Genes?

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

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, Myopathy, 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, Seizures, 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

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

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

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: 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 loss, 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-linked

Unreviewed: Alport Syndrome, Alport Syndrome, X-Linked, Alzheimer disease, Andersen Syndrome, Androgen insensitivity syndrome, Arterial Tortuosity Syndrome, Asthma, Autoimmune Diseases, Azotemia, Benign Hematuria, Benign neonatal epilepsy, Breast neoplasm, Carcinoma, Cataract, Chandler Syndrome, Chronic Obstructive Pulmonary Disease, Colon Carcinoma, Colorectal neoplasm, CORNEAL ENDOTHELIAL DYSTROPHY, Corneal erosion, Deafness, Down Syndrome, Exudative Macular Degeneration, Eye abnormalities, Fabry disease, Focal segmental glomerulosclerosis, Genetic Steroid-Resistant Nephrotic Syndrome, Geographic Atrophy, Glioblastoma, Glioma, Glomerulonephritis, Glomerulosclerosis, Hearing Loss, Hereditary Nephritis, High-frequency sensorineural hearing impairment, Hydrocephalus Syndrome, X-Linked, Hyperoxaluria, Hypertension, Hypertensive Nephropathy, Iga nephropathy, Kidney Disease, Kidney Failure, Left Ventricular Hypertrophy, Lenticonus, Leukemia, Lip and Oral Cavity Carcinoma, Liver carcinoma, Lung carcinoma, Lymphatic Metastasis, Lymphoma, Malignant neoplasm of mouth, Myeloproliferative disorder, Myocardial Infarction, Myopia, Neoplasms, Nephritis, Nephrocalcinosis, Nephrotic Syndrome, Neuropathy, Noonan syndrome, Osteogenesis imperfecta, Osteosarcoma, Ovarian neoplasm, Papillary thyroid cancer, Pierson Syndrome, Polymorphous corneal dystrophy, Posterior polymorphous corneal dystrophy, Prostate cancer, Proteinuria, Pulmonary edema, Renal Carcinoma, Renal cell carcinoma, Renal fibrosis, Renal Glomerular Disease, Renal Insufficiency, Scleroderma, Selective immunoglobulin a deficiency, Steroid resistant nephrotic syndrome, Systemic lupus erythematosus, Temporomandibular Joint Disorders, Thin Basement Membrane Disease, Tibial muscular dystrophy, Urofacial syndrome

Curated: Alport syndrome, Alzheimer disease, Kidney disease, Collagen vi-related myopathy, Coronary artery disease, Diffuse mesangial sclerosis, Digenic alport syndrome, Focal glomerulosclerosis, Glomerulonephritis, Gout, Hearing loss, 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-linked

Unreviewed: Alport Syndrome, Alport Syndrome, X-Linked, Andersen Syndrome, Androgen insensitivity syndrome, Arterial Tortuosity Syndrome, Benign Hematuria, Benign neonatal epilepsy, Cataract, Chronic obstructive pulmonary disease, Corneal erosion, Endometrial neoplasm, Esophageal neoplasm, Eye abnormalities, Fabry disease, Focal segmental glomerulosclerosis, Fuchs endothelial dystrophy, Glomerulosclerosis, Hearing Loss, Hearing loss with stapes fixation, Hereditary Nephritis, Hydrocephalus Syndrome, X-Linked, Hypertensive Nephropathy, Iga nephropathy, Keratoconus, Kidney Disease, Kidney Failure, Kidney neoplasm, Lenticonus, Myasthenic syndrome, Nephritis, Nephrotic Syndrome, Neuropathy, Oguchi disease, Osteogenesis imperfecta, Osteoporosis, Proteinuria, Renal cell carcinoma, Renal Glomerular Disease, Renal Insufficiency, Retinal Lattice Degeneration, Scleroderma, Selective immunoglobulin a deficiency, Thin Basement Membrane Disease, Urofacial syndrome

Curated: 22q13.3 deletion syndrome, Alport syndrome, Hemolytic uremic syndrome, Kidney disease, Collagen vi-related myopathy, Digenic alport syndrome, Focal glomerulosclerosis, Hearing loss, Hematuria, Hypertension, Leiomyoma, Nephrotic syndrome, Non-melanoma skin carcinoma, Steroid-resistant nephrotic syndrome, Alport syndrome, x-linked, X-linked diffuse leiomyomatosis with alport syndrome

Unreviewed: Adenocarcinoma, Adrenoleukodystrophy, Alport Syndrome, Alport Syndrome, X-Linked, Andersen Syndrome, Aortic Diseases, Arterial Tortuosity Syndrome, Asthma, Atrophy, Basal cell carcinoma, Benign Hematuria, Breast Cancer, Breast Carcinoma, Cataract, Chondrosarcoma, Colorectal Neoplasms, Congenital Cataract, Congenital Central Hypoventilation, Congenital ocular coloboma, Corneal dystrophy, Corneal erosion, Deafness, Dermatomyositis, Diabetes Mellitus, Diabetic Nephropathy, Diabetic neuropathy, Diffuse leiomyomatosis, Dilated cardiomyopathy, Edema, Epilepsy, Eye abnormalities, Fibromuscular Dysplasia, Focal segmental glomerulosclerosis, Glomerulonephritis, Glomerulosclerosis, Hearing Loss, Hearing loss with stapes fixation, Henoch-Schonlein Nephritis, Hereditary elliptocytosis, Hereditary Nephritis, High-frequency sensorineural hearing impairment, Hydrocephalus Syndrome, X-Linked, Hypoparathyroidism, Ichthyosis, Iga nephropathy, Intellectual developmental disorder, Kidney Disease, Kidney Failure, Leiomyosarcoma, Lenticonus, Leukocyte adhesion deficiency, Long QT Syndrome, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Diseases, Lymphoblastic Leukemia, Malignant hyperthermia, Malignant Neoplasm, Mental retardation, Myopia, Neoplasms, Nephritis, Nephrotic Syndrome, Osteogenesis imperfecta, Periodic Paralysis, Posterior polymorphous corneal dystrophy, Proteinuria, Pulmonary Fibrosis, Pulmonary hypertension, Renal cell carcinoma, Renal Glomerular Disease, Renal Insufficiency, Renal Tubular Disorder, Respiratory Distress Syndrome, Retinal detachment, Retinal Diseases, Rheumatoid arthritis, Sclerosis, Selective immunoglobulin a deficiency, Sensorineural hearing loss, Stomach neoplasms, Thin Basement Membrane Disease, Thoracic Aortic Aneurysm And Aortic Dissection, Thrombophilia, Trichohepatoenteric Syndrome, Triple negative breast cancer, Uterine Fibroids, Waardenburg Syndrome

Curated: Deafness, x-linked, Leiomyoma, Premature ovarian failure, Alport syndrome, x-linked, X-linked diffuse leiomyomatosis with alport syndrome, X-linked nonsyndromic hearing loss, hearing loss, X-linked 6

Unreviewed: Adenocarcinoma, Adenoma, Alport Syndrome, Alport Syndrome, X-Linked, Basal cell carcinoma, Carcinogenesis, Carcinoma, Cataract, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Deafness, X-Linked, Developmental Delay, Diffuse leiomyomatosis, Fibromuscular Dysplasia, Hearing loss, Hydrocephalus Syndrome, X-Linked, Kidney Disease, Kidney Failure, Leiomyosarcoma, Malignant Neoplasm, Miscarriage, Neoplasms, Nonsyndromic Deafness, Peritoneal neoplasm, Prostate cancer, Squamous cell carcinoma, Stomach neoplasms, Triple negative breast cancer, Uterine Fibroids

Curated: 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 syndrome, Ehlers-Danlos syndrome, classic type

Unreviewed: Acquired Kyphoscoliosis, Anaplastic Carcinoma, Aneurysm, Anterior cruciate ligament injury, Aortic Aneurysm, Aortic disease, Arachnodactyly, Arthritis, Asthma, Atrial fibrillation, Atrial Septal Defect, Atrophy, Autoimmune Lymphoproliferative Disorder, Behcet disease, Bicuspid aortic valve, Blood coagulation disorder, Blood Coagulation Disorders, Bowel diverticulosis, Brain infarction, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchiolitis, Carcinoma Of The Head And Neck, Cardiomyopathy, Cardiovascular Diseases, Carpal Tunnel Syndrome, Classical-Like Ehlers-Danlos Syndrome, Collagenopathy, Colorectal neoplasm, Congenital Clubfoot, Congenital Epicanthus, Congenital Exomphalos, Congenital genu recurvatum, Congenital Hip dislocation, Congenital Keratoglobus, Congenital kyphoscoliosis, Congenital Pectus Carinatum, Connective Tissue Disease, Corneal Dystrophy, Cutis Laxa, Diabetes mellitus, type 2, Diabetic retinopathy, Duchenne muscular dystrophy, Dwarfism, Ectopia Lentis, Eczema, Ehlers-Danlos Syndrome, Endometrial neoplasm, Esophageal squamous cell carcinoma, Fibroadenoma, Glaucoma, Glioblastoma, Glioma, Hearing loss, Heart disease, Hemorrhage, Hemorrhagic disease, Hereditary Hemorrhagic Telangiectasia, Hiatal Hernia, Hypertension, Hypoxia, Impaired Cognition, Incontinentia Pigmenti Achromians, Intervertebral disc displacement, Intracranial aneurysm, Invasive Duct and Lobular Carcinoma, Kleefstra syndrome, Lung adenocarcinoma, Lung disease, Lymphatic metastasis, Malignant Neoplasm, Meningioma, Mesothelioma, Metaphyseal chondrodysplasia, Microcornea, Microdontia, Migraine, Miscarriage, Mitral Valve Prolapse, Mouth neoplasm, Myopia, Nail-Patella Syndrome, Neoplasms, Open angle glaucoma, Osteoarthritis, Osteogenesis Imperfecta, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Papillary thyroid cancer, Parkinson disease, Pelvic Organ Prolapse, Periodontitis, Polycystic ovary syndrome, Prostatic neoplasm, Prostatic Neoplasms, Renal Carcinoma, Retinal Detachment, Rotator cuff syndrome, Rupture Of Artery, Shagreen patch, Spina bifida occulta, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Tendinopathy, Thoracic Aortic Aneurysm And Aortic Dissection, Thyroid cancer, Tongue carcinoma, Tremor, Tricuspid Valve Prolapse, Tuberous Sclerosis, Urinary bladder neoplasms, Urticaria, Uterine neoplasm, Venous Insufficiency

Curated: N/A

Unreviewed: N/A