From: The role of structural genes in the pathogenesis of osteoarthritic disorders
OMIM# | Gene name | Gene symbol | Diseases and disorders |
---|---|---|---|
12140 | Collagen, type II α1 | COL2A1 | Achondrogenesis, type II |
Achondrogenesis-hypochondrogenesis, type II | |||
Epiphyseal dysplasia, multiple, with myopia and conductive deafness | |||
Hypochondrogenesis | |||
Kniest dysplasia | |||
Osteoarthritis with mild dysplasia | |||
Spondyloepiphyseal dysplasia, congenital type | |||
Spondyloepiphyseal dysplasia, Namaqualand type | |||
Spondyloepiphyseal dysplasia, Strudwick type | |||
Spondyloepiphyseal dysplasia, various types | |||
Spondyloepiphyseal dysplasia with precocious OA | |||
Spondyloperipheral dysplasia | |||
Stickler syndrome, type I | |||
Wagner syndrome | |||
120180 | Collagen, type III α1 | COL3A1 | Arterial and aortic aneurysm |
Ehlers–Danlos syndrome, types III and IV | |||
120220 | Collagen, type VI α1 | COL6A1 | Bethlem myopathy |
120240 | Collagen, type VI α2 | COL6A2 | Bethlem myopathy |
Ullrich scleroatonic muscular dystrophy | |||
120250 | Collagen, type VI α3 | COL6A3 | Bethlem myopathy |
120210 | Collagen, type IX α1 | COL9A1 | Epiphyseal dysplasia, multiple, type 1 |
Intervertebral disk disease | |||
120260 | Collagen, type IX α2 | COL9A2 | Epiphyseal dysplasia, multiple, type 2 |
Intervertebral disk disease | |||
120270 | Collagen, type IX α3 | COL9A3 | Epiphyseal dysplasia, multiple, type 3 |
Epiphyseal dysplasia, multiple, with myopathy | |||
120110 | Collagen, type X α1 | COL10A1 | Metaphyseal chondrodysplasia, Schmid type |
Spondylometaphyseal dysplasia, Japanese type | |||
120260 | Collagen, type XI α1 | COL11A1 | Stickler syndrome, type II |
Marshall syndrome | |||
120290 | Collagen, type XI α2 | COL11A2 | Sensorineural deafness, autosomal dominant nonsyndromic |
Otospondylomegaepiphyseal dysplasia | |||
Stickler syndrome, type III | |||
Weissenbacher–Zweymuller syndrome | |||
600310 | Cartilage oligomeric matrix protein | COMP | Pseudoachondroplasia |
Epiphyseal dysplasia, multiple, Fairbanks type | |||
Epiphyseal dysplasia, multiple, type 1 | |||
602109 | Matrilin-3 | MATN3 | Multiple epiphyseal dysplasia, MATN3-related |
Epiphyseal dysplasia, multiple, type 5 | |||
134797 | Fibrillin | FBN1 | Marfan syndrome, various type |
Ectopia lentis, familial | |||
Marfanoid skeletal syndrome | |||
MASS syndrome | |||
Shprintzen–Goldberg syndrome | |||
154870 | Matrix γ-carboxyglutamic acid protein | MGP | Keutel syndrome |
142461 | Perlecan | PLC | Schwartz–Jampel syndrome, type 1 |
Dyssegmental dysplasia, Silverman–Handmaker type | |||
Chondrodystrophic myotonia | |||
222600 | Diastrophic dysplasia sulfate transporter | DTDST | Achondrogenesis IB |
Atelostogenesis type II | |||
Diastrophic dysplasia | |||
Epiphyseal dysplasia, multiple type 4 | |||
Diastrophic dysplasia, broad-bone–platyspondylic variant | |||
604283 | Proteoglycan 4 | PRG4 | Camptodactyly–arthropathy–coxa vara–pericarditis syndrome |
605145 | ANK | ANKH | Craniometaphyseal dysplasia, autosomal dominant |
Chondrocalcinosis 2 |