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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 ▼ |
|---|---|---|---|---|---|
| C0015300 | Exophthalmos | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C2931009 | Congenital disorder of glycosylation type 2D | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0023787 | Lipodystrophy | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0268165 | Primary hyperoxaluria type 2 | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0027709 | Nephrocalcinosis | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0020501 | Primary Hyperoxaluria | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0022650 | Kidney Calculi | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0020500 | Hyperoxaluria | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0392525 | Nephrolithiasis | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0262655 | Recurrent urinary tract infection | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0022661 | Kidney Failure, Chronic | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0376358 | Malignant neoplasm of prostate | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C2931788 | Atypical Hemolytic Uremic Syndrome | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C1565489 | Renal Insufficiency | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0033578 | Prostatic Neoplasms | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0041956 | Ureteral obstruction | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0019061 | Hemolytic-Uremic Syndrome | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0015306 | Hereditary Multiple Exostoses | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0086649 | MPS III C | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0086647 | Mucopolysaccharidosis Type IIIA | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C1561643 | Chronic Kidney Diseases | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0029454 | Osteopetrosis | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0027651 | Neoplasms | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0026703 | Mucopolysaccharidoses | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
