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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 ▼ |
|---|---|---|---|---|---|
| C0011854 | Diabetes Mellitus, Insulin-Dependent | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0524851 | Neurodegenerative Disorders | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C3276706 | Small Fiber Neuropathy | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0023449 | Acute lymphocytic leukemia | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0007786 | Brain Ischemia | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0006826 | Malignant Neoplasms | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0027651 | Neoplasms | IZUMO1R | 390243 | IZUMO1 receptor, JUNO | A6ND01 |
| C0005586 | Bipolar Disorder | SLC35F4 | 341880 | solute carrier family 35 member F4 | A4IF30 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | SLC35F4 | 341880 | solute carrier family 35 member F4 | A4IF30 |
| C0376358 | Malignant neoplasm of prostate | KLRG2 | 346689 | killer cell lectin like receptor G2 | A4D1S0 |
| C0009451 | Communicating Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3553330 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0026848 | Myopathy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C4015095 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0010038 | Corneal Opacity | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0266544 | Microcornea | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0020256 | Congenital Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0015393 | Eye Abnormalities | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0026010 | Microphthalmos | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0699743 | Congenital muscular dystrophy (disorder) | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
