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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 ▼ |
|---|---|---|---|---|---|
| C0008925 | Cleft Palate | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0008497 | Choriocarcinoma | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023448 | Lymphoid leukemia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0699885 | Carcinoma of bladder | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0018784 | Sensorineural Hearing Loss (disorder) | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0037274 | Dermatologic disorders | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0013604 | Edema | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0009402 | Colorectal Carcinoma | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C0005695 | Bladder Neoplasm | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C0005684 | Malignant neoplasm of urinary bladder | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C0345904 | Malignant neoplasm of liver | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C0699885 | Carcinoma of bladder | PGM5 | 5239 | phosphoglucomutase 5 | Q15124 |
| C3714756 | Intellectual Disability | PAFAH1B3 | 5050 | platelet activating factor acetylhydrolase 1b catalytic subunit 3 | Q15102 |
| C0025362 | Mental Retardation | PAFAH1B3 | 5050 | platelet activating factor acetylhydrolase 1b catalytic subunit 3 | Q15102 |
| C0036572 | Seizures | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C2239176 | Liver carcinoma | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0282528 | Peroxisomal Disorders | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0400966 | Non-alcoholic Fatty Liver Disease | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0025517 | Metabolic Diseases | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0015695 | Fatty Liver | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C1849678 | Peroxisomal ACYL-COA oxidase deficiency | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C2711227 | Steatohepatitis | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0452138 | Sensorineural hearing loss, bilateral | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0344315 | Depressed mood | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
