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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID ▼ |
---|---|---|---|---|---|
C0281361 | Adenocarcinoma of pancreas | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
C1458155 | Mammary Neoplasms | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
C0600139 | Prostate carcinoma | ST6GALNAC3 | 256435 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 | Q8NDV1 |
C0085207 | Gestational Diabetes | ST6GALNAC3 | 256435 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 | Q8NDV1 |
C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ST6GALNAC3 | 256435 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 | Q8NDV1 |
C0376358 | Malignant neoplasm of prostate | ST6GALNAC3 | 256435 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 | Q8NDV1 |
C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | ST6GALNAC3 | 256435 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 | Q8NDV1 |
C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | GALNT11 | 63917 | polypeptide N-acetylgalactosaminyltransferase 11 | Q8NCW6 |
C0009402 | Colorectal Carcinoma | GALNT11 | 63917 | polypeptide N-acetylgalactosaminyltransferase 11 | Q8NCW6 |
C0023434 | Chronic Lymphocytic Leukemia | GALNT11 | 63917 | polypeptide N-acetylgalactosaminyltransferase 11 | Q8NCW6 |
C0006826 | Malignant Neoplasms | GALNT11 | 63917 | polypeptide N-acetylgalactosaminyltransferase 11 | Q8NCW6 |
C1306459 | Primary malignant neoplasm | GALNT11 | 63917 | polypeptide N-acetylgalactosaminyltransferase 11 | Q8NCW6 |
C3665347 | Visual Impairment | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C0027092 | Myopia | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C0026850 | Muscular Dystrophy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C0018784 | Sensorineural Hearing Loss (disorder) | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C0854723 | Retinal Dystrophies | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C0241005 | Creatine phosphokinase serum increased | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C3554638 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C0086543 | Cataract | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C0699743 | Congenital muscular dystrophy (disorder) | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C0265221 | Walker-Warburg congenital muscular dystrophy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C0678222 | Breast Carcinoma | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C0456909 | Blindness | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
C0036857 | Severe intellectual disability | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
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Last updated: August 19, 2024