DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
Source | Last Updated |
---|---|
DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID ▼ |
---|---|---|---|---|---|
C1864923 | Northern epilepsy syndrome | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C1866282 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0162672 | MERRF Syndrome | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C1838570 | CEROID LIPOFUSCINOSIS, NEURONAL, 8 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0233844 | Clumsiness | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0085584 | Encephalopathies | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0524851 | Neurodegenerative Disorders | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0002395 | Alzheimer's Disease | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0006111 | Brain Diseases | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0027066 | Myoclonus | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0036572 | Seizures | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0022797 | Adult Neuronal Ceroid Lipofuscinosis | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0007758 | Cerebellar Ataxia | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C3714756 | Intellectual Disability | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0042798 | Low Vision | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0035304 | Retinal Degeneration | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0456909 | Blindness | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0015397 | Disorder of eye | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C1866095 | Deafness, Autosomal Dominant 13 | TECTA | 7007 | tectorin alpha | O75443 |
C1384666 | hearing impairment | TECTA | 7007 | tectorin alpha | O75443 |
C1857276 | Trichohepatoenteric Syndrome | TECTA | 7007 | tectorin alpha | O75443 |
C1832187 | Deafness, Autosomal Dominant 12 | TECTA | 7007 | tectorin alpha | O75443 |
C0339789 | Congenital deafness | TECTA | 7007 | tectorin alpha | O75443 |
C2020284 | Stickler syndrome, type 1 | TECTA | 7007 | tectorin alpha | O75443 |
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Last updated: August 19, 2024