Achondroplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0001080
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Genes

45 genes associated with the disease Achondroplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
ARID1B AT rich interactive domain 1B (SWI1-like)
BCL2 B-cell CLL/lymphoma 2
CAV1 caveolin 1, caveolae protein, 22kDa
CCND1 cyclin D1
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
DCN decorin
EDN3 endothelin 3
EPHB2 EPH receptor B2
EVC Ellis van Creveld protein
FGF1 fibroblast growth factor 1 (acidic)
FGF2 fibroblast growth factor 2 (basic)
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GH1 growth hormone 1
GRB10 growth factor receptor-bound protein 10
HDAC6 histone deacetylase 6
IFT20 intraflagellar transport 20
IGF1 insulin-like growth factor 1 (somatomedin C)
IL17A interleukin 17A
IL36RN interleukin 36 receptor antagonist
LEMD3 LEM domain containing 3
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MSX1 msh homeobox 1
NLRP3 NLR family, pyrin domain containing 3
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
POU1F1 POU class 1 homeobox 1
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
PTRH1 peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)
SHOX short stature homeobox
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SNAI1 snail family zinc finger 1
SPRED2 sprouty-related, EVH1 domain containing 2
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
TNF tumor necrosis factor
TP63 tumor protein p63