thanatophoric dysplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. (Human Disease Ontology, DOID_13481)
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Genes

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

Symbol Name Standardized Value
FGFR3 fibroblast growth factor receptor 3 3.11053
FGFR2 fibroblast growth factor receptor 2 1.60234
STAT1 signal transducer and activator of transcription 1, 91kDa 1.13374
FGF1 fibroblast growth factor 1 (acidic) 0.927519
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 0.88475
FRS2 fibroblast growth factor receptor substrate 2 0.877786
IHH indian hedgehog 0.870415
FGF3 fibroblast growth factor 3 0.861409
FMOD fibromodulin 0.815924
FGFR1 fibroblast growth factor receptor 1 0.793771
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 0.74761
FGF17 fibroblast growth factor 17 0.731786
RAB23 RAB23, member RAS oncogene family 0.698313
STAT5B signal transducer and activator of transcription 5B 0.677105
PTHLH parathyroid hormone-like hormone 0.676308
SMURF1 SMAD specific E3 ubiquitin protein ligase 1 0.667152
FGF8 fibroblast growth factor 8 (androgen-induced) 0.661594
OFD1 oral-facial-digital syndrome 1 0.631598
SPRY2 sprouty homolog 2 (Drosophila) 0.590948
COL2A1 collagen, type II, alpha 1 0.579661
ARID1B AT rich interactive domain 1B (SWI1-like) 0.573828
COL10A1 collagen, type X, alpha 1 0.550134
LMAN1 lectin, mannose-binding, 1 0.545868
EVC Ellis van Creveld protein 0.512648
COMP cartilage oligomeric matrix protein 0.50459
CLPS colipase, pancreatic 0.498085
PSIP1 PC4 and SFRS1 interacting protein 1 0.494266
SLC26A2 solute carrier family 26 (anion exchanger), member 2 0.466928
FGF9 fibroblast growth factor 9 0.463527
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 0.448441
PTK2B protein tyrosine kinase 2 beta 0.440914
PTH1R parathyroid hormone 1 receptor 0.358183
BMPR1A bone morphogenetic protein receptor, type IA 0.357077
PTH parathyroid hormone 0.306672
NCOA1 nuclear receptor coactivator 1 0.304503
STAT5A signal transducer and activator of transcription 5A 0.30342
FGFR4 fibroblast growth factor receptor 4 0.293694
FGF2 fibroblast growth factor 2 (basic) 0.285444
FKTN fukutin 0.246448
TYK2 tyrosine kinase 2 0.246098
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.220424
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 0.218715
BGN biglycan 0.204263
LIG3 ligase III, DNA, ATP-dependent 0.19582
HSPG2 heparan sulfate proteoglycan 2 0.171535
SOX9 SRY (sex determining region Y)-box 9 0.161139