|
1911
|
|
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Transmembrane protein 18 |
lncND |
|
|
1912
|
|
|
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) |
|
1913
|
|
|
Bardet-Biedl syndrome 5 |
- |
Bardet-biedl syndrome, Brachydactyly, Ciliopathies, Cone dystrophy, Hypoplasia of the ovary, Congenital hypoplasia of penis, Cryptorchidism, Diastrophic dysplasia, Disorder of eye, Dwarfism, Hypertension, Hypogonadism, Impaired cognition, Keratosis follicularis, Liver fibrosis, Age-related macular degeneration, Mental retardation, Multicystic renal dysplasia, Nephrotic syndrome, Nystagmus, Obesity, Polydactyly, Retinitis pigmentosa, Rod-cone dystrophy, Speech disorders, Syndactyly, Syndactyly of fingers, Postaxial hand polydactylyView all (13 more) |
|
1914
|
|
|
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) |
|
1915
|
|
|
Collagen type X alpha 1 chain |
- |
|
|
1916
|
|
|
Aminocarboxymuconate semialdehyde decarboxylase |
- |
|
|
1917
|
|
|
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) |
|
1918
|
|
|
Regenerating family member 3 gamma |
LPPM429, PAP IB, PAP-1B, PAP1B, PAPIB, REG III, REG-III, UNQ429 |
|
|
1919
|
|
|
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) |
|
1920
|
|
|
Pleckstrin homology, MyTH4 and FERM domain containing H2 |
PLEKHH1L |
|
