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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 |
|---|---|---|---|---|---|
| C0270824 | Visual seizure | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0270824 | Visual seizure | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0270824 | Visual seizure | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0270824 | Visual seizure | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0270824 | Visual seizure | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0936215 | Vitamin B 6 Deficiency | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0042850 | Vitamin B Deficiency | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0042870 | Vitamin D Deficiency | GALC | 2581 | galactosylceramidase | P54803 |
| C0042870 | Vitamin D Deficiency | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0042870 | Vitamin D Deficiency | KL | 9365 | klotho | Q9UEF7 |
| C0042870 | Vitamin D Deficiency | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0042870 | Vitamin D Deficiency | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0042870 | Vitamin D Deficiency | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0042870 | Vitamin D Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0042870 | Vitamin D Deficiency | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0042870 | Vitamin D Deficiency | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0042870 | Vitamin D Deficiency | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0042870 | Vitamin D Deficiency | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0042870 | Vitamin D Deficiency | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0042870 | Vitamin D Deficiency | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0042870 | Vitamin D Deficiency | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0042870 | Vitamin D Deficiency | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0042870 | Vitamin D Deficiency | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0042870 | Vitamin D Deficiency | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0042870 | Vitamin D Deficiency | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
