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Metadata
ID	SO:0000704
Name	gene
Parent Relationships	is_a biological_region
Related Diseases	null alpha 1-antitrypsin deficiency tuberous sclerosis cystic fibrosis Angelman syndrome disease has basis in monogenic disease familial adenomatous polyposis Brugada syndrome erythrokeratodermia variabilis Weill-Marchesani syndrome cone-rod dystrophy primary congenital glaucoma ADULT syndrome acrokeratosis verruciformis advanced sleep phase syndrome Aicardi-Goutieres syndrome Stargardt disease lambda 5 deficiency cardiofaciocutaneous syndrome Robinow syndrome ciliopathy acromelic frontonasal dysostosis acrofacial dysostosis Cincinnati type ablepharon macrostomia syndrome Ritscher-Schinzel syndrome abdominal obesity-metabolic syndrome anterior segment dysgenesis catecholaminergic polymorphic ventricular tachycardia basal laminar drusen isolated microphthalmia 4 septooptic dysplasia Adams-Oliver syndrome 3 Camurati-Engelmann disease 1 Camurati-Engelmann disease 2 schizophrenia 9 schizophrenia 13 schizophrenia 14 schizophrenia 16 schizophrenia 18 multiple epiphyseal dysplasia due to collagen 9 anomaly combined oxidative phosphorylation deficiency 55 dopamine transporter deficiency syndrome neurodevelopmental disorder with hypotonia and speech delay glucose transporter type 1 deficiency syndrome adult-onset leukoencephalopathy without lacunae hypochondrogenesis achondrogenesis type II adult-onset myofibrillar myopathy 2A contractures, pterygia, and spondylocarpotarsal fusion syndrome infantile histiocytoid cardiomyopathy Alzheimer's disease 1 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia agammaglobulinemia 5 46,XX sex reversal 5 3-methylglutaconic aciduria type 7a agammaglobulinemia 8A agammaglobulinemia 10 Sandestig-Stefanova syndrome corticosteroid-binding globulin deficiency Alzheimer's disease 4 Alzheimer's disease 3 Alzheimer's disease 17 Alzheimer's disease 18 Alzheimer's disease 19 Leber congenital amaurosis 10 Leber congenital amaurosis 3 Leber congenital amaurosis 7 osteogenesis imperfecta type 14 osteogenesis imperfecta type 6 dilated cardiomyopathy 1H dilated cardiomyopathy 1G dilated cardiomyopathy 1I dilated cardiomyopathy 1Z dilated cardiomyopathy 1GG dilated cardiomyopathy 1L dilated cardiomyopathy 1K dilated cardiomyopathy 1P dilated cardiomyopathy 1J dilated cardiomyopathy 1Q dilated cardiomyopathy 1W dilated cardiomyopathy 1M dilated cardiomyopathy 1O dilated cardiomyopathy 1T dilated cardiomyopathy 1EE dilated cardiomyopathy 1BB dilated cardiomyopathy 1FF hereditary spastic paraplegia 30 posterior polymorphous corneal dystrophy 3 inflammatory bowel disease 7 inflammatory bowel disease 17 inflammatory bowel disease 23 inflammatory bowel disease 10 inflammatory bowel disease 9 inflammatory bowel disease 12 inflammatory bowel disease 18 inflammatory bowel disease 5 inflammatory bowel disease 19 inflammatory bowel disease 1 inflammatory bowel disease 13 inflammatory bowel disease 11 inflammatory bowel disease 14 inflammatory bowel disease 16 inflammatory bowel disease 15 inflammatory bowel disease 20 inflammatory bowel disease 2 inflammatory bowel disease 26 inflammatory bowel disease 27 inflammatory bowel disease 4 inflammatory bowel disease 8 inflammatory bowel disease 22 inflammatory bowel disease 6 inflammatory bowel disease 24 familial hemophagocytic lymphohistiocytosis 5 Fanconi anemia complementation group G Fanconi anemia complementation group F Fanconi anemia complementation group N Fanconi anemia complementation group J postural orthostatic tachycardia syndrome camptodactyly-tall stature-scoliosis-hearing loss syndrome hereditary desmoid disease adermatoglyphia Alzheimer's disease 9 fetal akinesia deformation sequence syndrome exudative vitreoretinopathy 4 Gillespie syndrome 46,XX sex reversal 2 46,XX sex reversal 4 46,XY sex reversal 6 46,XY sex reversal 9 46,XY sex reversal 3 46,XY sex reversal 10 syndromic microphthalmia 12 syndromic microphthalmia 14 thrombophilia due to thrombomodulin defect SHOX-related short stature retinitis pigmentosa 86 hereditary combined deficiency of vitamin K-dependent clotting factors distal arthrogryposis type 1C tubulinopathy focal segmental glomerulosclerosis 3 spondylocostal dysostosis 5 age related macular degeneration Alport syndrome Cornelia de Lange syndrome hypophosphatasia Sotos syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome McCune Albright syndrome amelogenesis imperfecta factor XI deficiency chondrodysplasia punctata agammaglobulinemia familial nephrotic syndrome familial Mediterranean fever Noonan syndrome Alexander disease Bartter disease Camurati-Engelmann disease cataract has material basis in gene duplication disease hereditary alpha tryptasemia syndrome