UniProtKB 2,262 results
Group by Keyword
UniProtKB Entries
Keyword
- 2,262Top level
- 397DiseaseKeyword ID:KW-9995
- 2Age-related macular degeneration<1%
- 1Aicardi-Goutieres syndrome<1%
- 3Albinism<1%
- 3Allergen<1%
- 2Alzheimer disease<1%
- 2Amelogenesis imperfecta<1%
- 5Amyloidosis1%
- 1Aortic aneurysm<1%
- 1Atrial fibrillation<1%
- 1Atrial septal defect<1%
- 7Autism spectrum disorder1%
- 1Autoimmune encephalomyelitis<1%
- 1Brugada syndrome<1%
- 8Cardiomyopathy1%
- 12Cataract2%
- 10Ciliopathy1%
- 1Cockayne syndrome<1%
- 2Cone-rod dystrophy<1%
- 6Congenital disorder of glycosylation1%
- 2Congenital muscular dystrophy<1%
- 1Congenital myasthenic syndrome<1%
- 2Corneal dystrophy<1%
- 16Deafness2%
- 2Diabetes mellitus<1%
- 2Diamond-Blackfan anemia<1%
- 307Disease variant41%
- 16Dwarfism2%
- 1Dyskeratosis congenita<1%
- 4Dystonia1%
- 2Dystroglycanopathy<1%
- 3Ectodermal dysplasia<1%
- 4Emery-Dreifuss muscular dystrophy1%
- 1Epidermolysis bullosa<1%
- 22Epilepsy3%
- 1Fanconi anemia<1%
- 1Gangliosidosis<1%
- 1Gaucher disease<1%
- 1Glaucoma<1%
- 1Glutaricaciduria<1%
- 3Glycogen storage disease<1%
- 5Hereditary hemolytic anemia1%
- 1Hereditary nonpolyposis colorectal cancer<1%
- 3Hirschsprung disease<1%
- 1Holoprosencephaly<1%
- 1Hypogonadotropic hypogonadism<1%
- 1Hypotrichosis<1%
- 5Ichthyosis1%
- 67Intellectual disability9%
- 1Kallmann syndrome<1%
- 1Leber congenital amaurosis<1%
- 6Leukodystrophy1%
- 3Limb-girdle muscular dystrophy<1%
- 3Lissencephaly<1%
- 1Long QT syndrome<1%
- 2Microphthalmia<1%
- 1Mucopolysaccharidosis<1%
- 1Myofibrillar myopathy<1%
- 1Nemaline myopathy<1%
- 1Nephronophthisis<1%
- 52Neurodegeneration7%
- 17Neuropathy2%
- 3Obesity<1%
- 2Oncogene<1%
- 3Osteogenesis imperfecta<1%
- 2Osteopetrosis<1%
- 1Osteoporosis<1%
- 4Palmoplantar keratoderma1%
- 3Parkinson disease<1%
- 6Parkinsonism1%
- 3Peroxisome biogenesis disorder<1%
- 1Phenylketonuria<1%
- 1Premature ovarian failure<1%
- 1Primary microcephaly<1%
- 33Primary mitochondrial disease4%
- 20Proto-oncogene3%
- 8Retinitis pigmentosa1%
- 3Schizophrenia<1%
- 2SCID<1%
- 2Systemic lupus erythematosus<1%
- 15Tumor suppressor2%
- 2Williams-Beuren syndrome<1%