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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 ▲ |
|---|---|---|---|---|---|
| C0002170 | Alopecia | ACER1 | 125981 | alkaline ceramidase 1 | Q8TDN7 |
| C0028754 | Obesity | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0524620 | Metabolic Syndrome X | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0020538 | Hypertensive disease | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0030567 | Parkinson Disease | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0007222 | Cardiovascular Diseases | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C3179455 | Niemann-Pick Disease, Type C1 | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0004096 | Asthma | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0002395 | Alzheimer's Disease | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C0699790 | Colon Carcinoma | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
| C0007102 | Malignant tumor of colon | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
| C0025202 | melanoma | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
| C0018378 | Guillain-Barre Syndrome | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
| C0026769 | Multiple Sclerosis | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
| C0003125 | Anorexia Nervosa | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
| C0006142 | Malignant neoplasm of breast | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
| C0013336 | Dwarfism | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
| C0027092 | Myopia | PXYLP1 | 92370 | 2-phosphoxylose phosphatase 1 | Q8TE99 |
| C0014553 | Absence Epilepsy | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0020490 | Hyperopia | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0221356 | Brachycephaly | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0014877 | Esotropia | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0009402 | Colorectal Carcinoma | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
