Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
      Disease Term Human Homologs Mouse Homologs Mouse Models Homology Source
     acheiropody LMBR1* Lmbr1* 1 model HomoloGene and HGNC
achondrogenesis type IA TRIP11* Trip11* 3 models HomoloGene and HGNC
achondrogenesis type II COL2A1* Col2a1* 1 model HomoloGene and HGNC
achondroplasia FGFR3* Fgfr3* 7 models HomoloGene and HGNC
acromesomelic dysplasia, Grebe type GDF5* Gdf5* 2 models HomoloGene and HGNC
acromesomelic dysplasia, Hunter-Thompson type GDF5* Gdf5* 1 model HomoloGene and HGNC
acromesomelic dysplasia, Maroteaux type NPR2* Npr2* 2 models HomoloGene and HGNC
campomelic dysplasia SOX9* Sox9* 8 models HomoloGene and HGNC
cleidocranial dysplasia RUNX2* Runx2* 4 models HomoloGene and HGNC
diastrophic dysplasia SLC26A2* Slc26a2* 1 model HomoloGene and HGNC
hypertrichotic osteochondrodysplasia Cantu type ABCC9* Abcc9* 2 models HomoloGene and HGNC
microcephalic osteodysplastic primordial dwarfism type II PCNT* Pcnt* 1 model HGNC
multiple epiphyseal dysplasia 5 MATN3* Matn3* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 1 COL1A1* Col1a1* 2 models HomoloGene and HGNC
osteogenesis imperfecta type 10 SERPINH1* Serpinh1* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 2 COL1A1* Col1a1* 2 models HomoloGene and HGNC
osteogenesis imperfecta type 3 COL1A2* Col1a2* 2 models HomoloGene and HGNC
osteogenesis imperfecta type 3 COL1A1* Col1a1* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 4 COL1A1* Col1a1* 3 models HomoloGene and HGNC
osteogenesis imperfecta type 6 SERPINF1* Serpinf1* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 7 CRTAP* Crtap* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 8 P3H1* P3h1* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 9 PPIB* Ppib* 2 models HomoloGene and HGNC
otospondylomegaepiphyseal dysplasia COL11A2* Col11a2* 1 model HomoloGene and HGNC
progressive pseudorheumatoid arthropathy of childhood CCN6* Ccn6* 3 models HomoloGene and HGNC
pseudoachondroplasia COMP* Comp* 3 models HomoloGene and HGNC
Schimke immuno-osseous dysplasia SMARCAL1* Smarcal1* 1 model HomoloGene and HGNC
Schmid metaphyseal chondrodysplasia COL10A1* Col10a1* 3 models HomoloGene and HGNC
schneckenbecken dysplasia SLC35D1* Slc35d1* 1 model HomoloGene and HGNC
Silverman-Handmaker type dyssegmental dysplasia HSPG2* Hspg2* 2 models HomoloGene and HGNC
Smith-McCort dysplasia DYM* Dym* 1 model HomoloGene and HGNC
spondyloepimetaphyseal dysplasia, Pakistani type PAPSS2* Papss2* 1 model HomoloGene and HGNC
spondyloepiphyseal dysplasia congenita COL2A1* Col2a1* 8 models HomoloGene and HGNC
thanatophoric dysplasia FGFR3* Fgfr3* 4 models HomoloGene and HGNC
     achondroplasia PTHLH Pthlh* 1 model HomoloGene and HGNC
achondroplasia NPR2 Npr2* 3 models HomoloGene and HGNC
achondroplasia SPRED2 Spred2* 1 model HomoloGene and HGNC
achondroplasia ACAN Acan* 1 model HGNC
cleidocranial dysplasia RNF146 Rnf146* 1 model HomoloGene and HGNC
cleidocranial dysplasia Ccd* 2 models
cleidocranial dysplasia CEBPB Cebpb* 1 model HomoloGene and HGNC
hypertrichotic osteochondrodysplasia Cantu type KCNJ8 Kcnj8* 1 model HomoloGene and HGNC
Leri-Weill dyschondrosteosis SHOX2 Shox2* 1 model HomoloGene and HGNC
multiple epiphyseal dysplasia COMP Comp* 1 model HomoloGene and HGNC
osteochondrodysplasia ATF2 Atf2* 1 model HomoloGene and HGNC
osteogenesis imperfecta SMPD3 Smpd3* 1 model HomoloGene and HGNC
osteogenesis imperfecta COL1A2 Col1a2* 5 models HomoloGene and HGNC
osteogenesis imperfecta COL1A1 Col1a1* 1 model HomoloGene and HGNC
osteogenesis imperfecta SMAD4 Smad4* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 2 SMPD3 Smpd3* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 3 SMPD3 Smpd3* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 5 SUCO Suco* 1 model HomoloGene and HGNC
spondyloepimetaphyseal dysplasia COL2A1 Col2a1* 2 models HomoloGene and HGNC
spondyloepiphyseal dysplasia congenita HAPLN1 Hapln1* 1 model HomoloGene and HGNC
thanatophoric dysplasia HSPG2 Hspg2* 1 model HomoloGene and HGNC
Weissenbacher-Zweymuller syndrome SOX11 Sox11* 1 model HomoloGene and HGNC
Weissenbacher-Zweymuller syndrome MAPK1 Mapk1* 1 model HomoloGene and HGNC
Weissenbacher-Zweymuller syndrome hpmd* 1 model
Weissenbacher-Zweymuller syndrome ACVR2A Acvr2a* 1 model HomoloGene and HGNC
     achondrogenesis type IB SLC26A2* Slc26a2   HomoloGene and HGNC
acrocapitofemoral dysplasia IHH* Ihh   HomoloGene and HGNC
acromicric dysplasia FBN1* Fbn1   HomoloGene and HGNC
anauxetic dysplasia 1 RMRP* Rmrp   HGNC
atelosteogenesis SLC26A2* Slc26a2   HomoloGene and HGNC
atelosteogenesis FLNB* Flnb   HomoloGene and HGNC
Boomerang dysplasia FLNB* Flnb   HomoloGene and HGNC
brachyolmia TRPV4* Trpv4   HomoloGene and HGNC
chondrodysplasia Blomstrand type PTH1R* Pth1r   HomoloGene and HGNC
Cole-Carpenter syndrome P4HB* P4hb   HomoloGene and HGNC
Cole-Carpenter syndrome SEC24D* Sec24d   HomoloGene and HGNC
Desbuquois dysplasia XYLT1* Xylt1   HomoloGene and HGNC
Desbuquois dysplasia CANT1* Cant1   HomoloGene and HGNC
Dyggve-Melchior-Clausen disease DYM* Dym   HomoloGene and HGNC
fibrochondrogenesis COL11A1* Col11a1   HomoloGene and HGNC
fibrochondrogenesis COL11A2* Col11a2   HomoloGene and HGNC
gnathodiaphyseal dysplasia ANO5* Ano5   HomoloGene and HGNC
hypochondroplasia FGFR3* Fgfr3   HomoloGene and HGNC
Jansen's metaphyseal chondrodysplasia PTH1R* Pth1r   HomoloGene and HGNC
Kniest dysplasia COL2A1* Col2a1   HomoloGene and HGNC
Leri-Weill dyschondrosteosis SHOX*   HomoloGene
metachondromatosis PTPN11* Ptpn11   HomoloGene and HGNC
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome RUNX2* Runx2   HomoloGene and HGNC
metatropic dysplasia TRPV4* Trpv4   HomoloGene and HGNC
microcephalic osteodysplastic primordial dwarfism type I RNU4ATAC*   HGNC
multiple epiphyseal dysplasia 1 COMP* Comp   HomoloGene and HGNC
multiple epiphyseal dysplasia 2 COL9A2* Col9a2   HomoloGene and HGNC
multiple epiphyseal dysplasia 3 COL9A3* Col9a3   HomoloGene and HGNC
multiple epiphyseal dysplasia 4 SLC26A2* Slc26a2   HomoloGene and HGNC
multiple epiphyseal dysplasia 6 COL9A1* Col9a1   HomoloGene and HGNC
multiple epiphyseal dysplasia 7 CANT1* Cant1   HomoloGene and HGNC
omodysplasia FZD2* Fzd2   HomoloGene and HGNC
omodysplasia GPC6* Gpc6   HomoloGene and HGNC
osteogenesis imperfecta type 11 FKBP10* Fkbp10   HomoloGene and HGNC
osteogenesis imperfecta type 12 SP7* Sp7   HomoloGene and HGNC
osteogenesis imperfecta type 13 BMP1* Bmp1   HomoloGene and HGNC
osteogenesis imperfecta type 14 TMEM38B* Tmem38b   HomoloGene and HGNC
osteogenesis imperfecta type 15 WNT1* Wnt1   HomoloGene and HGNC
osteogenesis imperfecta type 16 CREB3L1* Creb3l1   HomoloGene and HGNC
osteogenesis imperfecta type 17 SPARC* Sparc   HomoloGene and HGNC
osteogenesis imperfecta type 2 COL1A2* Col1a2   HomoloGene and HGNC
osteogenesis imperfecta type 4 COL1A2* Col1a2   HomoloGene and HGNC
osteogenesis imperfecta type 5 IFITM5* Ifitm5 1 "NOT" model HomoloGene and HGNC
osteoglophonic dysplasia FGFR1* Fgfr1   HomoloGene and HGNC
parastremmatic dwarfism TRPV4* Trpv4   HomoloGene and HGNC
pycnodysostosis CTSK* Ctsk   HomoloGene and HGNC
Smith-McCort dysplasia RAB33B* Rab33b   HomoloGene and HGNC
spondyloepimetaphyseal dysplasia, Genevieve-type NANS* Nans   HomoloGene and HGNC
spondyloepimetaphyseal dysplasia, Missouri type MMP13* Mmp13   HomoloGene and HGNC
spondyloepimetaphyseal dysplasia, Sponastrime type TONSL* Tonsl   HomoloGene and HGNC
spondyloepimetaphyseal dysplasia, Strudwick type COL2A1* Col2a1   HomoloGene and HGNC
spondyloepiphyseal dysplasia Maroteaux type TRPV4* Trpv4   HomoloGene and HGNC
spondyloepiphyseal dysplasia tarda TRAPPC2* Trappc2   HomoloGene and HGNC
spondyloepiphyseal dysplasia with congenital joint dislocations CHST3* Chst3   HomoloGene and HGNC
spondylometaphyseal dysplasia Kozlowski type TRPV4* Trpv4   HomoloGene and HGNC
Torrance type platyspondylic dysplasia COL2A1* Col2a1   HomoloGene and HGNC

 
Transgenes and other genome features developed in mice to model this disease.
     Disease Term Transgenes and Other Genome Features Mouse Models
  achondroplasia Tg(Col2a1-Fgfr3/GH)BDor 1 model
  osteogenesis imperfecta type 1 Tg(COL1A1)73Prc 1 model
  osteogenesis imperfecta type 5 Tg(Col1a1-Ifitm5*)1Brle 1 model
  pseudoachondroplasia Tg(Col2a1-rtTA,tetO-COMP*)2Jath 1 model
  spondyloepiphyseal dysplasia congenita Tg(Col2a1*R789C)#Waho 1 model