Achondroplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. (Human Disease Ontology, DOID_4480)
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Genes

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

Symbol Name Standardized Value
FGFR3 fibroblast growth factor receptor 3 3.926
NPPC natriuretic peptide C 3.298
NPR2 natriuretic peptide receptor 2 2.898
FGFR2 fibroblast growth factor receptor 2 2.731
SHOX short stature homeobox 2.604
IHH indian hedgehog 2.516
FGFR1 fibroblast growth factor receptor 1 2.491
COL2A1 collagen, type II, alpha 1 2.459
FGF18 fibroblast growth factor 18 2.366
FGF9 fibroblast growth factor 9 2.35
FGF3 fibroblast growth factor 3 2.298
ACAN aggrecan 2.261
FGF4 fibroblast growth factor 4 2.258
FGF8 fibroblast growth factor 8 (androgen-induced) 2.253
SOX9 SRY (sex determining region Y)-box 9 2.2
FGF6 fibroblast growth factor 6 2.19
FGF13 fibroblast growth factor 13 2.184
FGF17 fibroblast growth factor 17 2.183
FGF10 fibroblast growth factor 10 2.181
FGF16 fibroblast growth factor 16 2.176
FGF22 fibroblast growth factor 22 2.175
FGF5 fibroblast growth factor 5 2.168
FGF7 fibroblast growth factor 7 2.167
FGF20 fibroblast growth factor 20 2.165
SLC26A2 solute carrier family 26 (anion exchanger), member 2 2.129
COL10A1 collagen, type X, alpha 1 2.125
PTHLH parathyroid hormone-like hormone 2.111
FGF1 fibroblast growth factor 1 (acidic) 2.079
FGFR4 fibroblast growth factor receptor 4 2.022
RUNX2 runt-related transcription factor 2 2.014
FGF2 fibroblast growth factor 2 (basic) 2.01
PRKG2 protein kinase, cGMP-dependent, type II 1.934
NPR3 natriuretic peptide receptor 3 1.933
PTPN11 protein tyrosine phosphatase, non-receptor type 11 1.919
EVC2 Ellis van Creveld syndrome 2 1.916
COL1A1 collagen, type I, alpha 1 1.901
COL1A2 collagen, type I, alpha 2 1.862
FGF23 fibroblast growth factor 23 1.858
GH1 growth hormone 1 1.829
IGF1 insulin-like growth factor 1 (somatomedin C) 1.829
SOX5 SRY (sex determining region Y)-box 5 1.822
ALPL alkaline phosphatase, liver/bone/kidney 1.811
SOX6 SRY (sex determining region Y)-box 6 1.79
STAT1 signal transducer and activator of transcription 1, 91kDa 1.777
FRS2 fibroblast growth factor receptor substrate 2 1.76
NPPA natriuretic peptide A 1.73
GH2 growth hormone 2 1.725
GDF5 growth differentiation factor 5 1.714
SP7 Sp7 transcription factor 1.713
RHD Rh blood group, D antigen 1.694
NPR1 natriuretic peptide receptor 1 1.681
PTH1R parathyroid hormone 1 receptor 1.655
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen) 1.655
ACVR1 activin A receptor, type I 1.653
COMP cartilage oligomeric matrix protein 1.635
HRAS Harvey rat sarcoma viral oncogene homolog 1.634
CSH2 chorionic somatomammotropin hormone 2 1.631
TRPV4 transient receptor potential cation channel, subfamily V, member 4 1.627
BMP2 bone morphogenetic protein 2 1.607
COL11A2 collagen, type XI, alpha 2 1.606
MMP13 matrix metallopeptidase 13 1.602
PHEX phosphate regulating endopeptidase homolog, X-linked 1.6
BMP4 bone morphogenetic protein 4 1.594
MATN3 matrilin 3 1.581
COL9A2 collagen, type IX, alpha 2 1.563
ARID1B AT rich interactive domain 1B (SWI1-like) 1.557
MSX2 msh homeobox 2 1.55
GHR growth hormone receptor 1.548
SRY sex determining region Y 1.543
TRAPPC2 trafficking protein particle complex 2 1.542
PTH parathyroid hormone 1.542
TK1 thymidine kinase 1, soluble 1.534
BGLAP bone gamma-carboxyglutamate (gla) protein 1.533
FBN1 fibrillin 1 1.531
NF1 neurofibromin 1 1.523
CRTAP cartilage associated protein 1.518
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 1.518
IGFALS insulin-like growth factor binding protein, acid labile subunit 1.511
FGFRL1 fibroblast growth factor receptor-like 1 1.486
COL9A1 collagen, type IX, alpha 1 1.486
NKX3-2 NK3 homeobox 2 1.483
SRA1 steroid receptor RNA activator 1 1.477
IGFBP3 insulin-like growth factor binding protein 3 1.468
MAPK3 mitogen-activated protein kinase 3 1.467
TGFB1 transforming growth factor, beta 1 1.461
TRIP11 thyroid hormone receptor interactor 11 1.454
CUL7 cullin 7 1.45
SOS1 son of sevenless homolog 1 (Drosophila) 1.441
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1.439
MAP2K1 mitogen-activated protein kinase kinase 1 1.438
RET ret proto-oncogene 1.434
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 1.429
EXT1 exostosin glycosyltransferase 1 1.427
SOST sclerostin 1.421
FLNB filamin B, beta 1.412
OSTN osteocrin 1.41
SHH sonic hedgehog 1.382
COL9A3 collagen, type IX, alpha 3 1.375
BMP7 bone morphogenetic protein 7 1.374
OBSL1 obscurin-like 1 1.371
TBX6 T-box 6 1.37
PAPPA2 pappalysin 2 1.366
PAPPA pregnancy-associated plasma protein A, pappalysin 1 1.356
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.346
CHRD chordin 1.342
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.34
ARSL arylsulfatase L 1.333
COL11A1 collagen, type XI, alpha 1 1.318
ACP5 acid phosphatase 5, tartrate resistant 1.313
DLX5 distal-less homeobox 5 1.309
GLI1 GLI family zinc finger 1 1.308
CCDC8 coiled-coil domain containing 8 1.304
EXT2 exostosin glycosyltransferase 2 1.304
BHLHA9 basic helix-loop-helix family, member a9 1.302
ANKRD11 ankyrin repeat domain 11 1.297
CLCN7 chloride channel, voltage-sensitive 7 1.294
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 1.292
CTSK cathepsin K 1.283
SPRY2 sprouty homolog 2 (Drosophila) 1.279
BMPR1A bone morphogenetic protein receptor, type IA 1.276
PAX3 paired box 3 1.265
GLI3 GLI family zinc finger 3 1.263
DMD dystrophin 1.259
INS insulin 1.257
EVC Ellis van Creveld protein 1.255
GLI2 GLI family zinc finger 2 1.255
STAT5B signal transducer and activator of transcription 5B 1.25
MPZL1 myelin protein zero-like 1 1.243
MATN1 matrilin 1, cartilage matrix protein 1.243
MME membrane metallo-endopeptidase 1.231
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 1.23
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1.23
XYLT1 xylosyltransferase I 1.229
GRB2 growth factor receptor-bound protein 2 1.228
MSX1 msh homeobox 1 1.217
NOG noggin 1.211
VPREB1 pre-B lymphocyte 1 1.211
TSPY1 testis specific protein, Y-linked 1 1.211
BMPR1B bone morphogenetic protein receptor, type IB 1.209
PTCH1 patched 1 1.2
IGF2 insulin-like growth factor 2 1.2
SPP1 secreted phosphoprotein 1 1.199
PCNT pericentrin 1.194
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 1.192
LRP5 low density lipoprotein receptor-related protein 5 1.192
KIAA1614 KIAA1614 1.187
IFT20 intraflagellar transport 20 1.183
TACC3 transforming, acidic coiled-coil containing protein 3 1.183
WNT5A wingless-type MMTV integration site family, member 5A 1.183
BMP1 bone morphogenetic protein 1 1.176
IBSP integrin-binding sialoprotein 1.17
SMAD9 SMAD family member 9 1.169
IGF1R insulin-like growth factor 1 receptor 1.163
TWIST1 twist family bHLH transcription factor 1 1.162
PRRX1 paired related homeobox 1 1.157
MECP2 methyl CpG binding protein 2 1.156
BGN biglycan 1.152
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 1.151
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 1.147
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 1.142
BMP6 bone morphogenetic protein 6 1.141
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 1.138
DCN decorin 1.138
SMO smoothened, frizzled class receptor 1.137
EPYC epiphycan 1.137
KL klotho 1.133
FBN2 fibrillin 2 1.133
SMAD5 SMAD family member 5 1.13
P3H1 prolyl 3-hydroxylase 1 1.13
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 1.129
RNF11 ring finger protein 11 1.128
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1 1.126
ZFY zinc finger protein, Y-linked 1.123
TMED8 transmembrane emp24 protein transport domain containing 8 1.121
FIBP fibroblast growth factor (acidic) intracellular binding protein 1.118
SPRY4 sprouty homolog 4 (Drosophila) 1.109
GUCA2B guanylate cyclase activator 2B (uroguanylin) 1.108
PRKG1 protein kinase, cGMP-dependent, type I 1.107
GDF6 growth differentiation factor 6 1.103
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1.102
TGFB3 transforming growth factor, beta 3 1.096
NIPBL Nipped-B homolog (Drosophila) 1.096
HBB hemoglobin, beta 1.096
GALNS galactosamine (N-acetyl)-6-sulfatase 1.094
EGFR epidermal growth factor receptor 1.093
HSPG2 heparan sulfate proteoglycan 2 1.089
NSD1 nuclear receptor binding SET domain protein 1 1.084
MAGEA4 melanoma antigen family A4 1.084
IFITM5 interferon induced transmembrane protein 5 1.072
SMAD6 SMAD family member 6 1.068
DYM dymeclin 1.067
CCN6 cellular communication network factor 6 1.066
TCOF1 Treacher Collins-Franceschetti syndrome 1 1.066
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic 1.062
DIS3L2 DIS3 like 3'-5' exoribonuclease 2 1.061
GNAS GNAS complex locus 1.059
FKBP10 FK506 binding protein 10, 65 kDa 1.059
MEF2C myocyte enhancer factor 2C 1.058
HAPLN1 hyaluronan and proteoglycan link protein 1 1.055
SRC SRC proto-oncogene, non-receptor tyrosine kinase 1.053
IDUA iduronidase, alpha-L- 1.052
DUSP6 dual specificity phosphatase 6 1.051
IFT172 intraflagellar transport 172 1.04
WNT9A wingless-type MMTV integration site family, member 9A 1.04
SEC24D SEC24 family member D 1.04
FMOD fibromodulin 1.038
TWIST2 twist family bHLH transcription factor 2 1.038
KAT6B K(lysine) acetyltransferase 6B 1.036
LCORL ligand dependent nuclear receptor corepressor-like 1.033
STAT5A signal transducer and activator of transcription 5A 1.026
GDF3 growth differentiation factor 3 1.025
SOX11 SRY (sex determining region Y)-box 11 1.023
KRTAP19-2 keratin associated protein 19-2 1.023
SPRY3 sprouty homolog 3 (Drosophila) 1.022
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 1.019
BRCA1 breast cancer 1, early onset 1.017
COPS7B COP9 signalosome subunit 7B 1.015
RARG retinoic acid receptor, gamma 1.015
GUCY2C guanylate cyclase 2C 1.011
MYO1H myosin IH 1.009
CHD8 chromodomain helicase DNA binding protein 8 1.008
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.006
DNPEP aspartyl aminopeptidase 1.004
KIAA0753 KIAA0753 1.002
TP53 tumor protein p53 1.0