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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 |
|---|---|---|---|---|---|
| C4049006 | Selective immunoglobulin A deficiency | AGA | 175 | aspartylglucosaminidase | P20933 |
| C4049006 | Selective immunoglobulin A deficiency | SDC1 | 6382 | syndecan 1 | P18827 |
| C4049006 | Selective immunoglobulin A deficiency | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0751495 | Seizures, Focal | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0751495 | Seizures, Focal | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0751495 | Seizures, Focal | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0751495 | Seizures, Focal | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0751495 | Seizures, Focal | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0751495 | Seizures, Focal | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0751495 | Seizures, Focal | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0751495 | Seizures, Focal | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0751495 | Seizures, Focal | ENO2 | 2026 | enolase 2 | P09104 |
| C0751495 | Seizures, Focal | STT3A | 3703 | STT3 oligosaccharyltransferase complex catalytic subunit A | P46977 |
| C0751495 | Seizures, Focal | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0751495 | Seizures, Focal | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0751495 | Seizures, Focal | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751495 | Seizures, Focal | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0751495 | Seizures, Focal | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0751495 | Seizures, Focal | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0751495 | Seizures, Focal | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0751495 | Seizures, Focal | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751495 | Seizures, Focal | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0751495 | Seizures, Focal | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0751495 | Seizures, Focal | CAT | 847 | catalase | P04040 |
| C0751495 | Seizures, Focal | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
