Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
DisGeNET
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 |
