Osteogenesis Imperfecta Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (Human Disease Ontology, DOID_12347)
External Link https://www.disgenet.org/browser/0/1/0/C1833736
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Genes

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

Symbol Name
ACTB actin, beta
ACVR2B activin A receptor, type IIB
ALPL alkaline phosphatase, liver/bone/kidney
ANO1 anoctamin 1, calcium activated chloride channel
ANO5 anoctamin 5
BAAT bile acid CoA:amino acid N-acyltransferase
BEST1 bestrophin 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BGN biglycan
BMP1 bone morphogenetic protein 1
CD38 CD38 molecule
CD44 CD44 molecule (Indian blood group)
CHRM3 cholinergic receptor, muscarinic 3
COASY CoA synthase
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COX2
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CREB3L1 cAMP responsive element binding protein 3-like 1
CRTAP cartilage associated protein
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CXCR4 chemokine (C-X-C motif) receptor 4
DCN decorin
DHX30 DEAH (Asp-Glu-Ala-His) box helicase 30
DLX3 distal-less homeobox 3
DMD dystrophin
DNAJC12 DnaJ (Hsp40) homolog, subfamily C, member 12
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
FAM46A family with sequence similarity 46, member A
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FN1 fibronectin 1
FOXP1 forkhead box P1
GH1 growth hormone 1
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GPATCH8 G patch domain containing 8
GPR180 G protein-coupled receptor 180
IFITM5 interferon induced transmembrane protein 5
IGF1 insulin-like growth factor 1 (somatomedin C)
IL31RA interleukin 31 receptor A
KRIT1 KRIT1, ankyrin repeat containing
LAMC2 laminin, gamma 2
LOX lysyl oxidase
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED18 mediator complex subunit 18
MESD mesoderm development LRP chaperone
MSTN myostatin
NBAS neuroblastoma amplified sequence
P3H1 prolyl 3-hydroxylase 1
P4HB prolyl 4-hydroxylase, beta polypeptide
PADI1 peptidyl arginine deiminase, type I
PDIA2 protein disulfide isomerase family A, member 2
PLA1A phospholipase A1 member A
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLS3 plastin 3
PNPLA2 patatin-like phospholipase domain containing 2
PPIB peptidylprolyl isomerase B (cyclophilin B)
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PPP1R2P9 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
RNASE1 ribonuclease, RNase A family, 1 (pancreatic)
SEC24D SEC24 family member D
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SMAD4 SMAD family member 4
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNX22 sorting nexin 22
SOST sclerostin
SP7 Sp7 transcription factor
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SRSF2 serine/arginine-rich splicing factor 2
SUCO SUN domain containing ossification factor
TAPT1 transmembrane anterior posterior transformation 1
TLL1 tolloid-like 1
TMEM38B transmembrane protein 38B
TNC tenascin C
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNXB tenascin XB
TRAP triiodothyronine receptor auxiliary protein
TSC1 tuberous sclerosis 1
TSHR thyroid stimulating hormone receptor
TSPO translocator protein (18kDa)
WNT1 wingless-type MMTV integration site family, member 1
WWTR1 WW domain containing transcription regulator 1