|
291
|
|
|
Contactin 1 |
CMYO12, CMYP12, F3, GP135, MYPCN |
Akinesia, Arachnodactyly, Colorectal cancer, Congenital camptodactyly, Congenital lethal myopathy, Dolichocephaly, High palate, Congenital myopathy, Hypotonia, Parkinson disease, Pena shokeir syndrome, Scaphocephaly |
|
292
|
|
|
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, Congenital hip dislocation, Congenital epicanthus, Congenital exomphalos, 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, Classical-like 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) |
|
293
|
|
|
Chromosome 1 open reading frame 87 |
CREF |
|
|
294
|
|
|
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) |
|
295
|
|
|
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, Short femur, Pulmonary hypoplasia, Congenital kyphoscoliosis, Congenital pectus carinatum, Congenital pectus excavatum, Connective tissue disease, 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, Neurosensory hearing impairment, Hearing loss, Hernia, femoral, Hip contracture, Hydrops fetalis, Hypochondrogenesis, Hypoplasia of the maxilla, Hypoplasia of thumb, Knee osteoarthritis, Kniest dysplasia, Legg-calve-perthes disease, Cystic hygroma, 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, Nystagmus, Osteoarthritis of hip, Osteoarthrosis deformans, Osteochondrodysplasia, Otitis media, Otospondylomegaepiphyseal dysplasia, Pierre-robin syndrome, Platyspondylic dysplasia, Polyarthritis, Proptosis, Ptosis, 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, Skeletal dysplasia, Skin erosion, Sleep apnea, Spade-like hand, Spondyloepiphyseal dysplasia congenita, Spondyloenchondrodysplasia, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia, 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, Postaxial hand polydactyly, Van buchem disease, Velopharyngeal insufficiency, Vitreoretinal degeneration, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Wagner syndromeView all (107 more) |
|
296
|
|
|
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, Developmental dysplasia of the hip, Congenital epicanthus, Congenital exomphalos, Congenital heart defects, Congenital pectus excavatum, Cryptorchidism, Cystocele, Developmental delay, 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) |
|
297
|
|
|
Collagen type IV alpha 1 chain |
BSVD, BSVD1, COL4A1s, PADMAL, RATOR |
Absence of septum pellucidum, Acquired porencephaly, Agenesis of corpus callosum, Anemia, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Arthritis, Axenfeld anomaly, Brain small vessel disease with axenfeld-rieger anomaly, Brain small vessel disease with or without ocular anomalies, Brain small vessel disease with hemorrhage, Cardiovascular diseases, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral microangiopathy, Cerebral palsy, Congenital cataract, Congenital coloboma of iris, Congenital hypoplasia of penis, Congenital porencephaly, Coronary artery disease, Cryptorchidism, Dandy-walker syndrome, Dementia, Developmental delay, Developmental porencephaly, Diabetic nephropathy, Disorder of eye, Dysmorphic features, Exotropia, Facial paralysis, Focal cortical dysplasia, Glaucoma, Glomerular hyalinosis, Glomerulosclerosis, Hanac syndrome, Heart failure, Hydrocephalus, Hypertension, Hypoplasia of the optic nerve, Hypothyroidism, Impaired cognition, Ischemic stroke, Kidney disease, Leukodystrophy, Leukoencephalopathy, Leukoencephalopathy with vanishing white matter, Macrocephaly, Mental depression, Mental retardation, Microangiopathic hemolytic anemia, Microcephaly, Microcornea, Microphthalmos, Migraine, Movement disorders, Multiple renal cysts, Muscular dystrophy, Myopathy, Myopia, Nephrotic syndrome, Optic atrophy, Pachygyria, Polymicrogyria, Pontine microangiopathy with leukoencephalopathy, Porencephalic cyst, Porencephaly, Posteriorly rotated ear, Raynaud phenomenon, Renal cyst, Renal insufficiency, Retinal arterial tortuosity, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Rheumatoid arthritis, Rieger syndrome, Schizencephaly, Sleep apnea, Specific learning disorder, Stroke, Submucosal cleft palate, Syndromic microphthalmia, Thoracic aortic aneurysm and aortic dissection, Vascular diseases, Vascular leukoencephalopathy, Walker-warburg congenital muscular dystrophy, Walker-warburg syndromeView all (73 more) |
|
298
|
|
|
Collagen type IV alpha 2 chain |
BSVD2, ICH, POREN2 |
Acquired porencephaly, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Arthritis, Autism, Colonic neoplasms, Colorectal adenoma, Colorectal cancer, Colorectal neoplasms, Congenital porencephaly, Coronary artery disease, Coronary heart disease, Developmental delay, Developmental porencephaly, Hypoplasia of the optic nerve, Leukemia, Lung carcinoma, Miosis disorder, Myocardial infarction, Nephrotic syndrome, Pituitary diseases, Porencephalic cyst, PorencephalyView all (7 more) |
|
299
|
|
|
Collagen type IV alpha 3 chain |
ATS2, ATS3, ATS3A, ATS3B, BFH2 |
Alport syndrome, Alport syndrome, x-linked, Azotemia, Benign hematuria, Cataract, Corneal erosion, Exudative macular degeneration, Genetic steroid-resistant nephrotic syndrome, Geographic atrophy, Glomerulonephritis, Hearing loss, Hematuria, Hereditary nephritis, Hypertension, Hypertensive nephropathy, Kidney disease, Lenticonus, Leukemia, Age-related macular degeneration, Myopia, Nephritis, Nephrocalcinosis, Nephrotic syndrome, Renal glomerular disease, Renal insufficiency, Thin basement membrane diseaseView all (11 more) |
|
300
|
|
|
Collagen type IV alpha 4 chain |
ATS2, BFH, BFH1, CA44 |
Alport syndrome, Alport syndrome, x-linked, Alzheimer disease, Benign hematuria, Cataract, Corneal erosion, Hematuria, Hypertension, Hypertensive nephropathy, Kidney disease, Lenticonus, Myopia, Nephritis, Nephrotic syndrome, Renal glomerular disease, Renal insufficiency, Thin basement membrane diseaseView all (2 more) |
