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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 |
|---|---|---|---|---|---|
| C0266483 | Pachygyria | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0032285 | Pneumonia | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1879312 | Agyria | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3714756 | Intellectual Disability | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0266551 | Congenital coloboma of iris | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3553813 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0010417 | Cryptorchidism | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0241005 | Creatine phosphokinase serum increased | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0025958 | Microcephaly | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0025202 | melanoma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0376358 | Malignant neoplasm of prostate | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0600139 | Prostate carcinoma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0004096 | Asthma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0027651 | Neoplasms | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0013274 | Patent ductus arteriosus | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0026764 | Multiple Myeloma | CRYBG1 | 202 | crystallin beta-gamma domain containing 1 | Q9Y4K1 |
| C0006826 | Malignant Neoplasms | CRYBG3 | 131544 | crystallin beta-gamma domain containing 3 | Q68DQ2 |
| C0027651 | Neoplasms | CRYBG3 | 131544 | crystallin beta-gamma domain containing 3 | Q68DQ2 |
| C1306459 | Primary malignant neoplasm | CRYBG3 | 131544 | crystallin beta-gamma domain containing 3 | Q68DQ2 |
| C0684249 | Carcinoma of lung | CRYBG3 | 131544 | crystallin beta-gamma domain containing 3 | Q68DQ2 |
| C0011991 | Diarrhea | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0678222 | Breast Carcinoma | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0017536 | Giardiasis | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
