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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 |
|---|---|---|---|---|---|
| C0020445 | Hypercholesterolemia, Familial | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0020445 | Hypercholesterolemia, Familial | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0020445 | Hypercholesterolemia, Familial | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0020445 | Hypercholesterolemia, Familial | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0020441 | Hypercementosis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0020438 | Hypercalciuria | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0020438 | Hypercalciuria | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0020438 | Hypercalciuria | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0020438 | Hypercalciuria | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0020437 | Hypercalcemia | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0020437 | Hypercalcemia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0020437 | Hypercalcemia | KL | 9365 | klotho | Q9UEF7 |
| C0020437 | Hypercalcemia | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0020437 | Hypercalcemia | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0020437 | Hypercalcemia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020437 | Hypercalcemia | FH | 2271 | fumarate hydratase | P07954 |
| C0020437 | Hypercalcemia | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0020437 | Hypercalcemia | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0020437 | Hypercalcemia | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0020437 | Hypercalcemia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0020437 | Hypercalcemia | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0020437 | Hypercalcemia | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0020437 | Hypercalcemia | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0020437 | Hypercalcemia | MDH2 | 4191 | malate dehydrogenase 2 | P40926 |
| C0020437 | Hypercalcemia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
