achondroplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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

78 genes co-occuring with the disease achondroplasia 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 3.45854
FGFR2 fibroblast growth factor receptor 2 1.81329
NPPC natriuretic peptide C 1.60279
FGF9 fibroblast growth factor 9 1.39083
FGF1 fibroblast growth factor 1 (acidic) 1.27257
COL2A1 collagen, type II, alpha 1 1.10931
TK1 thymidine kinase 1, soluble 1.05934
STAT1 signal transducer and activator of transcription 1, 91kDa 1.04462
FGF3 fibroblast growth factor 3 1.0442
COMP cartilage oligomeric matrix protein 1.04251
SHOX short stature homeobox 1.02819
NPR2 natriuretic peptide receptor 2 1.02144
FGFR1 fibroblast growth factor receptor 1 1.00625
PTHLH parathyroid hormone-like hormone 0.996127
FOXM1 forkhead box M1 0.983479
IHH indian hedgehog 0.977585
FGF22 fibroblast growth factor 22 0.923387
COL9A2 collagen, type IX, alpha 2 0.790081
GALNS galactosamine (N-acetyl)-6-sulfatase 0.778613
COL10A1 collagen, type X, alpha 1 0.732596
SARNP SAP domain containing ribonucleoprotein 0.705949
FGFRL1 fibroblast growth factor receptor-like 1 0.704742
FRS2 fibroblast growth factor receptor substrate 2 0.693499
COL11A2P1 collagen, type XI, alpha 2 pseudogene 1 0.682294
COL11A2 collagen, type XI, alpha 2 0.681894
SOX9 SRY (sex determining region Y)-box 9 0.667152
EDARADD EDAR-associated death domain 0.598351
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 0.568386
MSX2 msh homeobox 2 0.54393
BMP8B bone morphogenetic protein 8b 0.52536
COL9A3 collagen, type IX, alpha 3 0.51611
TMPRSS13 transmembrane protease, serine 13 0.507273
STAT5B signal transducer and activator of transcription 5B 0.500761
SMURF1 SMAD specific E3 ubiquitin protein ligase 1 0.491215
ARSE arylsulfatase E (chondrodysplasia punctata 1) 0.471089
TRIM47 tripartite motif containing 47 0.46466
IDUA iduronidase, alpha-L- 0.452208
SOX5 SRY (sex determining region Y)-box 5 0.446558
SOX6 SRY (sex determining region Y)-box 6 0.443171
HOMER1 homer scaffolding protein 1 0.430017
ACAN aggrecan 0.42814
HYAL1 hyaluronoglucosaminidase 1 0.425514
SPRY2 sprouty homolog 2 (Drosophila) 0.418394
CDC37 cell division cycle 37 0.413901
RD3 retinal degeneration 3 0.408292
DAD1 defender against cell death 1 0.404931
ARID1B AT rich interactive domain 1B (SWI1-like) 0.401945
ZP3 zona pellucida glycoprotein 3 (sperm receptor) 0.397471
LIG3 ligase III, DNA, ATP-dependent 0.392257
MATN1 matrilin 1, cartilage matrix protein 0.388538
SPAM1 sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 0.379256
PTH parathyroid hormone 0.355235
ANKH ANKH inorganic pyrophosphate transport regulator 0.349717
EVC Ellis van Creveld protein 0.343473
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 0.333583
NR2E3 nuclear receptor subfamily 2, group E, member 3 0.311014
MAGEA4 melanoma antigen family A4 0.31029
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.303059
SLC26A2 solute carrier family 26 (anion exchanger), member 2 0.299452
PSIP1 PC4 and SFRS1 interacting protein 1 0.293334
NF1 neurofibromin 1 0.288668
JAK1 Janus kinase 1 0.285444
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 0.282225
PTK2B protein tyrosine kinase 2 beta 0.275089
FMOD fibromodulin 0.272953
FGF2 fibroblast growth factor 2 (basic) 0.263368
COL11A1 collagen, type XI, alpha 1 0.260891
WNT10A wingless-type MMTV integration site family, member 10A 0.252422
TSKU tsukushi, small leucine rich proteoglycan 0.232836
NPPB natriuretic peptide B 0.230409
FANCL Fanconi anemia, complementation group L 0.200656
PTH1R parathyroid hormone 1 receptor 0.198386
BMPR1A bone morphogenetic protein receptor, type IA 0.19742
FGF8 fibroblast growth factor 8 (androgen-induced) 0.175947
MSX1 msh homeobox 1 0.175146
IGF1 insulin-like growth factor 1 (somatomedin C) 0.160203
NCOA1 nuclear receptor coactivator 1 0.159658
STAT5A signal transducer and activator of transcription 5A 0.158951