oncogene regulated 0.318272
CNTN4 contactin 4 0.31464
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 0.313189
DCN decorin 0.312102
STRA6 stimulated by retinoic acid 6 0.301254
EP300 E1A binding protein p300 0.299092
TSHR thyroid stimulating hormone receptor 0.297291
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 0.291898
GRB2 growth factor receptor-bound protein 2 0.281868
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) 0.279724
SHOC2 soc-2 suppressor of clear homolog (C. elegans) 0.27794
PLS3 plastin 3 0.27794
KIF3A kinesin family member 3A 0.277227
SOX6 SRY (sex determining region Y)-box 6 0.274376
AMBN ameloblastin (enamel matrix protein) 0.272597
ADO 2-aminoethanethiol (cysteamine) dioxygenase 0.269043
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 0.25983
WWTR1 WW domain containing transcription regulator 1 0.257711
TP63 tumor protein p63 0.252422
GDF6 growth differentiation factor 6 0.250311
LAX1 lymphocyte transmembrane adaptor 1 0.24996
KARS lysyl-tRNA synthetase 0.24996
LHX3 LIM homeobox 3 0.237706
CYFIP2 cytoplasmic FMR1 interacting protein 2 0.234573
GPC1 glypican 1 0.231795
OFD1 oral-facial-digital syndrome 1 0.22454
MCM5 minichromosome maintenance complex component 5 0.222822
ZFX zinc finger protein, X-linked 0.22145
HOPX HOP homeobox 0.215653
CKAP5 cytoskeleton associated protein 5 0.204593
TCOF1 Treacher Collins-Franceschetti syndrome 1 0.202618
SATB2 SATB homeobox 2 0.194232
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 0.1936
RHOA ras homolog family member A 0.192031
ANKH ANKH inorganic pyrophosphate transport regulator 0.188632
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 0.188326
KLF10 Kruppel-like factor 10 0.187719
RBP4 retinol binding protein 4, plasma 0.182666
TCF3 transcription factor 3 0.181798
ANXA3 annexin A3 0.175947
MECOM MDS1 and EVI1 complex locus 0.166768
EPHB3 EPH receptor B3 0.166095
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 0.165874
PAX9 paired box 9 0.161912
SMAD2 SMAD family member 2 0.160021
ACVR1 activin A receptor, type I 0.159658
MCPH1 microcephalin 1 0.159302
FMN1 formin 1 0.158951
FGR FGR proto-oncogene, Src family tyrosine kinase 0.147597
FN1 fibronectin 1 0.146056
NEFM neurofilament, medium polypeptide 0.146041
LOR loricrin 0.144759
CKM creatine kinase, muscle 0.144439
GYPE glycophorin E (MNS blood group) 0.144279
PGRMC1 progesterone receptor membrane component 1 0.142493