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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 |
|---|---|---|---|---|---|
| C0020514 | Hyperprolactinemia | LPL | 4023 | lipoprotein lipase | P06858 |
| C0020514 | Hyperprolactinemia | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C0020514 | Hyperprolactinemia | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0020505 | Hyperphagia | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0020505 | Hyperphagia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0020505 | Hyperphagia | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0020505 | Hyperphagia | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0020503 | Hyperparathyroidism, Secondary | KL | 9365 | klotho | Q9UEF7 |
| C0020503 | Hyperparathyroidism, Secondary | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0020503 | Hyperparathyroidism, Secondary | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0020503 | Hyperparathyroidism, Secondary | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0020503 | Hyperparathyroidism, Secondary | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0020503 | Hyperparathyroidism, Secondary | UMOD | 7369 | uromodulin | P07911 |
| C0020503 | Hyperparathyroidism, Secondary | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0020503 | Hyperparathyroidism, Secondary | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0020503 | Hyperparathyroidism, Secondary | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0020503 | Hyperparathyroidism, Secondary | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0020503 | Hyperparathyroidism, Secondary | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0020503 | Hyperparathyroidism, Secondary | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0020503 | Hyperparathyroidism, Secondary | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0020502 | Hyperparathyroidism | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0020502 | Hyperparathyroidism | KL | 9365 | klotho | Q9UEF7 |
| C0020502 | Hyperparathyroidism | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020502 | Hyperparathyroidism | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0020502 | Hyperparathyroidism | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
