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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 ▼ |
|---|---|---|---|---|---|
| C0027819 | Neuroblastoma | GALNT9 | 50614 | polypeptide N-acetylgalactosaminyltransferase 9 | Q9HCQ5 |
| C0006142 | Malignant neoplasm of breast | GALNT9 | 50614 | polypeptide N-acetylgalactosaminyltransferase 9 | Q9HCQ5 |
| 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 |
| C0037773 | Spastic Paraplegia, Hereditary | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0036439 | Scoliosis, unspecified | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C2828721 | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0018784 | Sensorineural Hearing Loss (disorder) | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0027651 | Neoplasms | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0021364 | Male infertility | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0010674 | Cystic Fibrosis | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0017205 | Gaucher Disease | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0034152 | Henoch-Schoenlein Purpura | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0020179 | Huntington Disease | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0017601 | Glaucoma | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0037772 | Spastic Paraplegia | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0497327 | Dementia | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0007758 | Cerebellar Ataxia | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C1857276 | Trichohepatoenteric Syndrome | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
