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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 |
|---|---|---|---|---|---|
| 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 |
| C0751495 | Seizures, Focal | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0751495 | Seizures, Focal | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0751495 | Seizures, Focal | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0751495 | Seizures, Focal | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0751495 | Seizures, Focal | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0751495 | Seizures, Focal | ME1 | 4199 | malic enzyme 1 | P48163 |
| C0751495 | Seizures, Focal | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751495 | Seizures, Focal | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751495 | Seizures, Focal | CNTN2 | 6900 | contactin 2 | Q02246 |
| 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 |
| C1855789 | Self-Healing Collodion Baby | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0751617 | Semilobar Holoprosencephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0036631 | Seminoma | CLGN | 1047 | calmegin | O14967 |
| C0036631 | Seminoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0036631 | Seminoma | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0036631 | Seminoma | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0036631 | Seminoma | ALPP | 250 | alkaline phosphatase, placental | P05187 |
