Acrocephalosyndactylia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
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

297 genes co-occuring with the disease Acrocephalosyndactylia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
FGFR2 fibroblast growth factor receptor 2 3.678
TWIST1 twist family bHLH transcription factor 1 3.135
GLI3 GLI family zinc finger 3 3.109
FGFR3 fibroblast growth factor receptor 3 3.062
FGFR1 fibroblast growth factor receptor 1 2.978
RAB23 RAB23, member RAS oncogene family 2.923
MSX2 msh homeobox 2 2.576
MEGF8 multiple EGF-like-domains 8 2.554
TCF12 transcription factor 12 2.503
EFNB1 ephrin-B1 2.419
FGF10 fibroblast growth factor 10 2.405
RUNX2 runt-related transcription factor 2 2.399
FGF8 fibroblast growth factor 8 (androgen-induced) 2.335
SHH sonic hedgehog 2.327
ARID1B AT rich interactive domain 1B (SWI1-like) 2.29
FGF13 fibroblast growth factor 13 2.28
ALX4 ALX homeobox 4 2.215
FGF7 fibroblast growth factor 7 2.206
FGF9 fibroblast growth factor 9 2.199
FERD3L Fer3-like bHLH transcription factor 2.198
TWIST2 twist family bHLH transcription factor 2 2.19
FGF3 fibroblast growth factor 3 2.165
FGF4 fibroblast growth factor 4 2.16
FGF2 fibroblast growth factor 2 (basic) 2.132
FGF18 fibroblast growth factor 18 2.11
IHH indian hedgehog 2.102
HAND2 heart and neural crest derivatives expressed 2 2.085
GLI1 GLI family zinc finger 1 2.073
FGF16 fibroblast growth factor 16 2.07
FGF17 fibroblast growth factor 17 2.068
FGF22 fibroblast growth factor 22 2.065
FGF6 fibroblast growth factor 6 2.063
FGF20 fibroblast growth factor 20 2.045
FGF5 fibroblast growth factor 5 2.006
LMBR1 limb development membrane protein 1 1.986
FGFR4 fibroblast growth factor receptor 4 1.975
MSX1 msh homeobox 1 1.97
VPREB1 pre-B lymphocyte 1 1.943
FGF1 fibroblast growth factor 1 (acidic) 1.914
SOX9 SRY (sex determining region Y)-box 9 1.911
PTCH1 patched 1 1.905
ZP2 zona pellucida glycoprotein 2 (sperm receptor) 1.899
EFNA4 ephrin-A4 1.895
BBS9 Bardet-Biedl syndrome 9 1.872
BMP4 bone morphogenetic protein 4 1.848
GLI2 GLI family zinc finger 2 1.837
COL2A1 collagen, type II, alpha 1 1.806
PTPN11 protein tyrosine phosphatase, non-receptor type 11 1.794
BGLAP bone gamma-carboxyglutamate (gla) protein 1.748
FRS2 fibroblast growth factor receptor substrate 2 1.724
HOXD13 homeobox D13 1.716
KIF7 kinesin family member 7 1.715
BMP2 bone morphogenetic protein 2 1.681
TCOF1 Treacher Collins-Franceschetti syndrome 1 1.681
IL11RA interleukin 11 receptor, alpha 1.675
SMAD6 SMAD family member 6 1.663
SRA1 steroid receptor RNA activator 1 1.662
FREM1 FRAS1 related extracellular matrix 1 1.643
CPXM2 carboxypeptidase X (M14 family), member 2 1.622
DLX5 distal-less homeobox 5 1.613
AXIN2 axin 2 1.613
FGFRL1 fibroblast growth factor receptor-like 1 1.61
CHD7 chromodomain helicase DNA binding protein 7 1.607
SP7 Sp7 transcription factor 1.591
ZIC1 Zic family member 1 1.589
SNX13 sorting nexin 13 1.575
NOG noggin 1.558
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 1.554
SMO smoothened, frizzled class receptor 1.551
ALX3 ALX homeobox 3 1.547
HRAS Harvey rat sarcoma viral oncogene homolog 1.545
DUSP6 dual specificity phosphatase 6 1.538
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.538
TGFB1 transforming growth factor, beta 1 1.533
ARL13B ADP-ribosylation factor-like 13B 1.53
RET ret proto-oncogene 1.524
PAX9 paired box 9 1.521
IRF6 interferon regulatory factor 6 1.515
PRRX1 paired related homeobox 1 1.506
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.493
ANKUB1 ankyrin repeat and ubiquitin domain containing 1 1.477
RDH10 retinol dehydrogenase 10 (all-trans) 1.467
DLX2 distal-less homeobox 2 1.459
COL1A1 collagen, type I, alpha 1 1.455
IBSP integrin-binding sialoprotein 1.455
PAX3 paired box 3 1.452
PITX2 paired-like homeodomain 2 1.448
MAPK3 mitogen-activated protein kinase 3 1.446
RAB8A RAB8A, member RAS oncogene family 1.438
CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 1.433
SPRY2 sprouty homolog 2 (Drosophila) 1.431
DLX6 distal-less homeobox 6 1.42
JAG1 jagged 1 1.418
PAX6 paired box 6 1.418
EPHA1 EPH receptor A1 1.414
SUFU suppressor of fused homolog (Drosophila) 1.409
RAB39B RAB39B, member RAS oncogene family 1.404
ETV5 ets variant 5 1.402
SIX3 SIX homeobox 3 1.402
BMP3 bone morphogenetic protein 3 1.397
EVC2 Ellis van Creveld syndrome 2 1.393
DHH desert hedgehog 1.387
MAP2K1 mitogen-activated protein kinase kinase 1 1.381
BHLHA9 basic helix-loop-helix family, member a9 1.38
TBX1 T-box 1 1.377
SPP1 secreted phosphoprotein 1 1.369
RAB38 RAB38, member RAS oncogene family 1.367
BARX1 BARX homeobox 1 1.367
EPHA4 EPH receptor A4 1.365
TGFB3 transforming growth factor, beta 3 1.365
TBX5 T-box 5 1.358
ALPL alkaline phosphatase, liver/bone/kidney 1.357
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 1.354
WNT1 wingless-type MMTV integration site family, member 1 1.353
TCF3 transcription factor 3 1.333
OFD1 oral-facial-digital syndrome 1 1.332
ZEB2 zinc finger E-box binding homeobox 2 1.329
IQCE IQ motif containing E 1.327
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1.326
LRP5 low density lipoprotein receptor-related protein 5 1.325
ZNF141 zinc finger protein 141 1.32
GRB2 growth factor receptor-bound protein 2 1.318
COL1A2 collagen, type I, alpha 2 1.315
RAB10 RAB10, member RAS oncogene family 1.313
PROKR2 prokineticin receptor 2 1.312
GDF6 growth differentiation factor 6 1.304
HOXA13 homeobox A13 1.301
EGF epidermal growth factor 1.301
GBX2 gastrulation brain homeobox 2 1.3
FBLN1 fibulin 1 1.299
FGF23 fibroblast growth factor 23 1.296
CDC42EP4 CDC42 effector protein (Rho GTPase binding) 4 1.295
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 1.291
RAB28 RAB28, member RAS oncogene family 1.291
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 1.29
MYO1H myosin IH 1.288
TGFBR1 transforming growth factor, beta receptor 1 1.286
SNAI1 snail family zinc finger 1 1.285
RAB21 RAB21, member RAS oncogene family 1.278
SPRY3 sprouty homolog 3 (Drosophila) 1.276
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 1.275
COL10A1 collagen, type X, alpha 1 1.275
BMP7 bone morphogenetic protein 7 1.273
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 1.273
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 1.273
TGFB2 transforming growth factor, beta 2 1.27
BMPR1A bone morphogenetic protein receptor, type IA 1.263
FBN1 fibrillin 1 1.262
SNAI2 snail family zinc finger 2 1.262
GDF5 growth differentiation factor 5 1.258
OSR2 odd-skipped related transciption factor 2 1.257
COL11A1 collagen, type XI, alpha 1 1.256
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 1.255
RAB11A RAB11A, member RAS oncogene family 1.253
GET4 golgi to ER traffic protein 4 homolog (S. cerevisiae) 1.25
SOS1 son of sevenless homolog 1 (Drosophila) 1.25
SIX2 SIX homeobox 2 1.245
CEP19 centrosomal protein 19kDa 1.244
GREM1 gremlin 1, DAN family BMP antagonist 1.244
ACAN aggrecan 1.241
TBX4 T-box 4 1.231
NDE1 nudE neurodevelopment protein 1 1.23
BBS1 Bardet-Biedl syndrome 1 1.226
EFNA2 ephrin-A2 1.223
DLX3 distal-less homeobox 3 1.222
WNT5A wingless-type MMTV integration site family, member 5A 1.221
RECQL4 RecQ protein-like 4 1.22
ZIC3 Zic family member 3 1.219
RAB3IP RAB3A interacting protein 1.217
WNT7B wingless-type MMTV integration site family, member 7B 1.216
ALX1 ALX homeobox 1 1.215
ACTB actin, beta 1.213
SPRY4 sprouty homolog 4 (Drosophila) 1.212
ETV4 ets variant 4 1.211
EN1 engrailed homeobox 1 1.208
WNT3A wingless-type MMTV integration site family, member 3A 1.204
NUDT10 nudix (nucleoside diphosphate linked moiety X)-type motif 10 1.204
PCDHGB3 protocadherin gamma subfamily B, 3 1.203
SOX2 SRY (sex determining region Y)-box 2 1.201
RAB31 RAB31, member RAS oncogene family 1.195
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 1.192
TAAR1 trace amine associated receptor 1 1.19
CDON cell adhesion associated, oncogene regulated 1.187
EYA1 EYA transcriptional coactivator and phosphatase 1 1.186
WNT9B wingless-type MMTV integration site family, member 9B 1.18
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1.178
GAS1 growth arrest-specific 1 1.177
SOX10 SRY (sex determining region Y)-box 10 1.176
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 1.174
OTX2 orthodenticle homeobox 2 1.173
FOXC2 forkhead box C2 1.167
WNT3 wingless-type MMTV integration site family, member 3 1.167
SATB2 SATB homeobox 2 1.164
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa 1.163
RAB17 RAB17, member RAS oncogene family 1.163
MYOD1 myogenic differentiation 1 1.162
TP53 tumor protein p53 1.16
BBS7 Bardet-Biedl syndrome 7 1.16
RAB27A RAB27A, member RAS oncogene family 1.16
HHIP hedgehog interacting protein 1.154
BBIP1 BBSome interacting protein 1 1.152
EXOC6B exocyst complex component 6B 1.15
ALDH1A2 aldehyde dehydrogenase 1 family, member A2 1.147
LMX1B LIM homeobox transcription factor 1, beta 1.144
SP8 Sp8 transcription factor 1.139
MECP2 methyl CpG binding protein 2 1.138
NF1 neurofibromin 1 1.137
MC4R melanocortin 4 receptor 1.136
MAGEA4 melanoma antigen family A4 1.135
BBS10 Bardet-Biedl syndrome 10 1.134
TBX3 T-box 3 1.132
KIF3A kinesin family member 3A 1.13
BEND6 BEN domain containing 6 1.13
DISP1 dispatched homolog 1 (Drosophila) 1.128
PTHLH parathyroid hormone-like hormone 1.127
BBS2 Bardet-Biedl syndrome 2 1.122
AGFG1 ArfGAP with FG repeats 1 1.12
IFT27 intraflagellar transport 27 1.119
EXOSC2 exosome component 2 1.115
BBS4 Bardet-Biedl syndrome 4 1.115
TCF15 transcription factor 15 (basic helix-loop-helix) 1.113
RAB18 RAB18, member RAS oncogene family 1.11
SRY sex determining region Y 1.108
FOXF1 forkhead box F1 1.108
RAB6A RAB6A, member RAS oncogene family 1.108
ZIC2 Zic family member 2 1.106
GREM2 gremlin 2, DAN family BMP antagonist 1.105
GATA4 GATA binding protein 4 1.104
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 1.103
RAB34 RAB34, member RAS oncogene family 1.103
ADCY3 adenylate cyclase 3 1.103
SMAD4 SMAD family member 4 1.102
MTREX Mtr4 exosome RNA helicase 1.102
RAB5A RAB5A, member RAS oncogene family 1.101
ATRN attractin 1.093
TAS2R3 taste receptor, type 2, member 3 1.092
POLR1A polymerase (RNA) I polypeptide A, 194kDa 1.088
LRP6 low density lipoprotein receptor-related protein 6 1.086
MCPH1 microcephalin 1 1.085
C3ORF18 chromosome 3 open reading frame 18 1.084
NPPC natriuretic peptide C 1.084
TMEM216 transmembrane protein 216 1.082
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.078
RAB3A RAB3A, member RAS oncogene family 1.074
CCM2 cerebral cavernous malformation 2 1.074
DMP1 dentin matrix acidic phosphoprotein 1 1.072
FOXP2 forkhead box P2 1.071
CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 1.071
RAB35 RAB35, member RAS oncogene family 1.069
CEP290 centrosomal protein 290kDa 1.069
NOTCH2 notch 2 1.068
ZNF416 zinc finger protein 416 1.067
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.066
SUSD1 sushi domain containing 1 1.065
WNT10B wingless-type MMTV integration site family, member 10B 1.06
COL8A2 collagen, type VIII, alpha 2 1.059
RILPL1 Rab interacting lysosomal protein-like 1 1.058
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 1.058
AKIRIN2 akirin 2 1.057
NEUROD1 neuronal differentiation 1 1.054
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like 1.054
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 1.049
BOC BOC cell adhesion associated, oncogene regulated 1.049
SOST sclerostin 1.049
SHOC2 soc-2 suppressor of clear homolog (C. elegans) 1.049
ANOS1 anosmin 1 1.049
EVC Ellis van Creveld protein 1.046
ACVR1 activin A receptor, type I 1.039
PRKCA protein kinase C, alpha 1.038
CDC45 cell division cycle 45 1.036
DHCR7 7-dehydrocholesterol reductase 1.035
AKT2 v-akt murine thymoma viral oncogene homolog 2 1.033
LEF1 lymphoid enhancer-binding factor 1 1.032
VPS13B vacuolar protein sorting 13 homolog B (yeast) 1.032
DVL1 dishevelled segment polarity protein 1 1.032
POTEF POTE ankyrin domain family, member F 1.03
SFRP1 secreted frizzled-related protein 1 1.028
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 1.028
CFAP47 cilia and flagella associated protein 47 1.026
FMN1 formin 1 1.023
PAX7 paired box 7 1.023
NODAL nodal growth differentiation factor 1.022
ZEB1 zinc finger E-box binding homeobox 1 1.021
SFRP2 secreted frizzled-related protein 2 1.02
EMCN endomucin 1.018
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 1.017
FGR FGR proto-oncogene, Src family tyrosine kinase 1.014
DNAH1 dynein, axonemal, heavy chain 1 1.013
BBS12 Bardet-Biedl syndrome 12 1.01
ARHGAP32 Rho GTPase activating protein 32 1.007
NIPBL Nipped-B homolog (Drosophila) 1.005
MYF5 myogenic factor 5 1.005
PGAM2 phosphoglycerate mutase 2 (muscle) 1.005
RAB13 RAB13, member RAS oncogene family 1.004
IGF1 insulin-like growth factor 1 (somatomedin C) 1.003
TBX22 T-box 22 1.003
KATNB1 katanin p80 (WD repeat containing) subunit B 1 1.002