UniProtKB 5,349 results
Group by Keyword
UniProtKB Entries
Keyword
- 5,349Top level
- 1,644DiseaseKeyword ID:KW-9995
- 5Age-related macular degeneration<1%
- 5Aicardi-Goutieres syndrome<1%
- 3AIDS<1%
- 2Albinism<1%
- 7Allergen<1%
- 3Alport syndrome<1%
- 7Alzheimer disease<1%
- 3Amelogenesis imperfecta<1%
- 9Amyloidosis<1%
- 7Aortic aneurysm<1%
- 6Asthma<1%
- 6Atrial fibrillation<1%
- 3Atrial septal defect<1%
- 29Autism spectrum disorder1%
- 4Brugada syndrome<1%
- 35Cardiomyopathy1%
- 24Cataract1%
- 3Chronic granulomatous disease<1%
- 37Ciliopathy1%
- 4Cockayne syndrome<1%
- 5Cone-rod dystrophy<1%
- 11Congenital disorder of glycosylation<1%
- 3Congenital erythrocytosis<1%
- 7Congenital hypothyroidism<1%
- 9Congenital muscular dystrophy<1%
- 6Congenital myasthenic syndrome<1%
- 5Corneal dystrophy<1%
- 11Craniosynostosis<1%
- 5Cushing syndrome<1%
- 95Deafness3%
- 28Diabetes mellitus1%
- 3Diamond-Blackfan anemia<1%
- 1,332Disease variant43%
- 64Dwarfism2%
- 9Dyskeratosis congenita<1%
- 17Dystonia1%
- 4Dystroglycanopathy<1%
- 21Ectodermal dysplasia1%
- 2Ehlers-Danlos syndrome<1%
- 4Emery-Dreifuss muscular dystrophy<1%
- 4Epidermolysis bullosa<1%
- 125Epilepsy4%
- 8Fanconi anemia<1%
- 3Gangliosidosis<1%
- 2Gaucher disease<1%
- 4Glaucoma<1%
- 3Glutaricaciduria<1%
- 12Glycogen storage disease<1%
- 3Hemolytic uremic syndrome<1%
- 2Hemophilia<1%
- 20Hereditary hemolytic anemia1%
- 5Hereditary nonpolyposis colorectal cancer<1%
- 4Hirschsprung disease<1%
- 5Holoprosencephaly<1%
- 7Hypogonadotropic hypogonadism<1%
- 9Hypotrichosis<1%
- 12Ichthyosis<1%
- 292Intellectual disability9%
- 7Intrahepatic cholestasis<1%
- 5Kallmann syndrome<1%
- 9Leber congenital amaurosis<1%
- 17Leukodystrophy1%
- 3Li-Fraumeni syndrome<1%
- 16Limb-girdle muscular dystrophy1%
- 15Lissencephaly<1%
- 6Long QT syndrome<1%
- 2Maple syrup urine disease<1%
- 6Microphthalmia<1%
- 7Mucopolysaccharidosis<1%
- 5Myofibrillar myopathy<1%
- 3Nemaline myopathy<1%
- 8Nephronophthisis<1%
- 164Neurodegeneration5%
- 52Neuropathy2%
- 3Niemann-Pick disease<1%
- 18Obesity1%
- 9Oncogene<1%
- 4Osteogenesis imperfecta<1%
- 6Osteopetrosis<1%
- 5Osteoporosis<1%
- 7Palmoplantar keratoderma<1%
- 12Parkinson disease<1%
- 20Parkinsonism1%
- 4Peroxisome biogenesis disorder<1%
- 2Phenylketonuria<1%
- 5Premature ovarian failure<1%
- 5Primary hypomagnesemia<1%
- 11Primary microcephaly<1%
- 37Primary mitochondrial disease1%
- 106Proto-oncogene3%
- 4Pseudohermaphroditism<1%
- 34Retinitis pigmentosa1%
- 5Schizophrenia<1%
- 12SCID<1%
- 2Stickler syndrome<1%
- 14Systemic lupus erythematosus<1%
- 4Thrombophilia<1%
- 93Tumor suppressor3%
- 10Williams-Beuren syndrome<1%
- 6Xeroderma pigmentosum<1%