UniProtKB 238 results
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UniProtKB Entries
Keyword
- 238Top level
- 107DiseaseKeyword ID:KW-9995
- 1Aicardi-Goutieres syndrome<1%
- 2Alzheimer disease1%
- 3Amyloidosis1%
- 1Aortic aneurysm<1%
- 1Autism spectrum disorder<1%
- 3Cardiomyopathy1%
- 5Cataract2%
- 2Ciliopathy1%
- 1Cockayne syndrome<1%
- 1Congenital adrenal hyperplasia<1%
- 1Congenital disorder of glycosylation<1%
- 1Congenital myasthenic syndrome<1%
- 1Corneal dystrophy<1%
- 1Craniosynostosis<1%
- 7Deafness3%
- 1Diabetes mellitus<1%
- 97Disease variant46%
- 8Dwarfism4%
- 1Dyskeratosis congenita<1%
- 1Ectodermal dysplasia<1%
- 1Ehlers-Danlos syndrome<1%
- 7Epilepsy3%
- 1Gangliosidosis<1%
- 1Glaucoma<1%
- 1Glutaricaciduria<1%
- 2Glycogen storage disease1%
- 1Hereditary hemolytic anemia<1%
- 1Hereditary nonpolyposis colorectal cancer<1%
- 1Hirschsprung disease<1%
- 1Ichthyosis<1%
- 11Intellectual disability5%
- 1Intrahepatic cholestasis<1%
- 1Leukodystrophy<1%
- 1Lissencephaly<1%
- 1Mucopolysaccharidosis<1%
- 12Neurodegeneration6%
- 5Neuropathy2%
- 2Osteogenesis imperfecta1%
- 1Osteoporosis<1%
- 1Primary microcephaly<1%
- 6Primary mitochondrial disease3%
- 5Proto-oncogene2%
- 1Rhizomelic chondrodysplasia punctata<1%
- 1Schizophrenia<1%
- 1SCID<1%
- 3Tumor suppressor1%
- 1Xeroderma pigmentosum<1%