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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 |
|---|---|---|---|---|---|
| C2239176 | Liver carcinoma | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0017638 | Glioma | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0036421 | Systemic Scleroderma | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0031485 | Phenylketonurias | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0028754 | Obesity | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0029456 | Osteoporosis | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0006826 | Malignant Neoplasms | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0011644 | Scleroderma | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0010068 | Coronary heart disease | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0010054 | Coronary Arteriosclerosis | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0027651 | Neoplasms | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0751434 | Classical phenylketonuria | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0002895 | Anemia, Sickle Cell | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0302362 | Brucella melitensis infection | OXSM | 54995 | 3-oxoacyl-ACP synthase, mitochondrial | Q9NWU1 |
| C0041296 | Tuberculosis | OXSM | 54995 | 3-oxoacyl-ACP synthase, mitochondrial | Q9NWU1 |
| C0006142 | Malignant neoplasm of breast | OXSM | 54995 | 3-oxoacyl-ACP synthase, mitochondrial | Q9NWU1 |
| C0431375 | Classical Lissencephaly | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C3714756 | Intellectual Disability | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0266463 | Lissencephaly | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0265219 | Miller Dieker syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1848201 | Subcortical Band Heterotopia | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0019621 | Histiocytosis, Langerhans-Cell | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0393699 | Symptomatic Infantile Spasms | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
