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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 ▲ |
|---|---|---|---|---|---|
| C1306341 | Mental handicap | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0278061 | Abnormal mental state | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0028738 | Nystagmus | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C1384666 | hearing impairment | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0030567 | Parkinson Disease | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0220756 | Niemann-Pick Disease, Type C | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0235946 | Cerebral atrophy | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0021359 | Infertility | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0028754 | Obesity | GPAM | 57678 | glycerol-3-phosphate acyltransferase, mitochondrial | Q9HCL2 |
| C2711227 | Steatohepatitis | GPAM | 57678 | glycerol-3-phosphate acyltransferase, mitochondrial | Q9HCL2 |
| C1306459 | Primary malignant neoplasm | GPAM | 57678 | glycerol-3-phosphate acyltransferase, mitochondrial | Q9HCL2 |
| C0027726 | Nephrotic Syndrome | GPAM | 57678 | glycerol-3-phosphate acyltransferase, mitochondrial | Q9HCL2 |
| C0006826 | Malignant Neoplasms | GPAM | 57678 | glycerol-3-phosphate acyltransferase, mitochondrial | Q9HCL2 |
| C0015695 | Fatty Liver | GPAM | 57678 | glycerol-3-phosphate acyltransferase, mitochondrial | Q9HCL2 |
| C0025202 | melanoma | GPAM | 57678 | glycerol-3-phosphate acyltransferase, mitochondrial | Q9HCL2 |
| C1257763 | Overnutrition | GPAM | 57678 | glycerol-3-phosphate acyltransferase, mitochondrial | Q9HCL2 |
| C0678222 | Breast Carcinoma | GALNT9 | 50614 | polypeptide N-acetylgalactosaminyltransferase 9 | Q9HCQ5 |
| C0027651 | Neoplasms | GALNT9 | 50614 | polypeptide N-acetylgalactosaminyltransferase 9 | Q9HCQ5 |
| C0700095 | Central neuroblastoma | GALNT9 | 50614 | polypeptide N-acetylgalactosaminyltransferase 9 | Q9HCQ5 |
| C0027819 | Neuroblastoma | GALNT9 | 50614 | polypeptide N-acetylgalactosaminyltransferase 9 | Q9HCQ5 |
| C0006142 | Malignant neoplasm of breast | GALNT9 | 50614 | polypeptide N-acetylgalactosaminyltransferase 9 | Q9HCQ5 |
| C0006118 | Brain Neoplasms | CD248 | 57124 | CD248 molecule | Q9HCU0 |
| C0006826 | Malignant Neoplasms | CD248 | 57124 | CD248 molecule | Q9HCU0 |
| C0007102 | Malignant tumor of colon | CD248 | 57124 | CD248 molecule | Q9HCU0 |
| C0025289 | Meningitis | CD248 | 57124 | CD248 molecule | Q9HCU0 |
