Genes?

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, Hereditary steroid-resistant nephrotic syndrome, Hearing loss, Hematuria, 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, Proteinuria, Hematuria, benign familial, Alport syndrome 3a, autosomal dominant, Alport syndrome 3b, autosomal recessive

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, 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, Benign familial pemphigus, Alport syndrome 2, autosomal recessive, Hematuria, benign familial, 1

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, Proteinuria, Focal segmental glomerulosclerosis

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, 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, 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, Bleeding disorder, Fibromuscular dysplasia, multifocal

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

Curated: 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, Ehlers-Danlos syndrome, classic type, Multisystemic smooth muscle dysfunction syndrome, Bleeding disorder

Unreviewed: Aneurysm, Aortic Aneurysm, Aortic dissection, Arachnodactyly, Arthritis, Asthma, Atrial Septal Defect, Atrophy, Autism, Autoimmune Lymphoproliferative Disorder, Bladder carcinoma, Bladder Neoplasm, Blood Coagulation Disorders, Brain neoplasms, Breast neoplasm, Carcinogenesis, Cardiomyopathy, Cardiovascular Diseases, Classical-Like Ehlers-Danlos Syndrome, Colonic neoplasm, Colorectal Cancer, Colorectal neoplasm, Congenital Epicanthus, Congenital Exomphalos, Congenital Keratoglobus, Congenital Pectus Carinatum, Connective Tissue Disease, Constipation, Corneal Dystrophy, Diabetic foot, Dissecting Aortic Aneurysm, Ductal carcinoma, Dwarfism, Ectopia Lentis, Eczema, Ehlers-Danlos Syndrome, Endometrial neoplasm, Esophageal squamous cell carcinoma, Gastric Cancer, Gestational diabetes, Glaucoma, Hemochromatosis, Hemorrhage, Hemorrhagic disease, Hiatal Hernia, Hypertension, Hypoxia, Idiopathic pulmonary fibrosis, Impaired Cognition, Intellectual developmental disorder, Intervertebral disc disease, Intracranial aneurysm, Leiomyoma, Liver Cirrhosis, Liver Fibrosis, Lymphatic metastasis, Malignant Neoplasm, Mesothelioma, Metabolic Syndrome, Microcornea, Microdontia, Migraine, Miscarriage, Mitral Valve Prolapse, Mouth neoplasm, Multisystemic Smooth Muscle Dysfunction Syndrome, Myocardial Infarction, Myocardial Ischemia, Myopia, Neoplasms, Neuroblastoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Papillary thyroid cancer, Pheochromocytoma, Prostatic neoplasm, Pulmonary fibrosis, Pulmonary hypertension, Retinal Detachment, Rheumatoid arthritis, Scleroderma, Scoliosis, Shagreen patch, Spina bifida occulta, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Thoracic Aortic Aneurysm And Aortic Dissection, Tongue carcinoma, Tricuspid Valve Prolapse, Urinary bladder cancer, Urinary bladder neoplasms, Urticaria, Venous Insufficiency, Vertebral Artery Dissection

Curated: Keratoconus, Prostatic neoplasms

Unreviewed: Breast neoplasm, Eczema, Ehlers-Danlos Syndrome, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Urinary bladder neoplasms