Process View
0 genes annotated in mouse
DOID:12347
An osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue.
In addition to gene-name show these genes:
Disease predictions are made from cross-annotation of human disease genes to the identified functional analogs in mouse and predicted with the mouse functional network.
Name | Description | Probability | Func Analog Organism | |
---|---|---|---|---|
Bgn | biglycan | 0.583 | ||
Sparc | secreted acidic cysteine rich glycoprotein | 0.521 | ||
Col5a1 | collagen, type V, alpha 1 | 0.470 | ||
Fstl1 | follistatin-like 1 | 0.342 | ||
Col3a1 | collagen, type III, alpha 1 | 0.212 | ||
Col1a1 | collagen, type I, alpha 1 | 0.176 | Human | |
Col1a2 | collagen, type I, alpha 2 | 0.157 | Human | |
Col5a2 | collagen, type V, alpha 2 | 0.153 | ||
Col6a2 | collagen, type VI, alpha 2 | 0.147 | ||
Mmp14 | matrix metallopeptidase 14 (membrane-inserted) | 0.122 | ||
Serpinh1 | serine (or cysteine) peptidase inhibitor, clade H, member 1 | 0.115 | Human | |
Fbn1 | fibrillin 1 | 0.106 | ||
Txndc5 | thioredoxin domain containing 5 | 0.086 | ||
Trp53 | transformation related protein 53 | 0.080 | ||
Cd248 | CD248 antigen, endosialin | 0.073 | ||
Hspg2 | perlecan (heparan sulfate proteoglycan 2) | 0.070 | ||
Dap | death-associated protein | 0.068 | ||
Emilin1 | elastin microfibril interfacer 1 | 0.067 | ||
Col6a1 | collagen, type VI, alpha 1 | 0.060 | ||
Surf4 | surfeit gene 4 | 0.055 | ||
Mmp2 | matrix metallopeptidase 2 | 0.052 | ||
Col6a3 | collagen, type VI, alpha 3 | 0.051 | ||
Fkbp10 | FK506 binding protein 10 | 0.045 | ||
Col4a2 | collagen, type IV, alpha 2 | 0.038 | ||
Nucb1 | nucleobindin 1 | 0.038 | ||
Col4a1 | collagen, type IV, alpha 1 | 0.035 | ||
Ilk | integrin linked kinase | 0.034 | ||
Kdelr3 | KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 | 0.034 | ||
Rcn3 | reticulocalbin 3, EF-hand calcium binding domain | 0.034 | ||
Sec31a | Sec31 homolog A (S. cerevisiae) | 0.033 | ||
Lmna | lamin A | 0.033 | ||
Plod3 | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 | 0.032 | ||
Prkcsh | protein kinase C substrate 80K-H | 0.029 | ||
Sox9 | SRY-box containing gene 9 | 0.029 | ||
Leprel2 | leprecan-like 2 | 0.027 | ||
Slc12a4 | solute carrier family 12, member 4 | 0.027 | ||
Col18a1 | collagen, type XVIII, alpha 1 | 0.027 | ||
Tnfrsf1a | tumor necrosis factor receptor superfamily, member 1a | 0.026 | ||
Kdelr1 | KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 | 0.026 | ||
Igf1 | insulin-like growth factor 1 | 0.026 | ||
Il10 | interleukin 10 | 0.025 | ||
Krtcap2 | keratinocyte associated protein 2 | 0.024 | ||
Sepn1 | selenoprotein N, 1 | 0.024 | ||
Bmp1 | bone morphogenetic protein 1 | 0.021 | Human | |
Loxl1 | lysyl oxidase-like 1 | 0.021 | ||
Copz2 | coatomer protein complex, subunit zeta 2 | 0.020 | ||
Vkorc1 | vitamin K epoxide reductase complex, subunit 1 | 0.019 | ||
Ckap4 | cytoskeleton-associated protein 4 | 0.019 | ||
Smo | smoothened homolog (Drosophila) | 0.019 | ||
Pax3 | paired box gene 3 | 0.019 | ||
Ephb4 | Eph receptor B4 | 0.018 | ||
Ltbr | lymphotoxin B receptor | 0.018 | ||
Fn1 | fibronectin 1 | 0.017 | ||
Wnt3a | wingless-related MMTV integration site 3A | 0.016 | ||
Tgfb1 | transforming growth factor, beta 1 | 0.015 | ||
Igfbp4 | insulin-like growth factor binding protein 4 | 0.015 | ||
Col2a1 | collagen, type II, alpha 1 | 0.014 | ||
Yif1a | Yip1 interacting factor homolog A (S. cerevisiae) | 0.014 | ||
Galk1 | galactokinase 1 | 0.014 | ||
Adam12 | a disintegrin and metallopeptidase domain 12 (meltrin alpha) | 0.014 | ||
Slc39a7 | solute carrier family 39 (zinc transporter), member 7 | 0.013 | ||
Crtap | cartilage associated protein | 0.013 | Human | |
Efemp2 | epidermal growth factor-containing fibulin-like extracellular matrix protein 2 | 0.013 | ||
Tmed3 | transmembrane emp24 domain containing 3 | 0.013 | ||
Glt25d1 | glycosyltransferase 25 domain containing 1 | 0.012 | ||
Slc4a2 | solute carrier family 4 (anion exchanger), member 2 | 0.012 | ||
Pcolce | procollagen C-endopeptidase enhancer protein | 0.012 | ||
Col15a1 | collagen, type XV, alpha 1 | 0.012 | ||
Creb3l1 | cAMP responsive element binding protein 3-like 1 | 0.012 | ||
Gpx7 | glutathione peroxidase 7 | 0.011 | ||
Hic1 | hypermethylated in cancer 1 | 0.011 | ||
Sec61a1 | Sec61 alpha 1 subunit (S. cerevisiae) | 0.011 | ||
Kdelr2 | KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 | 0.011 | ||
Pparg | peroxisome proliferator activated receptor gamma | 0.011 | ||
Flnc | filamin C, gamma | 0.011 | ||
Cyb5r3 | cytochrome b5 reductase 3 | 0.010 | ||
Adamts2 | a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2 | 0.010 | ||
Kcnj6 | potassium inwardly-rectifying channel, subfamily J, member 6 | 0.010 | ||
Pdia5 | protein disulfide isomerase associated 5 | 0.010 |