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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 |
|---|---|---|---|---|---|
| C1306459 | Primary malignant neoplasm | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C3161650 | Primary immunoglobulin A nephropathy (disorder) | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3161650 | Primary immunoglobulin A nephropathy (disorder) | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0948896 | Primary hypogonadism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0948896 | Primary hypogonadism | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0948896 | Primary hypogonadism | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0948896 | Primary hypogonadism | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0948896 | Primary hypogonadism | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0948896 | Primary hypogonadism | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C3150878 | Primary hyperoxaluria type III | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0268165 | Primary hyperoxaluria type 2 | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0268165 | Primary hyperoxaluria type 2 | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0149896 | Primary gout | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0149896 | Primary gout | CD14 | 929 | CD14 molecule | P08571 |
| C0149896 | Primary gout | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0149896 | Primary gout | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0149896 | Primary gout | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1335473 | Primary chondrosarcoma of bone | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1335473 | Primary chondrosarcoma of bone | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0240803 | Primary cerebral lymphoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0280803 | Primary central nervous system lymphoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0280803 | Primary central nervous system lymphoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0280803 | Primary central nervous system lymphoma | CANX | 821 | calnexin | P27824 |
| C0280803 | Primary central nervous system lymphoma | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0280803 | Primary central nervous system lymphoma | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
