| col1a1 | Caffey disease |
| Ehlers-Danlos syndrome, classic and type VIIA |
| Osteogenesis imperfecta, type I, type II, type III, type IV |
| col1a2 | Ehlers-Danlos syndrome, cardiac valvular form and type VIIB |
| Osteogenesis imperfecta, type II, type III, type IV |
| col2a1 | Achondrogenesis, type II or hypochondrogenesis |
| Avascular necrosis of the femoral head |
| Czech dysplasia |
| Epiphyseal dysplasia, multiple, with myopia and deafness |
| Kniest dysplasia |
| Legg-Calve-Perthes disease |
| Osteoarthritis with mild chondrodysplasia |
| Otospondylomegaepiphyseal dysplasia |
| Platyspondylic skeletal dysplasia, Torrance type |
| SED congenita |
| SMED Strudwick type |
| Spondyloepiphyseal dysplasia, Stanescu type |
| Spondyloperipheral dysplasia |
| Stickler syndrome, type I, nonsyndromic ocular and type I |
| Vitreoretinopathy with phalangeal epiphyseal dysplasia |
| cx43 | Atrioventricular septal defect 3 |
| Craniometaphyseal dysplasia, autosomal recessive |
| Erythrokeratodermia variabilis et progressiva |
| Hypoplastic left heart syndrome 1 |
| Oculodentodigital dysplasia |
| Oculodentodigital dysplasia, autosomal recessive |
| Palmoplantar keratoderma with congenital alopecia |
| Syndactyly, type III |
| dll4 | Adams-Oliver syndrome 6 |
| edar | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
| kcnj13/kir7.1 | Leber congenital amaurosis 16 |
| Snowflake vitreoretinal degeneration |
| cx41.8/GJA5 | Atrial fibrillation, familial, 11 |
| Atrial standstill, digenic (GJA5/SCN5A) |