brachydactyly Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A bone development disease characterized by short fingers and toes. (Human Disease Ontology, DOID_0050581)
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Genes

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

Symbol Name Standardized Value
ROR2 receptor tyrosine kinase-like orphan receptor 2 2.22446
GDF5 growth differentiation factor 5 2.20683
GNAS GNAS complex locus 1.95253
IHH indian hedgehog 1.86323
BMPR1B bone morphogenetic protein receptor, type IB 1.72547
HOXD13 homeobox D13 1.67277
IMPAD1 inositol monophosphatase domain containing 1 1.5304
HDAC4 histone deacetylase 4 1.52952
NOG noggin 1.49438
CHSY1 chondroitin sulfate synthase 1 1.45133
FARP2 FERM, RhoGEF and pleckstrin domain protein 2 1.4022
ADAMTSL2 ADAMTS-like 2 1.38472
COL2A1 collagen, type II, alpha 1 1.35856
PDE4D phosphodiesterase 4D, cAMP-specific 1.32454
TRPS1 trichorhinophalangeal syndrome I 1.27301
COX16 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) 1.2521
PTH parathyroid hormone 1.23777
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha 1.191
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 1.19014
GPC1 glypican 1 1.18109
EXD2 exonuclease 3'-5' domain containing 2 1.12783
HEMK1 HemK methyltransferase family member 1 1.12487
FAM58A family with sequence similarity 58, member A 1.1173
PAPLN papilin, proteoglycan-like sulfated glycoprotein 1.1051
CENPL centromere protein L 1.08789
ADAM21 ADAM metallopeptidase domain 21 1.06606
SUSD6 sushi domain containing 6 1.06396
FBN1 fibrillin 1 1.05639
B3GALTL beta 1,3-galactosyltransferase-like 1.05387
SLC39A9 solute carrier family 39, member 9 1.0484
SNX13 sorting nexin 13 1.02524
KIAA0586 KIAA0586 1.01174
EPHA7 EPH receptor A7 0.98011
FGFR3 fibroblast growth factor receptor 3 0.96918
DCAF5 DDB1 and CUL4 associated factor 5 0.956614
STK25 serine/threonine kinase 25 0.956196
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.952438
DAZAP2 DAZ associated protein 2 0.938704
BMPR1A bone morphogenetic protein receptor, type IA 0.934556
STX16 syntaxin 16 0.926692
FERD3L Fer3-like bHLH transcription factor 0.921323
WNT5A wingless-type MMTV integration site family, member 5A 0.918848
CANT1 calcium activated nucleotidase 1 0.897461
VANGL2 VANGL planar cell polarity protein 2 0.897461
GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 0.893359
SYNJ2BP synaptojanin 2 binding protein 0.88434
EVX2 even-skipped homeobox 2 0.879014
CHSY3 chondroitin sulfate synthase 3 0.879014
HOXA13 homeobox A13 0.870825
RAI1 retinoic acid induced 1 0.868368
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 0.866321
KIF1A kinesin family member 1A 0.858952
KCNB2 potassium channel, voltage gated Shab related subfamily B, member 2 0.826178
EIF6 eukaryotic translation initiation factor 6 0.813052
LTBP3 latent transforming growth factor beta binding protein 3 0.807718
OFD1 oral-facial-digital syndrome 1 0.800333
CHD6 chromodomain helicase DNA binding protein 6 0.791311
PTCH1 patched 1 0.788852
C3ORF18 chromosome 3 open reading frame 18 0.785984
MAPKAPK3 mitogen-activated protein kinase-activated protein kinase 3 0.780251
SLURP1 secreted LY6/PLAUR domain containing 1 0.778204
STX5 syntaxin 5 0.777386
D2HGDH D-2-hydroxyglutarate dehydrogenase 0.77575
LTBP2 latent transforming growth factor beta binding protein 2 0.767576
ALG6 ALG6, alpha-1,3-glucosyltransferase 0.745578
TBX3 T-box 3 0.745172
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 0.743954
NR3C2 nuclear receptor subfamily 3, group C, member 2 0.743547
RORA RAR-related orphan receptor A 0.743141
MSX2 msh homeobox 2 0.730976
PRKG2 protein kinase, cGMP-dependent, type II 0.729357
COMP cartilage oligomeric matrix protein 0.721673
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.718039
PRPS1L1 phosphoribosyl pyrophosphate synthetase 1-like 1 0.705547
PTHLH parathyroid hormone-like hormone 0.703134
WNT9A wingless-type MMTV integration site family, member 9A 0.700321
LPCAT3 lysophosphatidylcholine acyltransferase 3 0.696707
EXT1 exostosin glycosyltransferase 1 0.695103
WDR35 WD repeat domain 35 0.695103
GPR35 G protein-coupled receptor 35 0.6939
TGM6 transglutaminase 6 0.690293
BMP2 bone morphogenetic protein 2 0.688692
ATRX alpha thalassemia/mental retardation syndrome X-linked 0.683093
SMOC1 SPARC related modular calcium binding 1 0.682693
FLII flightless I homolog (Drosophila) 0.681495
DNM3 dynamin 3 0.680697
BBS4 Bardet-Biedl syndrome 4 0.67312
PASK PAS domain containing serine/threonine kinase 0.659611
MATN3 matrilin 3 0.656441
SOSTDC1 sclerostin domain containing 1 0.656046
FGD1 FYVE, RhoGEF and PH domain containing 1 0.646953
TNNT3 troponin T type 3 (skeletal, fast) 0.63907
DOCK3 dedicator of cytokinesis 3 0.634742
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 0.631598
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.629635
PRLH prolactin releasing hormone 0.621008
ERH enhancer of rudimentary homolog (Drosophila) 0.620226
ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 0.615138
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 0.612792
WNT2 wingless-type MMTV integration site family member 2 0.608104
SRSF5 serine/arginine-rich splicing factor 5 0.585497
SHH sonic hedgehog 0.58433
DLX1 distal-less homeobox 1 0.581996
JAG1 jagged 1 0.580439
WNK4 WNK lysine deficient protein kinase 4 0.553627
ACTN1 actinin, alpha 1 0.544705
CHD1 chromodomain helicase DNA binding protein 1 0.543155
WNK1 WNK lysine deficient protein kinase 1 0.532701
RAB23 RAB23, member RAS oncogene family 0.522273
TRPV4 transient receptor potential cation channel, subfamily V, member 4 0.520346
COL9A3 collagen, type IX, alpha 3 0.516879
SOX9 SRY (sex determining region Y)-box 9 0.51611
GPC5 glypican 5 0.508041
HDLBP high density lipoprotein binding protein 0.508041
PDE3A phosphodiesterase 3A, cGMP-inhibited 0.50459
BMP3 bone morphogenetic protein 3 0.497321
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 0.496939
ADCY2 adenylate cyclase 2 (brain) 0.491978
CDON cell adhesion associated, oncogene regulated 0.490835
REN renin 0.487788
EVC2 Ellis van Creveld syndrome 2 0.487407
STK39 serine threonine kinase 39 0.482464
FGFR2 fibroblast growth factor receptor 2 0.481705
ARSE arylsulfatase E (chondrodysplasia punctata 1) 0.472225
GHRH growth hormone releasing hormone 0.472225
WNT1 wingless-type MMTV integration site family, member 1 0.471089
LTBP1 latent transforming growth factor beta binding protein 1 0.470711
PTER phosphotriesterase related 0.46466
CHRM1 cholinergic receptor, muscarinic 1 0.458241
COL9A1 collagen, type IX, alpha 1 0.446182
PMP22 peripheral myelin protein 22 0.446182
TWIST2 twist family bHLH transcription factor 2 0.436778
PGM3 phosphoglucomutase 3 0.433772
ALX4 ALX homeobox 4 0.432646
GML glycosylphosphatidylinositol anchored molecule like 0.424389
PHF6 PHD finger protein 6 0.42364
NOTCH2 notch 2 0.416147
NOTCH2NL notch 2 N-terminal like 0.413527
GAS1 growth arrest-specific 1 0.410161
GNA15 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 0.409787
HIP1 huntingtin interacting protein 1 0.404931
DIRAS3 DIRAS family, GTP-binding RAS-like 3 0.403064
COL9A2 collagen, type IX, alpha 2 0.399334
HHIP hedgehog interacting protein 0.387051
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 0.38111
SALL1 spalt-like transcription factor 1 0.370737
DLX5 distal-less homeobox 5 0.368518
SMAD4 SMAD family member 4 0.364824
ZIC2 Zic family member 2 0.357446
ADAR adenosine deaminase, RNA-specific 0.350452
PCNT pericentrin 0.346777
PDE4B phosphodiesterase 4B, cAMP-specific 0.346409
CNTLN centlein, centrosomal protein 0.344207
EVC Ellis van Creveld protein 0.344207
FHL1 four and a half LIM domains 1 0.328834
TGFB1 transforming growth factor, beta 1 0.326281
PPOX protoporphyrinogen oxidase 0.316092
H2AFY H2A histone family, member Y 0.31464
FZD1 frizzled class receptor 1 0.308842
BOC BOC cell adhesion associated, oncogene regulated 0.302698
KMT2B lysine (K)-specific methyltransferase 2B 0.298011
DVL1 dishevelled segment polarity protein 1 0.289027
SYNE1 spectrin repeat containing, nuclear envelope 1 0.284371
NRXN1 neurexin 1 0.280082
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8 0.279367
FLNB filamin B, beta 0.277227
HOXA1 homeobox A1 0.273664
TBX5 T-box 5 0.271886
EFNB1 ephrin-B1 0.265849
COL11A1 collagen, type XI, alpha 1 0.261952
NDN necdin, melanoma antigen (MAGE) family member 0.253831
NOTCH1 notch 1 0.252774
GLI1 GLI family zinc finger 1 0.234573
ALAS2 5'-aminolevulinate synthase 2 0.234225
SIX3 SIX homeobox 3 0.231795
SCNN1G sodium channel, non voltage gated 1 gamma subunit 0.223165
SFRP2 secreted frizzled-related protein 2 0.222479
RUNX2 runt-related transcription factor 2 0.219398
CHD7 chromodomain helicase DNA binding protein 7 0.216672
JAG2 jagged 2 0.215653
MARK2 MAP/microtubule affinity-regulating kinase 2 0.209918
AMELY amelogenin, Y-linked 0.208914
SNRPN small nuclear ribonucleoprotein polypeptide N 0.208914
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 0.208914
RECQL4 RecQ protein-like 4 0.202946
BANF1 barrier to autointegration factor 1 0.182666
EXT2 exostosin glycosyltransferase 2 0.182666
FRZB frizzled-related protein 0.176485
FGFR1 fibroblast growth factor receptor 1 0.170054
PITX1 paired-like homeodomain 1 0.169571
NUP98 nucleoporin 98kDa 0.166995
FBN2 fibrillin 2 0.166768
CAPN10 calpain 10 0.164359
PARK7 parkinson protein 7 0.163523
PDCD1 programmed cell death 1 0.162707
CD47 CD47 molecule 0.162707
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 0.161523
RBPJ recombination signal binding protein for immunoglobulin kappa J region 0.161139
CLEC3A C-type lectin domain family 3, member A 0.160948
LMNA lamin A/C 0.160574
PADI4 peptidyl arginine deiminase, type IV 0.160574
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 0.159838
CLEC2B C-type lectin domain family 2, member B 0.158605
ADO 2-aminoethanethiol (cysteamine) dioxygenase 0.158097