Genes?

Curated: N/A

Unreviewed: N/A

Curated: Ciliary dyskinesia, Cone dystrophy, Cone dystrophy, x-linked, Cone-rod dystrophy, Cone-rod dystrophy, x-linked, Esophageal atresia, Hearing loss, Leber congenital amaurosis, Macular degeneration, Atrophic macular degeneration, Macular dystrophy, Night blindness, congenital stationary, Optic atrophy, Ciliary dyskinesia with retinitis pigmentosa, Retinal degeneration, Retinitis pigmentosa, Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness, Retinopathy, X-linked cone-rod dystrophy, RPGR-related retinopathy

Unreviewed: Achromatopsia, Age-related macular degeneration, Amelogenesis imperfecta, Asplenia, Asthenozoospermia, Asthma, Blindness, Breast neoplasm, Bronchiectasis, Bronchitis, Cataract, Choroideremia, Chronic Obstructive Pulmonary Disease, Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome, Ciliopathies, Ciliopathy, Colitis, Color vision deficiency, Colorectal Cancer, Combined deficiency of factor V and factor VIII, Cone Dystrophy, Cone monochromatism, Congenital Hypoplasia Of Penis, Congenital Pectus Excavatum, Congestive Heart Failure, Contiguous gene syndrome, Corneal Dystrophy, Crohn Disease, Diabetes Mellitus, Diabetic Retinopathy, Disorder Of Eye, Duchenne muscular dystrophy, Dyschromatopsia, Exotropia, Gastric Cancer, Glaucoma, Granulomatous disease, Hearing Loss, Hearing loss with stapes fixation, Heart Failure, Hereditary Leber Optic Atrophy, Hydrocephalus, Hyperinsulinism, Hyperopia, Hypogonadism, Intellectual developmental disorder, Kartagener Syndrome, Keratoconus, Leber Congenital Amaurosis, Liver carcinoma, Long QT Syndrome, Lung Diseases, Macular Degeneration, Macular Degeneration, X-Linked, Mental retardation, Myocardial Infarction, Myopia, Nasal polyposis, Nemaline myopathy, Neurodegenerative Disorders, Night blindness, Nyctalopia, Nystagmus, Obesity, Open angle glaucoma, Optic Atrophy, Ornithine Carbamoyltransferase Deficiency, Osteoporosis, Otitis media, Pendular nystagmus, Peroxisomal fatty ACYL-CoA reductase 1 disorder, Prostate cancer, Renal dysplasia and retinal aplasia, RETINAL DEGENERATION, Retinal detachment, Retinal Diseases, Retinal Dystrophy, Retinitis Pigmentosa, Retinitis Pigmentosa, X-Linked, Retinoschisis, Rhinitis, Rod-cone dystrophy, Scoliosis, Sinusitis, Situs Inversus, Staphyloma posticum, Stargardt disease, Ulcerative colitis, Usher Syndrome, Vascular Diseases, Visual disorder

Curated: Leber congenital amaurosis, Bardet-biedl syndrome, Cone dystrophy, Cone-rod dystrophy, Joubert syndrome, Meckel-gruber syndrome, Nystagmus, Optic atrophy, Leber hereditary optic neuropathy, Retinitis pigmentosa, Skin disease

Unreviewed: Age-related macular degeneration, Anencephaly, Asplenia, Cataract, Cerebellar vermis agenesis, Ciliopathies, Congenital blindness, Congenital Cerebral Hernia, Congenital Hepatic Fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker Syndrome, Dementia, Developmental Delay, Disorder Of Eye, Double Ureter, Dysgenesis Neuroepithelialis Retinae, Fibrosis Of Pancreas, Foot Polydactyly, Glaucoma, Hemiplegia/hemiparesis, Hereditary Leber Optic Atrophy, Horizontal nystagmus, Hydrocephalus, Keratoconus, Leber Congenital Amaurosis, Lobar Holoprosencephaly, Low Tension Glaucoma, Macular degeneration, Male Pseudohermaphroditism, Malformation of cortical development, Meckel Syndrome, Meckel-Gruber Syndrome, Mental retardation, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Multicystic renal dysplasia, Nephronophthisis, Neurodegenerative Disorders, Nyctalopia, Obesity, Open angle glaucoma, Optic Atrophy, Pancreatic Cyst, Pendular nystagmus, Polycystic liver disease, Polydactyly, Postaxial hand polydactyly, Retinal degeneration, Retinal detachment, Retinal Diseases, Retinal Dystrophy, Retinitis Pigmentosa, Retinitis Pigmentosa, X-Linked, Rod-cone dystrophy, Rotary nystagmus, Sclerocornea, Situs Inversus, Syndromic microphthalmia, Talipes, True Hermaphroditism, Urethral atresia, Vertical nystagmus

Curated: Anencephaly, Aprosencephaly, Attention deficit hyperactivity disorder, Autism, Bardet-biedl syndrome, Barrett esophagus, Bipolar disorder, Cerebellar ataxia, Cerebellar diseases, Ciliary dyskinesia, Ciliopathy, Coach syndrome, Color vision deficiency, Cystic kidney disease, Vascular dementia, Desbuquois syndrome, Eye disorder, Esophageal disease, Eye disease, Aplasia of the vermis, Gastroesophageal reflux disease, Joubert syndrome, Kidney disease, Leber congenital amaurosis, Meckel-gruber syndrome, Intellectual developmental disorder, Metabolic syndrome, Nephronophthisis, Optic atrophy, Retinal degeneration, Retinitis pigmentosa, Diabetes mellitus type 2, Vitiligo

Unreviewed: Agenesis Of Corpus Callosum, Alstrom syndrome, Arima Syndrome, Asplenia, Bipolar Disorder, Cataract, Cerebellar Diseases, Cerebellar vermis agenesis, Ciliopathies, Cirrhosis, Coloboma of optic disc, Congenital Cerebral Hernia, Congenital Coloboma Of Iris, Congenital heart defects, Congenital Hepatic Fibrosis, Congenital ocular coloboma, Congestive Heart Failure, Cryptorchidism, Cystic liver disease, Dandy-Walker Syndrome, Dementia, Developmental Delay, Diabetes Mellitus, Diabetes mellitus, type 2, Disorder Of Eye, Double Ureter, Dyskinesia, familial, with facial myokymia, Fibrosis Of Pancreas, Foot Polydactyly, Fundus Coloboma, Hepatic fibrosis, Hirschsprung Disease, Hydrocephalus, Hypertension, Jacobsen Syndrome, Johanson-Blizzard Syndrome, Joubert syndrome with congenital hepatic fibrosis, Joubert Syndrome With Hepatic Defect, Joubert Syndrome With Renal Defect, Kidney Disease, Kidney failure, Leber Congenital Amaurosis, Liver carcinoma, Liver failure, Liver Fibrosis, Liver neoplasms, Lobar Holoprosencephaly, Macrocephaly, Macrostomia, Male Pseudohermaphroditism, Malformation of cortical development, Meckel Syndrome, Meckel-Gruber Syndrome, Mental retardation, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Multicystic renal dysplasia, Multiple small medullary renal cysts, Neoplasms, Nystagmus, Obesity, Occipital Encephalocele, Oculomotor apraxia, Oculovestibuloauditory Syndrome, Optic Atrophy, Oral cleft, Pancreatic Cyst, Pemphigus Vulgaris, Polycystic liver disease, Polydactyly, Polymicrogyria, Portal Hypertension, Postaxial hand polydactyly, Ptosis, Renal cyst, Renal dysplasia and retinal aplasia, Renal glycosuria, Renal Insufficiency, Retinal coloboma, Retinal Dystrophy, Sclerocornea, Scoliosis, Situs Inversus, Sleep Apnea, Strabismus, Syndromic microphthalmia, Talipes, Timothy Syndrome, Tourette Syndrome, Tremor, Tricuspid Valve Stenosis, True Hermaphroditism, Tuberous Sclerosis, Urethral atresia, Visual disorder, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS

Curated: Alzheimer disease, Neurodevelopmental disorder, Congenital myasthenic syndrome, Coronary artery disease, Epilepsy, Esophageal cancer, Generalized epilepsy, Gout, Insomnia, Metabolic syndrome, Myasthenic syndrome, Non-specific syndromic intellectual disability, Open angle glaucoma, Partial epilepsy, Diabetes mellitus type 2, Upper aerodigestive tract neoplasm

Unreviewed: Adenocarcinoma, Colorectal Cancer, Coronary Heart Disease, Diabetes Insipidus, Dyskinetic Syndrome, Huntington Disease, Learning disorders, Lewy Body Disease, Myasthenic Syndrome, Nervous system disease, Nervous System Disorder, Parkinson disease, Pituitary Diseases, Tetralogy of Fallot

Curated: Alzheimer disease, Central nervous system cancer, Glioblastoma, Glioma, Glomerulonephritis, Renal pelvis neoplasms, Systemic lupus erythematosus

Unreviewed: Autism, Borderline personality disorder, Breast Cancer, Breast neoplasm, Colonic neoplasm, Colorectal Cancer, Colorectal Neoplasms, Endocrine system disease, Follicular Thyroid Carcinoma, intracranial hypertension, Male infertility, Medulloblastoma, Neoplasms, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: Ribose-5-phosphate isomerase deficiency, Metabolic syndrome

Unreviewed: Carcinogenesis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Developmental Delay, Dysarthria, Endometrial neoplasm, Enzymopathy, Leukoencephalopathy, Liver Cancer, Liver carcinoma, Liver failure, Liver neoplasms, Lung neoplasms, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Metabolic Diseases, Multiple myeloma, Multiple polyposis syndrome, Neoplasms, Nervous System Diseases, Nystagmus, Optic Atrophy, Papillary thyroid carcinoma, Peripheral Neuropathy, Polyneuropathy, Renal cell carcinoma, Ribose 5-Phosphate Isomerase Deficiency, Sensorimotor neuropathy, Thyroid Neoplasm, Venous thromboembolism