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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 |
|---|---|---|---|---|---|
| C0745103 | Hyperlipoproteinemia Type IIa | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0745103 | Hyperlipoproteinemia Type IIa | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0745103 | Hyperlipoproteinemia Type IIa | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0745103 | Hyperlipoproteinemia Type IIa | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0745103 | Hyperlipoproteinemia Type IIa | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0745103 | Hyperlipoproteinemia Type IIa | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0745103 | Hyperlipoproteinemia Type IIa | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0745103 | Hyperlipoproteinemia Type IIa | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0748540 | Scleroderma, Limited | CD22 | 933 | CD22 molecule | P20273 |
| 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 |
| C0749163 | Supraglottic Squamous Cell Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0750887 | Adrenal Cancer | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0750887 | Adrenal Cancer | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0750887 | Adrenal Cancer | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0750901 | Alzheimer Disease, Early Onset | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0750901 | Alzheimer Disease, Early Onset | ENO1 | 2023 | enolase 1 | P06733 |
| C0750901 | Alzheimer Disease, Early Onset | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0750901 | Alzheimer Disease, Early Onset | GAPDHS | 26330 | glyceraldehyde-3-phosphate dehydrogenase, spermatogenic | O14556 |
