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 |
|---|---|---|---|---|---|
| C0001125 | Acidosis, Lactic | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1857276 | Trichohepatoenteric Syndrome | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0751285 | Maple Syrup Urine Disease, Thiamine Responsive | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0010346 | Crohn Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0243026 | Sepsis | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1621920 | Intermediate Maple Syrup Urine Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C3714756 | Intellectual Disability | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0015934 | Fetal Growth Retardation | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0009324 | Ulcerative Colitis | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1855369 | Maple Syrup Urine Disease, Type IA | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0020615 | Hypoglycemia | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0024776 | Maple Syrup Urine Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C2930990 | Maple syrup urine disease, type 1B | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0238461 | Anaplastic thyroid carcinoma | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0027651 | Neoplasms | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0346647 | Malignant neoplasm of pancreas | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0006826 | Malignant Neoplasms | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C1306459 | Primary malignant neoplasm | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C1970209 | Alzheimer Disease 12 | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0019163 | Hepatitis B | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0268568 | Classic Maple Syrup Urine Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0025322 | Premature Menopause | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C3714756 | Intellectual Disability | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0007570 | Celiac Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0085215 | Ovarian Failure, Premature | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
