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 |
---|---|---|---|---|---|
C0239946 | Fibrosis, Liver | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0028754 | Obesity | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0023903 | Liver neoplasms | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0023269 | leiomyosarcoma | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0003467 | Anxiety | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0036572 | Seizures | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0520679 | Sleep Apnea, Obstructive | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0011265 | Presenile dementia | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0151313 | Sensory neuropathy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0000768 | Congenital Abnormality | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0028738 | Nystagmus | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C1857276 | Trichohepatoenteric Syndrome | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0009319 | Colitis | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0013336 | Dwarfism | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0235946 | Cerebral atrophy | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0282577 | Congenital Disorders of Glycosylation | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0017168 | Gastroesophageal reflux disease | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0020295 | Hydronephrosis | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0241005 | Creatine phosphokinase serum increased | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0020615 | Hypoglycemia | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C2931010 | Congenital disorder of glycosylation type 2E | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C1384666 | hearing impairment | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0007194 | Hypertrophic Cardiomyopathy | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
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Last updated: August 19, 2024