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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 |
|---|---|---|---|---|---|
| C0392525 | Nephrolithiasis | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0392525 | Nephrolithiasis | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0392525 | Nephrolithiasis | DGKD | 8527 | diacylglycerol kinase delta | Q16760 |
| C0687120 | Nephronophthisis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0687120 | Nephronophthisis | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0687120 | Nephronophthisis | UMOD | 7369 | uromodulin | P07911 |
| C0687120 | Nephronophthisis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0687120 | Nephronophthisis | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C4551979 | Nephronophthisis 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4551979 | Nephronophthisis 1 | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C4551979 | Nephronophthisis 1 | STS | 412 | steroid sulfatase | P08842 |
| C4551979 | Nephronophthisis 1 | UMOD | 7369 | uromodulin | P07911 |
| C1855681 | Nephronophthisis, familial juvenile | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0242993 | Nephropathia Epidemica | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C2931187 | Nephropathic cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C2931187 | Nephropathic cystinosis | VNN1 | 8876 | vanin 1 | O95497 |
| C2931187 | Nephropathic cystinosis | VNN2 | 8875 | vanin 2 | O95498 |
| C2931187 | Nephropathic cystinosis | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0027719 | Nephrosclerosis | CHGA | 1113 | chromogranin A | P10645 |
| C0027719 | Nephrosclerosis | DCN | 1634 | decorin | P07585 |
| C0027719 | Nephrosclerosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0027719 | Nephrosclerosis | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0027719 | Nephrosclerosis | CYP4A11 | 1579 | cytochrome P450 family 4 subfamily A member 11 | Q02928 |
| C0027719 | Nephrosclerosis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0027720 | Nephrosis | HPSE | 10855 | heparanase | Q9Y251 |
