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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 |
|---|---|---|---|---|---|
| C0749163 | Supraglottic Squamous Cell Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0748607 | Recurrent seizure | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0748607 | Recurrent seizure | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0748607 | Recurrent seizure | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0748607 | Recurrent seizure | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0748607 | Recurrent seizure | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0748607 | Recurrent seizure | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0748607 | Recurrent seizure | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0748607 | Recurrent seizure | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0748540 | Scleroderma, Limited | CD22 | 933 | CD22 molecule | P20273 |
| C0745103 | Hyperlipoproteinemia Type IIa | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0745103 | Hyperlipoproteinemia Type IIa | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0745103 | Hyperlipoproteinemia Type IIa | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0745103 | Hyperlipoproteinemia Type IIa | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0745103 | Hyperlipoproteinemia Type IIa | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0745103 | Hyperlipoproteinemia Type IIa | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0745103 | Hyperlipoproteinemia Type IIa | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0745103 | Hyperlipoproteinemia Type IIa | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0745103 | Hyperlipoproteinemia Type IIa | ANXA5 | 308 | annexin A5 | P08758 |
| C0745103 | Hyperlipoproteinemia Type IIa | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0745103 | Hyperlipoproteinemia Type IIa | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0745103 | Hyperlipoproteinemia Type IIa | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0745103 | Hyperlipoproteinemia Type IIa | LPL | 4023 | lipoprotein lipase | P06858 |
| C0745103 | Hyperlipoproteinemia Type IIa | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0745103 | Hyperlipoproteinemia Type IIa | SELE | 6401 | selectin E | P16581 |
