5591
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|
|
Collagen type XXIV alpha 1 chain |
- |
Curated: Androgenetic alopecia, Astrocytoma, Corneal disease, Corneal dystrophy, Coronary aneurysm, Dementia, Eye disease, Tourette syndrome, Glaucoma, Ocular hypertension, Open angle glaucoma, Scoliosis
Unreviewed: Obesity, Papillary thyroid cancer
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5592
|
|
|
Collagen type XXV alpha 1 chain |
AMY, CFEOM5, CLAC, CLAC-P, CLACP |
Curated: Alzheimer disease, Arthrogryposis, Arthrogryposis multiplex congenita, Clear cell renal cell carcinoma, Congenital fibrosis of extraocular muscles, Congenital ptosis, Dementia, Kidney cancer, Pericarditis, Respiratory system disease, Schizophrenia, Systemic lupus erythematosus
Unreviewed: Amyloidosis, Aniridia, Antisocial Personality Disorder, Blepharophimosis, Blepharospasm, Brachydactyly, Carcinogenesis, Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy, Congenital Camptodactyly, Congenital Clubfoot, Congenital Coloboma Of Iris, Congenital Hypoplasia Of Radius, Developmental Delay, Down Syndrome, Duane Retraction Syndrome, Ectopic kidney, Fibrosis Of Extraocular Muscles, Fundus Coloboma, Hearing Loss, Hypoplasia Of Optic Disc, Liver carcinoma, Liver neoplasms, Microcephaly, Microcornea, Micrognathism, Mouth disease, Neck Webbing, Nystagmus, Obesity, Oculomotor nerve palsy, Pancreatitis, Periodontitis, Phenylketonuria, Plagiocephaly, Polydactyly, Ptosis, Retinal coloboma, Senile Dementia, Senile Plaques, Spina bifida occulta, Stenosis Of External Auditory Canal, Strabismus
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5593
|
|
|
COL25A1 divergent transcript |
ZCCHC23 |
Curated: N/A
Unreviewed: N/A
|
5594
|
|
|
Collagen type XXVI alpha 1 chain |
EMI6, EMID2, EMU2, SH2B |
Curated: Color vision deficiency, Ear disease
Unreviewed: Asthma, Ataxia Telangiectasia, Cleft lip, Cleft palate, Leukemia, Nasal polyp, Nasal polyposis, Otofaciocervical syndrome
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5595
|
|
|
Collagen type XXVII alpha 1 chain |
STLS |
Curated: Desbuquois syndrome, Osteoarthritis, Tourette syndrome, Diabetes mellitus type 2, Steel syndrome
Unreviewed: Anophthalmia, Cartilage disease, Coloboma, Colorectal Cancer, Colorectal neoplasm, Dislocated radial head, Dwarfism, Dysmorphic Features, Eye abnormalities, Growth disorder, Hearing loss, Microphthalmos, Multiple Congenital Anomalies, Osteogenesis imperfecta, Progressive supranuclear palsy, Scoliosis, Steel Syndrome, Tourette Syndrome
|
5596
|
|
|
Collagen type XXVIII alpha 1 chain |
COL28 |
Curated: Amphetamine or sympathomimetic abuse, Bipolar disorder, Dementia, Frontotemporal dementia, Major depressive disorder, Oligodendroglioma, Schizophrenia
Unreviewed: Glioblastoma
|
5597
|
|
|
Collagen type II alpha 1 chain |
ACG2, ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED |
Curated: 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 disorders, Dysspondyloenchondromatosis, Edema, Epiphyseal dysplasia, Hearing loss, 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, Spondyloepimetaphyseal dysplasia, Spondylometaphyseal dysplasia, Squamous cell carcinoma, Stargardt disease, Stickler syndrome, Synovitis, Diabetes mellitus type 2, Vitreoretinopathy, Kniest dysplasia, Spondyloperipheral dysplasia, Stickler syndrome type 1, Dysplasia of the proximal femoral epiphyses, Platyspondylic dysplasia, Torrance type, Myelomonocytic leukemia, Peripheral primitive neuroectodermal tumor, Thyroid carcinoma, Bile duct cancer, Oral cavity carcinoma, Oligodendroglioma, Non-small cell lung carcinoma, Hepatocellular carcinoma, Skin cancer, Hodgkin lymphoma, Clear cell renal cell carcinoma, Breast cancer, Carcinoma, Uveal melanoma, Parathyroid carcinoma, Esophageal adenocarcinoma, Colorectal cancer, Ductal carcinoma of breast, Gallbladder neoplasms, Skin neoplasms, Meningioma, Small cell carcinoma, Gastric cancer, Small cell lung carcinoma, Diffuse large b-cell lymphoma, Well-differentiated liposarcoma, B-cell chronic lymphocytic leukemia, Extraskeletal myxoid chondrosarcoma, Transitional cell carcinoma, Hairy cell leukemia, Large cell carcinoma, Rhabdomyosarcoma, Carcinoid tumor, Basal cell carcinoma, Osteosarcoma, Glioblastoma, Liposarcoma, Esophageal squamous cell carcinoma, Gastrointestinal stromal tumor, Glioma, Anaplastic astrocytoma, Pancreatic ductal carcinoma, Anaplastic oligodendroglioma, T-cell acute lymphoblastic leukemia, Acral lentiginous melanoma, Aggressive nk-cell leukemia, Lentigo maligna melanoma, Carcinoma of the ampulla of vater, Central nervous system primitive neuroectodermal neoplasm, Gastric intestinal type adenocarcinoma, T-cell large granular lymphocyte leukemia, Gallbladder adenoma, Gastric neuroendocrine tumor g1, Gliomatosis cerebri, Cecum adenocarcinoma, T-cell prolymphocytic leukemia, Rectum adenocarcinoma, Spitz nevus, Duodenal adenocarcinoma, Nodular malignant melanoma, Placental choriocarcinoma, Superficial spreading melanoma, Ependymoma, Plasma cell myeloma, Ovarian endometrioid adenocarcinoma, Spindle cell melanoma, Prostate neuroendocrine neoplasm, Undifferentiated pleomorphic sarcoma, Richter transformation, Digestive system melanoma, Rectal tubular adenoma, Chondroma, Gallbladder biliary intraepithelial neoplasia, Eccrine porocarcinoma, Thymoma, Astrocytoma (excluding glioblastoma), Pancreatic acinar cell carcinoma, Gastric adenosquamous carcinoma, Renal pelvis urothelial carcinoma, Primary central chondrosarcoma, Colon adenocarcinoma, Gastric adenoma, Angiosarcoma, Amelanotic skin melanoma, Gastresophageal junction adenocarcinoma, Uterine corpus adenosarcoma, Endometrial endometrioid adenocarcinoma, Achondrogenesis, type ii or hypochondrogenesis, Sed congenita, Epiphyseal dysplasia, multiple, with myopia and deafness, Multiple epiphyseal dysplasia with myopia and conductive deafness, Legg-calve-perthes disease, Osteoarthritis with mild chondrodysplasia
Unreviewed: Abnormal spinal segmentation, Achondroplasia, Acquired Kyphoscoliosis, Adenocarcinoma Of Colon, Adenoma, Albinism, Allergic rhinitis, Alzheimer disease, Anonychia, Apert Syndrome, Arachnodactyly, Arrhythmogenic right ventricular cardiomyopathy, Arthrogryposis multiplex congenita, Arthropathy, Aseptic necrosis, Asteroid hyalosis, Astrocytoma, Atherosclerosis, Atrophy, Attention Deficit Hyperactivity Disorder, Autism, Avascular Necrosis Of Femoral Head, Avascular Necrosis Of The Capital Femoral Epiphysis, B-Cell Lymphoma, Bipolar Disorder, Bone Disease, Brachydactyly, Campomelic Dysplasia, Cartilage Diseases, Cervical myelopathy, Charcot-Marie-Tooth disease, Chondrodystrophic myotonia, Chondromalacia, Chordoma, Ciliopathy, Clinodactyly, Coffin-Lowry Syndrome, Colitis, Colon Carcinoma, Colonic Neoplasms, Colorectal adenoma, Colorectal Cancer, Colorectal Neoplasms, Congenital abnormalities, Congenital anomalies of kidney and urinary tract, Congenital Clubfoot, Congenital Exomphalos, Congenital kyphoscoliosis, Congenital Pectus Carinatum, Congenital Pectus Excavatum, Connective Tissue Disease, Corneal opacity, Cystic hygroma, Czech Dysplasia, Developmental delay, Developmental disability, Developmental dysplasia of the hip, Diabetes Mellitus, Diabetes mellitus, type 1, Diastrophic Dysplasia, Disorder Of Eye, Dwarfism, Dyschondroplasias, Dyskinesia, familial, with facial myokymia, Dysmorphic Features, Ectopia Lentis, Ehlers-Danlos Syndrome, Enchondroma, Enchondromatosis, Epidermolysis Bullosa, Epilepsy, Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness, Esophagus Neoplasm, Exostoses, Exudative vitreoretinopathy, Eye abnormalities, Eye disease, Femur Head Necrosis, Frontal bossing, Glaucoma, Glossoptosis, Growth disorder, Headache, Hearing Loss, Heart failure, Hernia, Femoral, Hip Contracture, Holoprosencephaly, Hydrops Fetalis, Hypertension, Hypertrophy, Hypochondrogenesis, Hypophosphatemic rickets, Hypoplasia of the maxilla, Hypoplasia Of Thumb, Hypospadias, Hypoxia, Intervertebral Disc Degeneration, Intervertebral disc disease, Intervertebral Disc Disorder, Intervertebral disc displacement, Intestinal Neoplasms, Jaw Abnormalities, Kashin-Beck Disease, Knee osteoarthritis, Kniest Dysplasia, Legg-Calve-Perthes Disease, Leiomyoma, Lipoma, Lipomatosis, Macrocephaly, Malignant Neoplasm, Malocclusion, Marfan Syndrome, Marshall Syndrome, Megaepiphyseal Dwarfism, Melnick-Needles Syndrome, Membranous glomerulonephritis, Mental retardation, Mesenchymal Chondrosarcoma, Metachromatic leukodystrophy, Micromelia, Microstomia, Mitral Valve Prolapse, Mitral Valve Stenosis, Motor delay, Mouth disease, Mouth neoplasm, Mucopolysaccharidosis, Multiple Congenital Anomalies, Multiple Epiphyseal Dysplasia, Multiple polyposis syndrome, Multiple Sclerosis, Namaqualand Hip Dysplasia, Necrosis, Neoplasms, Neurodegenerative disorder, Neurosensory Hearing impairment, Nystagmus, Osteoarthritis Of Hip, Osteoarthrosis Deformans, Osteochondrodysplasia, Osteogenesis Imperfecta, Osteopetrosis, Otitis media, Otospondylomegaepiphyseal Dysplasia, PERSISTENT FETAL VASCULATURE, Pierre-Robin Syndrome, Pilomyxoid Astrocytoma, Pituitary dwarfism, Platyspondylic Dysplasia, Polyarthritis, Postaxial hand polydactyly, Premature osteoarthritis, Progressive Pseudorheumatoid Dysplasia, Proptosis, Prostatic neoplasm, Pseudoachondroplasia, Ptosis, Pulmonary hypoplasia, Pyle Metaphyseal Dysplasia, Retinal Detachment, Retinal Diseases, Retinal Dysplasia, Retinal Lattice Degeneration, Retinal Pigment Epithelial Detachment, Retinitis Pigmentosa, Retinoschisis, Rhizomelia, Sacral defect, Schmorl`s Nodes, Schwartz-Jampel Syndrome, Sensorineural hearing loss, Sexual Dysfunction, Short femur, Skeletal Dysplasia, Skin Erosion, Sleep Apnea, Snowflake vitreoretinal degeneration, Spade-Like Hand, Spondyloenchondrodysplasia, Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal Dysplasia With Metatarsal Shortening, Spondyloepiphyseal Dysplasia With Osteoarthritis, Spondylometaphyseal Dysplasia, Spondyloperipheral Dysplasia-Short Ulna Syndrome, Stomach neoplasms, Strudwick Syndrome, Submucous cleft of soft and hard palate, Synovial Hypertrophy, Tetralogy of Fallot, Tracheal Stenosis, Tracheomalacia, Trichohepatoenteric Syndrome, Trichorhinophalangeal syndrome, Ulcerative colitis, Uranostaphyloschisis, Van Buchem Disease, Vascular Diseases, Velopharyngeal Insufficiency, Vitreoretinal degeneration, Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia, Wagner syndrome, Zellweger Syndrome
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5598
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|
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Collagen type III alpha 1 chain |
EDS4A, EDSVASC, PMGEDSV |
Curated: 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 syndrome, Skin cancer, Diffuse large b-cell lymphoma, Granulosa cell tumor of ovary, Squamous cell carcinoma, Melanoma, Gastric cancer, Meningioma, Carcinoma, Prostate cancer, Basal cell carcinoma, Clear cell renal cell carcinoma, Carcinoid tumor, Gallbladder neoplasms, Transitional cell carcinoma, Small cell carcinoma, Endometrial hyperplasia, Small cell lung carcinoma, Thyroid carcinoma, Peripheral primitive neuroectodermal tumor, Anaplastic astrocytoma, Anaplastic oligodendroglioma, Glioblastoma, Hodgkin lymphoma, Gastrointestinal stromal tumor, Childhood kidney wilms tumor, Liposarcoma, Lung cancer, Oral cavity carcinoma, Ovarian serous carcinoma, Colonic neoplasms, B-cell acute lymphoblastic leukemia, Hepatocellular carcinoma, Acute myeloid leukemia, Lymphoblastic leukemia, Colorectal cancer, Bile duct cancer, Non-small cell lung carcinoma, Papillary renal cell carcinoma, Esophageal squamous cell carcinoma, T-cell leukemia-lymphoma, B-cell chronic lymphocytic leukemia, Urinary bladder cancer, Osteosarcoma, Esophageal adenocarcinoma, Large cell carcinoma, Ductal carcinoma of breast, Pancreatic ductal carcinoma, Parathyroid carcinoma, Stroke, Ischemic stroke, Gastric intestinal type adenocarcinoma, Extranodal nasal nk/t cell lymphoma, Small intestine adenocarcinoma, Neurofibroma, Nodular malignant melanoma, Eccrine porocarcinoma, Rectum adenocarcinoma, Astrocytoma (excluding glioblastoma), Duodenal adenocarcinoma, Lentigo maligna melanoma, Thyroid gland oncocytic follicular carcinoma, Superficial spreading melanoma, Carcinoma of the ampulla of vater, T-cell large granular lymphocyte leukemia, Small intestinal enteropathy-associated t-cell lymphoma, Plasma cell myeloma, Brain stem glioblastoma, Uterine carcinosarcoma, Her2 positive breast carcinoma, Combined hepatocellular carcinoma and cholangiocarcinoma, Female breast carcinoma, Extramammary paget disease, Primary peritoneal carcinoma, Breast carcinoma by gene expression profile, Villous adenoma of colon, Gastric neuroendocrine tumor g1, Adrenocorticotropic hormone-producing pituitary gland adenoma, Skin angiosarcoma, Gastric adenoma, Mantle cell lymphoma, Parathyroid gland adenoma, Primary central nervous system lymphoma, Placental choriocarcinoma, Cecum adenocarcinoma, Endometrial serous adenocarcinoma, Digestive system melanoma, Colon adenocarcinoma, Adrenal cortex carcinoma, Renal pelvis urothelial carcinoma, Small intestinal tubulovillous adenoma, Central nervous system primitive neuroectodermal neoplasm, Pancreatic acinar cell carcinoma, Rectal tubular adenoma, Adenosquamous lung carcinoma, Anaplastic large cell lymphoma, Myelofibrosis, Gliomatosis cerebri, Acral lentiginous melanoma, Polymicrogyria with or without vascular-type eds
Unreviewed: Abdominal Aortic Aneurysm, Acrogeria, Acrosteolysis, Adenocarcinoma, Alcoholic Liver Cirrhosis, Alopecia, Alveolitis, Alzheimer disease, Anemia, Aneurysm, Angina pectoris, Aortic Aneurysm, Aortic disease, Aortic Diseases, Aortic rupture, Aortic Valve Insufficiency, Arthritis, Atherosclerosis, Atrial fibrillation, Benign mucous membrane pemphigoid, Biliary atresia, Bladder carcinoma, Bladder Diverticulum, Bladder Neoplasm, Bowen’s disease, Brain ischemia, Brain malformation, Brain neoplasms, Breast neoplasm, Cancer, Carcinogenesis, Cardiomyopathy, Cardiovascular disease, Carotid artery stenosis, Cavitary optic disc anomalies, Cerebellar Hypoplasia, Cerebral Infarction, Cerebral Saccular Aneurysm, Cerebrovascular disorder, Cholestasis, Cirrhosis, Clubfoot, Colorectal Cancer, Colorectal neoplasm, Compensatory Hyperinsulinemia, Congenital Aneurysm Of Ascending Aorta, Congenital Camptodactyly, Congenital Clubfoot, Congenital Epicanthus, Congenital Exomphalos, Congenital heart defects, Congenital Pectus Excavatum, Congestive Heart Failure, Connective Tissue Disease, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Crohn Disease, Cryptorchidism, Cystocele, Dermatomyositis, Developmental Delay, Developmental dysplasia of the hip, Diabetes mellitus, type 2, Diabetic angiopathies, Diabetic foot, Diffuse Lymphoma, Dilated cardiomyopathy, Dissection of aorta, Down syndrome, Dwarfism, Ehlers-Danlos Syndrome, Encephalomalacia, Endogenous Hyperinsulinism, Enteritis, Epithelial ovarian carcinoma, Esophageal neoplasm, Exogenous Hyperinsulinism, Facioscapulohumeral Muscular Dystrophy, Fatty Liver, Gastroesophageal Reflux Disease, Gingivitis, Glaucoma, Glioma, Head and neck neoplasm, Heart disease, Heart Failure, Hemorrhage, Hemorrhagic disease, Hepatic veno occlusive disease, Hiatal Hernia, Hyperopia, Hypospadias, Hypoxic-Ischemic Encephalopathy, Idiopathic pulmonary fibrosis, Impaired Cognition, Intervertebral Disc Degeneration, Intervertebral disc disease, Intervertebral disc displacement, Intracranial Aneurysm, Intrahepatic Cholangiocarcinoma, Ischemic Stroke, Keratoconus, Kidney Disease, Kidney neoplasm, Left Ventricular Hypertrophy, Leiomyoma, Lipoatrophy, Lipoblastoma, Lipodystrophy, Liver carcinoma, Liver Cirrhosis, Liver failure, Liver Fibrosis, Loeys-Dietz Syndrome, Lung adenocarcinoma, Lung disease, Lung Diseases, Lung neoplasms, Lymphatic metastasis, Lymphoma, Malignant Neoplasm, Marfan Syndrome, Melanocytic nevus, Melorheostosis, Mental retardation, Microdontia, Micrognathism, Microstomia, Migraine, Mitral Valve Prolapse, Mouth neoplasm, Multiple myeloma, Myocardial Infarction, Nasopharyngeal carcinoma, Neoplasms, Non-Alcoholic Fatty Liver Disease, Oculomotor nerve palsy, Open angle glaucoma, Osteoarthritis, Osteochondrodysplasia, Osteogenesis Imperfecta, Osteoporosis, Ovarian neoplasm, Pancreatic neoplasm, Papillary thyroid cancer, Pelvic Organ Prolapse, Perforation Of Colon, Periodontitis, Portal hypertension, Proptosis, Prostatic neoplasm, Pterygium, Ptosis, Pulmonary Fibrosis, Pulmonary hypertension, Renal Carcinoma, Renal cell carcinoma, Rupture Of Artery, Sarcoidosis, Sarcoma, Sarcopenia, Scleroderma, Scoliosis, Skeletal Dysplasia, Skin disease, Sleep Apnea, Spontaneous coronary artery dissection, Spontaneous pneumothorax, Sprengel Deformity, Stable Angina, Stomach neoplasms, Subarachnoid hemorrhage, Thoracic aortic aneurysm, Thoracic Aortic Aneurysm And Aortic Dissection, Thoracic disease, Transient Ischemic Attack, Trichohepatoenteric Syndrome, Ulcerative colitis, Urinary bladder neoplasms, Uterine Fibroids, Vascular system injury, Vertebral Artery Dissection, Vulval varices, Werner Syndrome
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5599
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|
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Collagen type IV alpha 1 chain |
BSVD, BSVD1, COL4A1s, PADMAL, RATOR |
Curated: 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 syndrome, COL4A1-related disorder, Seizures, Developmental delay, Myopathy, Cognitive impairment, Porencephaly 1, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, Brain small vessel disease 1 with or without ocular anomalies
Unreviewed: Absence Of Septum Pellucidum, Acquired Porencephaly, Agenesis Of Corpus Callosum, Aicardi Goutieres Syndrome, Alexander Disease, Alveolar capillary dysplasia, Alzheimer disease, Anemia, Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps, Arterial Tortuosity Syndrome, Arteriosclerosis, Arthritis, Astrocytoma, Atherosclerosis, Atrial Septal Defect, Autism, Autism Spectrum Disorder, Axenfeld anomaly, Bladder carcinoma, Bladder Neoplasm, Blood coagulation disorder, Blood Coagulation Disorders, Bone disease, Bowen’s disease, Brain infarction, Brain injuries, Brain neoplasms, Brain Small Vessel Disease With Axenfeld-Rieger Anomaly, Brain Small Vessel Disease With Hemorrhage, Brain Small Vessel Disease with or without ocular anomalies, Breast Cancer, Breast Carcinoma, Breast neoplasm, CADASIL Syndrome, Carcinogenesis, Cardiomyopathy, Cardiovascular abnormalities, Cardiovascular Diseases, Cataract, Cataract-microcornea syndrome, Central nervous system disease, Cerebellar atrophy, Cerebellar Hypoplasia, Cerebral Aneurysm, Cerebral Microangiopathy, Cerebrovascular disorder, Cerebrovascular Disorders, Cognition disorder, Colorectal neoplasm, Congenital abnormalities, Congenital anomalies of kidney and urinary tract, Congenital Cataract, Congenital Coloboma Of Iris, Congenital heart defect, Congenital Heart Disease, Congenital heart septal defect, Congenital Hypoplasia Of Penis, Congenital Porencephaly, Coronary Arteriosclerosis, Coronary Heart Disease, Cortical development malformation, Cryptorchidism, Cystic Kidney Disease, Dandy-Walker Syndrome, Degenerative Brain Disorder, Developmental Delay, Developmental disability, Developmental Porencephaly, Diabetic Nephropathy, Dilated cardiomyopathy, Disorder Of Eye, Ductal Carcinoma, Dyslipidemias, Dysmorphic Features, Ehlers-Danlos Syndrome, Epilepsy, Epileptic encephalopathy, Esophageal squamous cell carcinoma, Exotropia, Fabry disease, Facial paralysis, Focal cortical dysplasia, Focal segmental glomerulosclerosis, Gastric Cancer, Gastritis, Glaucoma, Glioblastoma, Glioma, Globoid Cell Leukodystrophy, Glomerular Hyalinosis, Glomerulosclerosis, HANAC Syndrome, Heart Failure, Hematuria, Hemiplegia, Hemiplegic Migraine, Hemorrhage, Hemorrhagic stroke, Hepatocellular carcinoma, Hydrocephalus, Hydrocephalus Syndrome, X-Linked, Hypersensitivity, Hypertension, Hypertrophic cardiomyopathy, Hypoplasia Of The Optic Nerve, Hypothyroidism, Idiopathic pulmonary fibrosis, Iga nephropathy, Impaired Cognition, Infertility, Intellectual developmental disorder, Intracranial Aneurysm, Intracranial hemorrhage, Invasive Duct and Lobular Carcinoma, Ischemic Stroke, Kidney Disease, Kidney Failure, Leukodystrophy, Leukoencephalopathy, Leukoencephalopathy with vanishing white matter, Leukoplakia, Liver Fibrosis, Lung Cancer, Lung carcinoma, Lupus Nephritis, Lymphoma, Macrocephaly, Major depressive disorder, Malignant Neoplasm, Mammary Neoplasms, Melanoma, MELAS Syndrome, Mental Depression, Mental retardation, Metabolic syndrome, Microangiopathic hemolytic anemia, Microcephaly, Microcornea, Microphthalmia, Microphthalmos, Mitochondrial Diseases, Motor Disorders, Mouth neoplasm, Movement Disorders, Multiple myeloma, Multiple renal cysts, Muscle Eye Brain Disease, Muscular dystrophy, Myocardial Infarction, Myopia, Neoplasms, Nephroblastoma, Nephronophthisis, Nephrotic Syndrome, Neurodegenerative disorder, Neuromuscular Diseases, Optic Atrophy, Orofacial cleft, Osteoarthritis, Osteoporosis, Ovarian neoplasm, Pachygyria, Parkinson disease, Periventricular Leukomalacia, Persistent Hyperplastic Primary Vitreous, Platelet disorder, Polycystic kidney disease, Polymicrogyria, Pontine Microangiopathy With Leukoencephalopathy, Porencephalic cyst, Porencephaly, Posteriorly Rotated Ear, Prostate cancer, Prostatic neoplasm, Pterygium, Quadriplegia, Raynaud Phenomenon, Renal cyst, Renal Insufficiency, Retinal Detachment, Retinal Dysplasia, Retinal Dystrophy, Rheumatoid arthritis, Senile Dementia, Sleep Apnea, Specific Learning Disorder, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Submucosal cleft palate, Syndromic microphthalmia, Systemic mastocytosis, Thin Basement Membrane Disease, Thoracic Aortic Aneurysm And Aortic Dissection, Thrombosis, Urinary bladder cancer, Urinary bladder neoplasms, Uterine neoplasm, Vascular Diseases, Vesicoureteral Reflux, Walker-Warburg Congenital Muscular Dystrophy, Walker-Warburg Syndrome
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5600
|
|
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Collagen type IV alpha 2 chain |
BSVD2, ICH, POREN2 |
Curated: 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, Vasculitis, Porencephaly 2
Unreviewed: Acquired Porencephaly, Amyotrophic Lateral Sclerosis, Androgen-Insensitivity Syndrome, Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps, Aortic dissection, Arthritis, Astrocytoma, Atrial Fibrillation, Aural Atresia, Congenital, Autism, Autoimmune Lymphoproliferative Disorder, Blood Coagulation Disorders, Brain disease, Brain injuries, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma, Cardiovascular disease, Cardiovascular Diseases, Cataract, Cerebral amyloid angiopathy, Cerebral arteriovenous malformation, Cerebral Infarction, Cerebral Microangiopathy, Cerebrovascular Disorders, Chondromyxoid Fibroma, Cognition disorder, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital abnormalities, Congenital heart defect, Congenital Heart Disease, Congenital Porencephaly, Coronary Arteriosclerosis, Coronary Heart Disease, Cortical development malformation, Dementia, Developmental Delay, Developmental Porencephaly, Diabetes Mellitus, Diabetes mellitus, type 2, Disseminated Intravascular Coagulation, Epilepsy, Epithelial ovarian carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Gastritis, Glioblastoma, Glomerulonephritis, Hematoma, Hemiplegia, Hemiplegic Migraine, Hemorrhage, Hemorrhagic stroke, Hepatocellular carcinoma, Hereditary Nephritis, Hodgkin Disease, Huntington Disease, Hyperlipidemia, Hypoplasia Of The Optic Nerve, Intracranial hemorrhage, Ischemic Stroke, Keratoconus, Kidney Disease, Kidney Failure, Leiomyoma, Leukemia, Leukoencephalopathy, Long QT Syndrome, Lung Cancer, Lung carcinoma, Lung neoplasms, Malignant Neoplasm, Mammary Neoplasms, Meningioma, Metabolic syndrome, Microphthalmia, Migraine, Miosis Disorder, Multiple polyposis syndrome, Myelodysplastic Syndrome, Myocardial Infarction, Myopathy, Nephritis, Nephrotic Syndrome, Neurodegenerative disorder, Obesity, Orofacial cleft, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Paresis, Pelvic Organ Prolapse, Periodontitis, Periventricular nodular heterotopia, Pituitary Diseases, Platelet disorder, Polymicrogyria, Porencephalic cyst, Porencephaly, Prostatic neoplasm, Psychotic disorders, Schizencephaly, Scleroderma, Seizures, Senile Dementia, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Subarachnoid hemorrhage, Thin Basement Membrane Disease, Triple negative breast cancer, Triple Negative Breast Neoplasms, Uterine Fibroids, Uterine neoplasm
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