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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 |
|---|---|---|---|---|---|
| C0220704 | Shprintzen syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1865020 | Short QT Syndrome 1 | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0013371 | Shigella Infections | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
| C0013371 | Shigella Infections | GUSB | 2990 | glucuronidase beta | P08236 |
| C0013371 | Shigella Infections | CTSA | 5476 | cathepsin A | P10619 |
| C0013371 | Shigella Infections | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0013371 | Shigella Infections | LYZ | 4069 | lysozyme | P61626 |
| C0013371 | Shigella Infections | CD248 | 57124 | CD248 molecule | Q9HCU0 |
| C0013371 | Shigella Infections | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0013371 | Shigella Infections | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0013371 | Shigella Infections | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0013371 | Shigella Infections | CD48 | 962 | CD48 molecule | P09326 |
| C0013371 | Shigella Infections | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0242342 | Sheehan Syndrome | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0242342 | Sheehan Syndrome | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0036939 | Shared Paranoid Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0036939 | Shared Paranoid Disorder | CALR | 811 | calreticulin | P27797 |
| C0036939 | Shared Paranoid Disorder | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0036939 | Shared Paranoid Disorder | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0036920 | Sezary Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0036920 | Sezary Syndrome | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0036920 | Sezary Syndrome | ANXA5 | 308 | annexin A5 | P08758 |
| C0036920 | Sezary Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0036920 | Sezary Syndrome | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0036920 | Sezary Syndrome | SELL | 6402 | selectin L | P14151 |
