UniProtKB 1,876 results
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UniProtKB Entries
Keyword
- 1,876Top level
- 517DiseaseKeyword ID:KW-9995
- 1Age-related macular degeneration<1%
- 2Albinism<1%
- 1Allergen<1%
- 2Alzheimer disease<1%
- 3Amelogenesis imperfecta<1%
- 3Amyloidosis<1%
- 3Aortic aneurysm<1%
- 6Autism spectrum disorder1%
- 11Cardiomyopathy1%
- 7Cataract1%
- 2Chronic granulomatous disease<1%
- 19Ciliopathy2%
- 2Cone-rod dystrophy<1%
- 12Congenital disorder of glycosylation1%
- 1Congenital erythrocytosis<1%
- 3Congenital hypothyroidism<1%
- 5Congenital muscular dystrophy1%
- 7Congenital myasthenic syndrome1%
- 3Corneal dystrophy<1%
- 2Craniosynostosis<1%
- 1Cystinuria<1%
- 32Deafness3%
- 9Diabetes mellitus1%
- 446Disease variant46%
- 16Dwarfism2%
- 1Dyskeratosis congenita<1%
- 9Dystonia1%
- 4Dystroglycanopathy<1%
- 7Ectodermal dysplasia1%
- 1Epidermolysis bullosa<1%
- 34Epilepsy4%
- 1Familial hemophagocytic lymphohistiocytosis<1%
- 1Gangliosidosis<1%
- 1Gaucher disease<1%
- 5Glaucoma1%
- 2Glutaricaciduria<1%
- 2Glycogen storage disease<1%
- 1Hemophilia<1%
- 4Hereditary hemolytic anemia<1%
- 1Hereditary nonpolyposis colorectal cancer<1%
- 2Heterotaxy<1%
- 1Hirschsprung disease<1%
- 1Holoprosencephaly<1%
- 1Hyperlipidemia<1%
- 4Hypogonadotropic hypogonadism<1%
- 10Hypotrichosis1%
- 7Ichthyosis1%
- 56Intellectual disability6%
- 2Intrahepatic cholestasis<1%
- 3Kallmann syndrome<1%
- 1Leber congenital amaurosis<1%
- 8Leukodystrophy1%
- 5Limb-girdle muscular dystrophy1%
- 5Lissencephaly1%
- 2Long QT syndrome<1%
- 2Maple syrup urine disease<1%
- 4Microphthalmia<1%
- 1Mucolipidosis<1%
- 4Mucopolysaccharidosis<1%
- 2Myofibrillar myopathy<1%
- 1Nemaline myopathy<1%
- 2Nephronophthisis<1%
- 48Neurodegeneration5%
- 12Neuropathy1%
- 7Obesity1%
- 1Oncogene<1%
- 7Osteogenesis imperfecta1%
- 2Osteopetrosis<1%
- 2Osteoporosis<1%
- 5Palmoplantar keratoderma1%
- 3Parkinson disease<1%
- 7Parkinsonism1%
- 1Peroxisome biogenesis disorder<1%
- 1Pontocerebellar hypoplasia<1%
- 2Premature ovarian failure<1%
- 2Primary microcephaly<1%
- 24Primary mitochondrial disease2%
- 14Proto-oncogene1%
- 1Pseudohermaphroditism<1%
- 11Retinitis pigmentosa1%
- 2SCID<1%
- 4Thrombophilia<1%
- 17Tumor suppressor2%
- 1Xeroderma pigmentosum<1%