Hypochondroplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. (Human Disease Ontology, DOID_0080041)
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Genes

95 genes co-occuring with the disease Hypochondroplasia 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 3.594
SHOX short stature homeobox 2.605
NPPC natriuretic peptide C 2.554
FGFR2 fibroblast growth factor receptor 2 2.279
NPR2 natriuretic peptide receptor 2 2.231
IHH indian hedgehog 2.167
COL2A1 collagen, type II, alpha 1 2.15
FGFR1 fibroblast growth factor receptor 1 2.098
ACAN aggrecan 1.932
TK1 thymidine kinase 1, soluble 1.91
FGF3 fibroblast growth factor 3 1.865
FGF9 fibroblast growth factor 9 1.798
FGF18 fibroblast growth factor 18 1.781
FGF8 fibroblast growth factor 8 (androgen-induced) 1.757
FGF4 fibroblast growth factor 4 1.698
FGF16 fibroblast growth factor 16 1.69
FGF10 fibroblast growth factor 10 1.684
TRIP11 thyroid hormone receptor interactor 11 1.684
FGF6 fibroblast growth factor 6 1.679
FGF22 fibroblast growth factor 22 1.67
CUL7 cullin 7 1.666
FGF20 fibroblast growth factor 20 1.666
SOX9 SRY (sex determining region Y)-box 9 1.663
IGFALS insulin-like growth factor binding protein, acid labile subunit 1.655
FGF17 fibroblast growth factor 17 1.652
FGF5 fibroblast growth factor 5 1.649
FGF1 fibroblast growth factor 1 (acidic) 1.648
IGF1 insulin-like growth factor 1 (somatomedin C) 1.642
FGF7 fibroblast growth factor 7 1.627
FGF13 fibroblast growth factor 13 1.625
FGFR4 fibroblast growth factor receptor 4 1.605
RUNX2 runt-related transcription factor 2 1.598
TRAPPC2 trafficking protein particle complex 2 1.554
COL10A1 collagen, type X, alpha 1 1.552
GH1 growth hormone 1 1.501
ARID1B AT rich interactive domain 1B (SWI1-like) 1.485
FRS2 fibroblast growth factor receptor substrate 2 1.472
OBSL1 obscurin-like 1 1.471
PRKG2 protein kinase, cGMP-dependent, type II 1.464
CCDC8 coiled-coil domain containing 8 1.454
STAT1 signal transducer and activator of transcription 1, 91kDa 1.453
PTHLH parathyroid hormone-like hormone 1.449
FGF2 fibroblast growth factor 2 (basic) 1.439
SLC26A2 solute carrier family 26 (anion exchanger), member 2 1.428
IGFBP3 insulin-like growth factor binding protein 3 1.427
ALPL alkaline phosphatase, liver/bone/kidney 1.426
COMP cartilage oligomeric matrix protein 1.425
FGF23 fibroblast growth factor 23 1.41
GH2 growth hormone 2 1.403
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 1.392
COL1A2 collagen, type I, alpha 2 1.359
GHR growth hormone receptor 1.358
SOX5 SRY (sex determining region Y)-box 5 1.34
VPREB1 pre-B lymphocyte 1 1.334
FLNB filamin B, beta 1.33
PTH1R parathyroid hormone 1 receptor 1.306
COL1A1 collagen, type I, alpha 1 1.305
SOS1 son of sevenless homolog 1 (Drosophila) 1.301
EXT2 exostosin glycosyltransferase 2 1.286
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen) 1.265
ANKRD11 ankyrin repeat domain 11 1.26
SOX6 SRY (sex determining region Y)-box 6 1.255
EXT1 exostosin glycosyltransferase 1 1.254
CSH2 chorionic somatomammotropin hormone 2 1.241
SPRED3 sprouty-related, EVH1 domain containing 3 1.238
SP7 Sp7 transcription factor 1.218
PTH parathyroid hormone 1.209
GDF5 growth differentiation factor 5 1.209
PTPN11 protein tyrosine phosphatase, non-receptor type 11 1.192
FGFRL1 fibroblast growth factor receptor-like 1 1.191
HSPG2 heparan sulfate proteoglycan 2 1.185
PAPPA2 pappalysin 2 1.172
IGF2 insulin-like growth factor 2 1.157
TRPV4 transient receptor potential cation channel, subfamily V, member 4 1.155
CRTAP cartilage associated protein 1.149
GRB2 growth factor receptor-bound protein 2 1.145
EXTL1 exostosin-like glycosyltransferase 1 1.14
TACC3 transforming, acidic coiled-coil containing protein 3 1.135
CANT1 calcium activated nucleotidase 1 1.133
NOG noggin 1.128
FBN1 fibrillin 1 1.127
PPHLN1 periphilin 1 1.122
PHEX phosphate regulating endopeptidase homolog, X-linked 1.113
STAT5B signal transducer and activator of transcription 5B 1.11
BGLAP bone gamma-carboxyglutamate (gla) protein 1.109
CEP152 centrosomal protein 152kDa 1.104
MAPK3 mitogen-activated protein kinase 3 1.099
RASIP1 Ras interacting protein 1 1.094
A2ML1 alpha-2-macroglobulin-like 1 1.05
BMPR1A bone morphogenetic protein receptor, type IA 1.039
FAM111A family with sequence similarity 111, member A 1.036
NEK1 NIMA-related kinase 1 1.036
MAP2K1 mitogen-activated protein kinase kinase 1 1.022
BMP4 bone morphogenetic protein 4 1.021
DUSP6 dual specificity phosphatase 6 1.008