2791
|
|
|
Collagen type II alpha 1 chain |
ACG2, ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED |
Achondrogenesis, Arthritis, Rheumatoid arthritis, Osteonecrosis of the femoral head, Otospondylomegaepiphyseal dysplasia, Avascular necrosis of bone, Avascular necrosis of femoral head, Bipolar disorder, Bone resorption, Cartilage disease, Cataract, Chondrosarcoma, Cleft palate, Spondyloepiphyseal dysplasia, Collagenopathy, Congenital aneurysm of ascending aorta, Congenital cartilage disorder, Congenital hip dysplasia, Congenital heart defects, Connective tissue disease, Coronary artery disease, Coxa plana, Craniofacial abnormalities, Czech dysplasia, Desbuquois syndrome, Eye disorder, Dysspondyloenchondromatosis, Edema, Epiphyseal dysplasia, Hearing impairment, Hyperplasia, Lung cancer, Maffucci syndrome, Marfan syndrome, Marshall syndrome, Melanoma, Major depressive disorder, Micrognathism, Myopia, Optic atrophy, Orofacial cleft, Osteoarthritis, Osteochondrodysplasias, Osteonecrosis of medial femoral condyle, Prostate cancer, Retinal detachment, Retinitis pigmentosa, Rhegmatogenous retinal detachment, Schizophrenia, Scoliosis, Hearing loss, Spondyloepimetaphyseal dysplasia, Spondylometaphyseal dysplasia, Squamous cell carcinoma, Stargardt disease, Stickler syndrome, Synovitis, Diabetes mellitus type 2, VitreoretinopathyView all (44 more) |
2792
|
|
|
Collagen type III alpha 1 chain |
EDS4A, EDSVASC, PMGEDSV |
Aortic aneurysm, Aortic valve disease, Ehlers-danlos syndrome, Cholelithiasis, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly, Connective and soft tissue disorder, Connective tissue disease, Aortic dissection, Cerebral saccular aneurysm, Thoracic aortic aneurysm and aortic dissection, Fatty liver, Fatty liver, alcoholic, Hypercholesterolemia, Hyperglycemia, Hyperinsulinism, Hypertension, Hypertrophy, Kidney failure, Left ventricular disease, Liver cirrhosis, Liver disease, Loeys-dietz syndrome, Marfan syndrome, Kawasaki disease, Nephrosclerosis, Obesity, Parkinson disease, Polymicrogyria, Pulmonary fibrosis, Schizophrenia, Spastic paraplegia, Tetralogy of fallot, Urethral obstruction, Uterine fibroid, Vascular ehlers-danlos syndromeView all (21 more) |
2793
|
|
|
Collagen type IV alpha 1 chain |
BSVD, BSVD1, COL4A1s, PADMAL, RATOR |
Hemolytic anemia, Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps, Anterior segment mesenchymal dysgenesis, Familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Axenfeld-rieger syndrome, Brain small vessel disease, Congenital anomalies of the kidney and urinary tract, Carbohydrate metabolism disease, Cardiovascular disease, Cerebral hemorrhage, Cerebral palsy, Cerebral microangiopathy, Kidney disease, Cerebral small vessel disease, Vascular leukoencephalopathy, Colpocephaly, Congenital cataract, Congenital porencephaly, Coronary artery disease, Dementia, Vascular dementia, Diabetic neuropathy, Eye abnormalities, Retinal arterial tortuosity, Focal glomerulosclerosis, Heart failure, Intracerebral hemorrhage, Anterior segment dysgenesis, Keratoconus, Migraine, Myocardial infarction, Myocardial ischemia, Nephrotic syndrome, Obesity, Open angle glaucoma, Peripheral arterial disease, Posttraumatic porencephalic cyst of brain, Prion disease, Rieger syndrome, Schizencephaly, Stroke, Walker-warburg syndromeView all (27 more) |
2794
|
|
|
Collagen type IV alpha 2 chain |
BSVD2, ICH, POREN2 |
Androgenetic alopecia, Atherosclerosis, Neoplasms, Bipolar disorder, Brain small vessel disease, Cerebral hemorrhage, Cerebral palsy, Obstructive pulmonary disease, Cerebral small vessel disease, Vascular leukoencephalopathy, Colorectal adenoma, Colorectal cancer, Congenital porencephaly, Coronary artery disease, Vascular dementia, Heart disease, Heart failure, Intracerebral hemorrhage, Hypertension, Hypertrophic cardiomyopathy, Intellectual developmental disorder, Melanoma, Major depressive disorder, Myocardial infarction, Myocardial ischemia, Nephrotic syndrome, Otosclerosis, Posttraumatic porencephalic cyst of brain, Retinopathy, Schizophrenia, Small cell lung carcinoma, Small vessel stroke, Stroke, VasculitisView all (19 more) |
2795
|
|
|
Collagen type IV alpha 3 chain |
ATS2, ATS3, ATS3A, ATS3B, BFH2 |
Alport syndrome, Atrophic macular degeneration, Kidney disease, Collagen vi-related myopathy, Congenital hearing disorder, Dementia, Diabetic neuropathy, Digenic alport syndrome, Genetic steroid-resistant nephrotic syndrome, Hearing impairment, Hematuria, Hereditary steroid-resistant nephrotic syndrome, Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome, Keratoconus, Kidney failure, Nephrotic syndrome, Secondary malignant neoplasm, Steroid-resistant nephrotic syndrome, Stickler syndrome, Venous thromboembolism, Age-related macular degeneration, Alport syndrome, x-linkedView all (7 more) |
2796
|
|
|
Collagen type IV alpha 4 chain |
ATS2, BFH, BFH1, CA44 |
Alport syndrome, Alzheimer disease, Kidney disease, Collagen vi-related myopathy, Coronary artery disease, Diffuse mesangial sclerosis, Digenic alport syndrome, Focal glomerulosclerosis, Glomerulonephritis, Gout, Hearing impairment, Hematuria, Hypertension, Kidney failure, Meniere disease, Myocardial infarction, Myopia, Nephrotic syndrome, Polycystic kidney disease, Retinopathy, Specific language disorder, Steroid-resistant nephrotic syndrome, Thrombocytopenia, Usher syndrome, Age-related macular degeneration, Alport syndrome, x-linkedView all (11 more) |
2797
|
|
|
Collagen type IV alpha 5 chain |
ASLN, ATS, ATS1, CA54 |
22q13.3 deletion syndrome, Alport syndrome, Hemolytic uremic syndrome, Kidney disease, Collagen vi-related myopathy, Digenic alport syndrome, Focal glomerulosclerosis, Hearing impairment, Hematuria, Hypertension, Leiomyoma, Nephrotic syndrome, Non-melanoma skin carcinoma, Steroid-resistant nephrotic syndrome, Hearing loss, Alport syndrome, x-linked, X-linked diffuse leiomyomatosis with alport syndromeView all (2 more) |
2798
|
|
|
Collagen type IV alpha 6 chain |
CXDELq22.3, DELXq22.3, DFNX6 |
|
2799
|
|
|
Collagen type V alpha 1 chain |
EDSC, EDSCL1, FMDMF |
Alzheimer disease, Aortic valve disease, Brugada syndrome, Carcinoma, Cardiac arrhythmia, Cataract, Ehlers-danlos syndrome, Colonic neoplasms, Colorectal cancer, Congenital venous anomaly, Congenital clubfoot, Connective tissue disease, Corneal disease, Corneal dystrophy, Crohn disease, Cutis laxa, Eye disease, Thoracic aortic aneurysm and aortic dissection, Keratoconus, Loeys-dietz syndrome, Marfan syndrome, Mitral valve prolapse, Neuropathic spinal arthropathy, Pelvic organ prolapse, Prostate cancer, Prostatic neoplasms, Rupture, spontaneous, Scoliosis, Skeletal dysplasia, Thrombocytopenia, Wolff-parkinson-white syndromeView all (16 more) |
2800
|
|
|
Collagen type V alpha 2 chain |
EDSC, EDSCL2 |
Breast cancer, Ehlers-danlos syndrome, Connective tissue disease, Thoracic aortic aneurysm and aortic dissection, Hemorrhoid, Keratoconus, Liver cirrhosis, Loeys-dietz syndrome, Marfan syndrome, Neuropathic spinal arthropathy, Osteoarthritis, Osteogenesis imperfecta, Parkinson disease, Thrombocytopenia |
