UniProtKB 2,942 results
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UniProtKB Entries
Keyword
- 2,942Top level
- 415DiseaseKeyword ID:KW-9995
- 1Age-related macular degeneration<1%
- 1Aicardi-Goutieres syndrome<1%
- 1Allergen<1%
- 1Alport syndrome<1%
- 3Alzheimer disease<1%
- 1Amelogenesis imperfecta<1%
- 1Amyloidosis<1%
- 4Aortic aneurysm<1%
- 1Asthma<1%
- 8Autism spectrum disorder1%
- 1Bartter syndrome<1%
- 19Cardiomyopathy2%
- 10Cataract1%
- 5Ciliopathy1%
- 1Cockayne syndrome<1%
- 8Congenital disorder of glycosylation1%
- 2Congenital generalized lipodystrophy<1%
- 2Congenital muscular dystrophy<1%
- 1Congenital myasthenic syndrome<1%
- 1Corneal dystrophy<1%
- 3Craniosynostosis<1%
- 2Cushing syndrome<1%
- 23Deafness3%
- 10Diabetes mellitus1%
- 4Diamond-Blackfan anemia<1%
- 325Disease variant39%
- 24Dwarfism3%
- 1Dyskeratosis congenita<1%
- 2Dystonia<1%
- 1Dystroglycanopathy<1%
- 10Ectodermal dysplasia1%
- 2Emery-Dreifuss muscular dystrophy<1%
- 4Epidermolysis bullosa<1%
- 33Epilepsy4%
- 4Fanconi anemia<1%
- 2Glaucoma<1%
- 4Glycogen storage disease<1%
- 1Hereditary hemolytic anemia<1%
- 2Hereditary nonpolyposis colorectal cancer<1%
- 1Heterotaxy<1%
- 2Hirschsprung disease<1%
- 3Hypogonadotropic hypogonadism<1%
- 2Hypotrichosis<1%
- 4Ichthyosis<1%
- 101Intellectual disability12%
- 1Intrahepatic cholestasis<1%
- 2Kallmann syndrome<1%
- 6Leukodystrophy1%
- 3Limb-girdle muscular dystrophy<1%
- 1Lissencephaly<1%
- 1Microphthalmia<1%
- 2Myofibrillar myopathy<1%
- 1Nemaline myopathy<1%
- 45Neurodegeneration5%
- 10Neuropathy1%
- 2Obesity<1%
- 2Oncogene<1%
- 1Osteogenesis imperfecta<1%
- 1Osteopetrosis<1%
- 1Osteoporosis<1%
- 6Palmoplantar keratoderma1%
- 3Parkinson disease<1%
- 3Parkinsonism<1%
- 1Peters anomaly<1%
- 1Premature ovarian failure<1%
- 10Primary microcephaly1%
- 6Primary mitochondrial disease1%
- 42Proto-oncogene5%
- 1Pseudohermaphroditism<1%
- 4Retinitis pigmentosa<1%
- 3SCID<1%
- 1Systemic lupus erythematosus<1%
- 22Tumor suppressor3%
- 3Williams-Beuren syndrome<1%
- 1Xeroderma pigmentosum<1%