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) |