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Homo sapiens

13 genes annotated in human

osteogenesis imperfecta

DOID:12347

An osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue.

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Known genes in the process in human Include functional analogs

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Gene Predictions

Click on a gene's description to view its network relationships with genes known to be involved in "osteogenesis imperfecta"

Show only novel predictions Show only unknown genes Highlight genes with functional analogs involved in "osteogenesis imperfecta" (in gray)

Name	Description	Probability	Func Analog Organism
COL1A1	collagen, type I, alpha 1	0.997
COL3A1	collagen, type III, alpha 1	0.870	Human
PDIA4	protein disulfide isomerase family A, member 4	0.811
COL6A2	collagen, type VI, alpha 2	0.635
P4HB	prolyl 4-hydroxylase, beta polypeptide	0.599
COL4A1	collagen, type IV, alpha 1	0.573
PLOD1	procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1	0.452
CHRD	chordin	0.391
SPARC	secreted protein, acidic, cysteine-rich (osteonectin)	0.356
RPN1	ribophorin I	0.354
DDOST	dolichyl-diphosphooligosaccharide--protein glycosyltransferase	0.343
COL6A1	collagen, type VI, alpha 1	0.324
PDIA3	protein disulfide isomerase family A, member 3	0.275
COL5A1	collagen, type V, alpha 1	0.254	Human
HSPA5	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	0.181
MFAP2	microfibrillar-associated protein 2	0.176
LOX	lysyl oxidase	0.157
CRELD2	cysteine-rich with EGF-like domains 2	0.152
MMP2	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	0.133
LEPRE1	leucine proline-enriched proteoglycan (leprecan) 1	0.120
RCN3	reticulocalbin 3, EF-hand calcium binding domain	0.120
MMP14	matrix metallopeptidase 14 (membrane-inserted)	0.117
COL1A2	collagen, type I, alpha 2	0.114
COL7A1	collagen, type VII, alpha 1	0.108
IGFBP3	insulin-like growth factor binding protein 3	0.101
PCOLCE	procollagen C-endopeptidase enhancer	0.097
FKBP10	FK506 binding protein 10, 65 kDa	0.094
CALR	calreticulin	0.086
SERPINH1	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	0.085
C19orf10	chromosome 19 open reading frame 10	0.077
MRC2	mannose receptor, C type 2	0.070
ERO1L	ERO1-like (S. cerevisiae)	0.065
NID2	nidogen 2 (osteonidogen)	0.063
BGN	biglycan	0.054
PDIA5	protein disulfide isomerase family A, member 5	0.052
EFEMP2	EGF containing fibulin-like extracellular matrix protein 2	0.052
SDF2L1	stromal cell-derived factor 2-like 1	0.051
VKORC1	vitamin K epoxide reductase complex, subunit 1	0.050
EHD2	EH-domain containing 2	0.048
SSR4	signal sequence receptor, delta (translocon-associated protein delta)	0.048
PLXND1	plexin D1	0.042
TMED9	transmembrane emp24 protein transport domain containing 9	0.041
FKBP2	FK506 binding protein 2, 13kDa	0.039
TSPAN4	tetraspanin 4	0.034
GLT25D1	glycosyltransferase 25 domain containing 1	0.034
KDELR3	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	0.034
SSR2	signal sequence receptor, beta (translocon-associated protein beta)	0.033
PXDN	peroxidasin homolog (Drosophila)	0.033
FBN1	fibrillin 1	0.029
HSPG2	heparan sulfate proteoglycan 2	0.029
LEPREL4	leprecan-like 4	0.028
C2orf18	chromosome 2 open reading frame 18	0.025
PLOD3	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	0.024
HM13	histocompatibility (minor) 13	0.024
COL18A1	collagen, type XVIII, alpha 1	0.023
COL4A2	collagen, type IV, alpha 2	0.022
ADAMTS2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	0.022
LGALS1	lectin, galactoside-binding, soluble, 1	0.020
FBLN2	fibulin 2	0.020
NID1	nidogen 1	0.020
MXRA8	matrix-remodelling associated 8	0.019
THY1	Thy-1 cell surface antigen	0.019
ADAM12	ADAM metallopeptidase domain 12	0.018
CKAP4	cytoskeleton-associated protein 4	0.018
LAMB2	laminin, beta 2 (laminin S)	0.017
TMED3	transmembrane emp24 protein transport domain containing 3	0.017
RPN2	ribophorin II	0.016
LOXL1	lysyl oxidase-like 1	0.016
POSTN	periostin, osteoblast specific factor	0.015
COL6A3	collagen, type VI, alpha 3	0.015
ECE1	endothelin converting enzyme 1	0.014
PDGFRB	platelet-derived growth factor receptor, beta polypeptide	0.014
EMILIN1	elastin microfibril interfacer 1	0.014
CD63	CD63 molecule	0.014
GANAB	glucosidase, alpha; neutral AB	0.014
WISP1	WNT1 inducible signaling pathway protein 1	0.014
COPG	coatomer protein complex, subunit gamma	0.013
FN1	fibronectin 1	0.013
FNDC1	fibronectin type III domain containing 1	0.013
BMP1	bone morphogenetic protein 1	0.013
RRBP1	ribosome binding protein 1 homolog 180kDa (dog)	0.013
FKBP11	FK506 binding protein 11, 19 kDa	0.012
PLTP	phospholipid transfer protein	0.012
TIMP2	TIMP metallopeptidase inhibitor 2	0.012
GLT8D2	glycosyltransferase 8 domain containing 2	0.011
ERO1LB	ERO1-like beta (S. cerevisiae)	0.011
C11orf24	chromosome 11 open reading frame 24	0.011
TNC	tenascin C	0.011
OLFML2B	olfactomedin-like 2B	0.011
ECM1	extracellular matrix protein 1	0.011
FAP	fibroblast activation protein, alpha	0.010
COL8A2	collagen, type VIII, alpha 2	0.010
SERPINF1	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	0.006
SP7	Sp7 transcription factor	0.002
CRTAP	cartilage associated protein	0.002
PPIB	peptidylprolyl isomerase B (cyclophilin B)	0.001
WNT1	wingless-type MMTV integration site family, member 1	0.001
TMEM38B	transmembrane protein 38B	0.000
IFITM5	interferon induced transmembrane protein 5	0.000