Table 4 Human disease genes
GeneHuman Disease
col1a1Caffey disease
Ehlers-Danlos syndrome, classic and type VIIA
Osteogenesis imperfecta, type I, type II, type III, type IV
col1a2Ehlers-Danlos syndrome, cardiac valvular form and type VIIB
Osteogenesis imperfecta, type II, type III, type IV
col2a1Achondrogenesis, 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
cx43Atrioventricular 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
dll4Adams-Oliver syndrome 6
edarEctodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
kcnj13/kir7.1Leber congenital amaurosis 16
Snowflake vitreoretinal degeneration
cx41.8/GJA5Atrial fibrillation, familial, 11
Atrial standstill, digenic (GJA5/SCN5A)