|
311
|
|
|
Collagen type VIII alpha 1 chain |
C3orf7 |
|
|
312
|
|
|
Collagen type VIII alpha 2 chain |
FECD, FECD1, PPCD, PPCD2 |
|
|
313
|
|
|
Contactin associated protein family member 5 |
caspr5 |
|
|
314
|
|
|
Collagen type IX alpha 1 chain |
DJ149L1.1.2, EDM6, MED, STL4 |
Arthritis, Astigmatism, Cataract, Chondrodystrophic myotonia, Degenerative vitreoretinopathy, Disorder of eye, Dwarfism, Dyschondroplasias, Epiphyseal dysplasia, Hearing loss, Melnick-needles syndrome, Micrognathism, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteochondrodysplasia, Retinal detachment, Retinal diseases, Schmorl`s nodes, Schwartz-jampel syndrome, Spondyloenchondrodysplasia, Spondyloepiphyseal dysplasia, Stickler syndrome, Thoracic aortic aneurysm and aortic dissection, Van buchem disease, Vitreoretinal degenerationView all (11 more) |
|
315
|
|
|
Collagen type IX alpha 2 chain |
DJ39G22.4, EDM2, MED, STL5 |
Arthritis, Astigmatism, Cataract, Connective tissue disease, Disorder of eye, Dwarfism, Epiphyseal dysplasia, Hearing loss, Intervertebral disc disorder, Knee osteoarthritis, Micrognathism, Micromelia, Miscarriage, Multiple epiphyseal dysplasia, Myopia, Retinal detachment, Stickler syndrome, Thoracic aortic aneurysm and aortic dissection, Vitreoretinal degenerationView all (4 more) |
|
316
|
|
|
Collagen type IX alpha 3 chain |
DJ885L7.4.1, EDM3, IDD, MED, STL6 |
Arthritis, Astigmatism, Cataract, Connective tissue disease, Dwarfism, Epiphyseal dysplasia, Hearing loss, Intervertebral disc disorder, Lumbar disc disease, Micrognathism, Micromelia, Multiple epiphyseal dysplasia, Multiple epiphyseal dysplasia with myopathy, Myopia, Retinal detachment, Stickler syndrome, Vitreoretinal degenerationView all (2 more) |
|
317
|
|
|
Collagen type X alpha 1 chain |
- |
|
|
318
|
|
|
Collagen type XI alpha 1 chain |
CO11A1, COLL6, DFNA37, STL2 |
Achromatopsia, Angle closure glaucoma, Arachnodactyly, Arthritis, Arthropathy, Astigmatism, Autism, Brachycephaly, Brachydactyly, Breast cancer, Calcification of falx cerebri, Camptodactyly of fingers, Cataract, Chondrodystrophic myotonia, Congenital camptodactyly, Congenital epicanthus, Short femur, Congenital keratoglobus, Congenital omphalocele, Connective tissue disease, Corpus luteum cyst, Cutis verticis gyrata, Disorder of eye, Dwarfism, Dyschondroplasias, Dysmorphic features, Ectopia lentis, Epiphyseal dysplasia, Esotropia, Fibrochondrogenesis, Frontal bossing, Glaucoma, Glossoptosis, Hearing loss, High palate, Hydrops fetalis, Hypohidrosis, Hypoplasia of the maxilla, Hypotrichosis, Intervertebral disc disorder, Intervertebral disk displacement, Knee osteoarthritis, Lumbar disc disease, Lymphoblastic leukemia, Marshall syndrome, Melnick-needles syndrome, Micrognathism, Micromelia, Microstomia, Multiple congenital anomalies, Multiple epiphyseal dysplasia, Myopia, Myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome, Nystagmus, Osteoarthritis of hip, Osteochondrodysplasia, Ovarian cysts, Patent foramen ovale, Pierre-robin syndrome, Plagiocephaly, Proptosis, Retinal detachment, Retinal diseases, Retinitis pigmentosa, Rhizomelia, Schwartz-jampel syndrome, Spondyloenchondrodysplasia, Spondyloepiphyseal dysplasia, Stickler syndrome, Strabismus, Thoracic aortic aneurysm and aortic dissection, Thoracic hypoplasia, Uranostaphyloschisis, Van buchem disease, Vitreoretinal degenerationView all (60 more) |
|
319
|
|
|
Collagen type XI alpha 2 chain |
DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3 |
Arthritis, Attention deficit hyperactivity disorder, Brachydactyly, Cartilage diseases, Chondromalacia, Congenital anomaly of limb, Short femur, Congenital omphalocele, Congenital pectus carinatum, Congenital pectus excavatum, Connective tissue disease, Coronary heart disease, Deafness, Developmental delay, Disorder of eye, Dwarfism, Dysmorphic features, Epiphyseal dysplasia, Fibrochondrogenesis, Glossoptosis, Neurosensory hearing impairment, Hearing loss, Hodgkin disease, Megaepiphyseal dwarfism, Micrognathism, Micromelia, Microstomia, Multiple congenital anomalies, Myopia, Non-syndromic sensorineural deafness, Nonsyndromic deafness, Otospondylomegaepiphyseal dysplasia, Pierre-robin syndrome, Plagiocephaly, Premature osteoarthritis, Proptosis, Rheumatoid arthritis, Rhizomelia, Stickler syndrome, Strabismus, Submucous cleft of soft and hard palate, Thoracic hypoplasia, Ventricular septal defectView all (28 more) |
|
320
|
|
|
Collagen type XII alpha 1 chain |
BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2 |
Acquired kyphoscoliosis, Alzheimer disease, Amyotrophy, Bethlem myopathy, Congenital kyphoscoliosis, Congenital muscular dystrophy, Elbow flexion contracture, Endometriosis, Esotropia, Facial paralysis, High palate, Malignant mesothelioma, Microcephaly, epilepsy, and diabetes syndrome, Micrognathism, Motor delay, Muscular dystrophy, Myopathic ehlers-danlos syndrome, Myopathy, Hypotonia, Phrynoderma, Respiratory failure, Scoliosis, Ullrich congenital muscular dystrophyView all (8 more) |
