|
1861
|
|
|
Gap junction protein beta 4 |
CX30.3, EKV, EKVP2 |
Alopecia, Brachydactyly, Cataract, Diabetes mellitus, Dwarfism, Erythrokeratodermia variabilis, Erythrokeratodermia variabilis et progressiva, Glaucoma, Hyperkeratosis, epidermolytic, Hypertrichosis, Mental retardation, Microcephaly, Palmoplantar keratoderma, Patchy palmoplantar keratoderma, Skin neoplasms |
|
1862
|
|
|
Collagen type I alpha 1 chain |
CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4 |
Aortic aneurysm, Aortic dissection, Aortic valve insufficiency, Aphasia, Arachnodactyly, Arthritis, Arthrochalasia ehlers-danlos syndrome, Asthma, Atrial septal defect, Atrophy, Autoimmune diseases, Autoimmune lymphoproliferative disorder, Avascular necrosis of the capital femoral epiphysis, Blood coagulation disorders, Breast cancer, Breast carcinoma, Caffey disease, Cardiac valvular disease, Cholangitis, Cholestasis, Cirrhosis, Classical-like ehlers-danlos syndrome, Congenital epicanthus, Congenital exomphalos, Congenital hip dislocation, Congenital keratoglobus, Congenital pectus carinatum, Congestive heart failure, Corneal dystrophy, Cortical congenital hyperostosis, Dentinogenesis imperfecta, Dermatofibrosarcoma protuberans, Developmental delay, Drachtman weinblatt sitarz syndrome, Dwarfism, Dysmorphic features, Dysphasia, Ectopia lentis, Eczema, Ehlers-danlos syndrome, Fibrosarcoma, Frontal bossing, Glaucoma, Hernia, femoral, Hiatal hernia, High bone mass osteogenesis imperfecta, Hydrops fetalis, Hypertension, Impaired cognition, Left ventricular hypertrophy, Legg-calve-perthes disease, Liver cirrhosis, Liver fibrosis, Lobstein disease, Maternal hypertension, Microcornea, Microdontia, Micrognathism, Migraine, Miscarriage, Mitral valve prolapse, Myopia, Nasopharyngeal carcinoma, Nephrogenic fibrosing dermopathy, Nephrosclerosis, Nephrotic syndrome, Oral submucous fibrosis, Osteogenesis imperfecta, Osteogenesis imperfecta-ehlers-danlos combined syndrome, Osteopenia, Osteoporosis, Otosclerosis, Platybasia, Postnatal asphyxia, Premature osteoarthritis, Proptosis, Pulmonary arterial hypertension, Retinal detachment, Rhizomelia, Scoliosis, Shagreen patch, Skeletal dysplasia, Skin neoplasms, Spina bifida occulta, Thoracic aortic aneurysm and aortic dissection, Tricuspid valve prolapse, Tumoral calcinosis, Urticaria, Venous insufficiencyView all (74 more) |
|
1863
|
|
|
Organic solute carrier partner 1 |
C1orf102, NOR1 |
|
|
1864
|
|
|
Kelch domain containing 7A |
- |
|
|
1865
|
|
|
Chromosome 1 open reading frame 87 |
CREF |
|
|
1866
|
|
|
Collagen type I alpha 2 chain |
EDSARTH2, EDSCV, OI4 |
Aortic valve insufficiency, Aphasia, Arthritis, Arthrochalasia ehlers-danlos syndrome, Avascular necrosis of the capital femoral epiphysis, Cardiac valvular disease, Cardiacvalvular ehlers-danlos syndrome, Cirrhosis, Congenital epicanthus, Congenital genu recurvatum, Congenital pectus excavatum, Congestive heart failure, Dentinogenesis imperfecta, Developmental delay, Diabetes mellitus, Drachtman weinblatt sitarz syndrome, Dwarfism, Dysmorphic features, Dysphasia, Ehlers-danlos syndrome, Classical-like ehlers-danlos syndrome, Ehlers-danlos/osteogenesis imperfecta crossover syndrome, Frontal bossing, Hernia, femoral, High bone mass osteogenesis imperfecta, Hydrops fetalis, Legg-calve-perthes disease, Liver cirrhosis, Liver fibrosis, Lobstein disease, Micrognathism, Miscarriage, Mitral valve prolapse, Multiple congenital anomalies, Oral submucous fibrosis, Osteoarthrosis deformans, Osteogenesis imperfecta, Osteopenia, Osteoporosis, Otosclerosis, Platybasia, Pulmonary arterial hypertension, Scleroderma, Scoliosis, Skeletal dysplasia, Thoracic aortic aneurysm and aortic dissectionView all (31 more) |
|
1867
|
|
|
Synaptotagmin 2 |
CMS7, CMS7A, CMS7B, MYSPC, SytII |
Acquired kyphoscoliosis, Arthrogryposis multiplex congenita, Bulbar palsy, Developmental dysplasia of the hip, Congenital kyphoscoliosis, Myasthenic syndrome, Congenital pectus carinatum, Distal amyotrophy, Dysphagia, Epilepsy, Esotropia, Gastroesophageal reflux disease, Hearing loss, High palate, Leukemia, Mental retardation, Motor delay, Myasthenia gravis, Nystagmus, Polyneuropathy, Ptosis, Sleep apnea, Sudden episodic apneaView all (8 more) |
|
1868
|
|
|
U2AF homology motif kinase 1 |
KIS, KIST, P-CIP2 |
|
|
1869
|
|
|
Collagen type II alpha 1 chain |
ACG2, ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED |
Abnormal spinal segmentation, Achondrogenesis, Acquired kyphoscoliosis, Allergic rhinitis, Anonychia, Arachnodactyly, Arthritis, Arthropathy, Aseptic necrosis, Asteroid hyalosis, Attention deficit hyperactivity disorder, Avascular necrosis of femoral head, Avascular necrosis of the capital femoral epiphysis, Brachydactyly, Cartilage diseases, Cataract, Cervical myelopathy, Chondrodystrophic myotonia, Chondromalacia, Chondrosarcoma, Clinodactyly, Congenital clubfoot, Congenital exomphalos, Congenital kyphoscoliosis, Congenital pectus carinatum, Congenital pectus excavatum, Connective tissue disease, Cystic hygroma, Czech dysplasia, Developmental delay, Disorder of eye, Dwarfism, Dyschondroplasias, Dysmorphic features, Dysspondyloenchondromatosis, Ectopia lentis, Enchondromatosis, Epidermolysis bullosa, Epiphyseal dysplasia, Epiphyseal dysplasia, multiple, with myopia and conductive deafness, Femur head necrosis, Frontal bossing, Glaucoma, Glossoptosis, Hearing loss, Hernia, femoral, Hip contracture, Hydrops fetalis, Hypochondrogenesis, Hypoplasia of the maxilla, Hypoplasia of thumb, Knee osteoarthritis, Kniest dysplasia, Legg-calve-perthes disease, Macrocephaly, Megaepiphyseal dwarfism, Melanoma, Melnick-needles syndrome, Mental retardation, Micrognathism, Micromelia, Microstomia, Mitral valve prolapse, Motor delay, Multiple congenital anomalies, Multiple epiphyseal dysplasia, Myopia, Namaqualand hip dysplasia, Neurosensory hearing impairment, Nystagmus, Osteoarthritis of hip, Osteoarthrosis deformans, Osteochondrodysplasia, Otitis media, Otospondylomegaepiphyseal dysplasia, Pierre-robin syndrome, Platyspondylic dysplasia, Polyarthritis, Postaxial hand polydactyly, Proptosis, Ptosis, Pulmonary hypoplasia, Pyle metaphyseal dysplasia, Retinal detachment, Retinal diseases, Retinal dysplasia, Retinal lattice degeneration, Retinal pigment epithelial detachment, Rhegmatogenous retinal detachment, Rheumatoid arthritis, Rhizomelia, Schmorl`s nodes, Schwartz-jampel syndrome, Scoliosis, Sensorineural hearing loss, Short femur, Skeletal dysplasia, Skin erosion, Sleep apnea, Spade-like hand, Spondyloenchondrodysplasia, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia with metatarsal shortening, Spondyloepiphyseal dysplasia with osteoarthritis, Spondylometaphyseal dysplasia, Spondyloperipheral dysplasia, Spondyloperipheral dysplasia-short ulna syndrome, Stickler syndrome, Strudwick syndrome, Submucous cleft of soft and hard palate, Synovial hypertrophy, Synovitis, Tetralogy of fallot, Tracheal stenosis, Tracheomalacia, Van buchem disease, Velopharyngeal insufficiency, Vitreoretinal degeneration, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Wagner syndromeView all (107 more) |
|
1870
|
|
|
Collagen type III alpha 1 chain |
EDS4A, EDSVASC, PMGEDSV |
Abdominal aortic aneurysm, Acrogeria, Acrosteolysis, Alcoholic liver cirrhosis, Alopecia, Alveolitis, Aortic aneurysm, Aortic dissection, Aortic valve insufficiency, Arthritis, Atherosclerosis, Bladder diverticulum, Cerebellar hypoplasia, Cerebral saccular aneurysm, Cholestasis, Cirrhosis, Colorectal cancer, Compensatory hyperinsulinemia, Congenital aneurysm of ascending aorta, Congenital camptodactyly, Congenital clubfoot, Congenital epicanthus, Congenital exomphalos, Congenital heart defects, Congenital pectus excavatum, Cryptorchidism, Cystocele, Developmental delay, Developmental dysplasia of the hip, Dwarfism, Ehlers-danlos syndrome, Encephalomalacia, Endogenous hyperinsulinism, Exogenous hyperinsulinism, Facioscapulohumeral muscular dystrophy, Fatty liver, Gingivitis, Glaucoma, Hypercholesterolemia, Hyperglycemia, Hyperinsulinism, Hyperopia, Hypertension, Hypospadias, Impaired cognition, Intracranial aneurysm, Ischemic stroke, Keratoconus, Left ventricular hypertrophy, Lipoatrophy, Lipodystrophy, Liver cirrhosis, Liver fibrosis, Loeys-dietz syndrome, Melanocytic nevus, Mental retardation, Microdontia, Micrognathism, Microstomia, Migraine, Mitral valve prolapse, Nephrosclerosis, Oculomotor nerve palsy, Osteochondrodysplasia, Perforation of colon, Periodontitis, Polymicrogyria, Proptosis, Ptosis, Pulmonary fibrosis, Schizophrenia, Scoliosis, Skeletal dysplasia, Sleep apnea, Spontaneous pneumothorax, Sprengel deformity, Stroke, Subarachnoid hemorrhage, Thoracic aortic aneurysm and aortic dissection, Transient ischemic attack, Vertebral artery dissection, Vulval varicesView all (67 more) |
