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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 |
|---|---|---|---|---|---|
| C0152427 | Polydactyly | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0152427 | Polydactyly | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0085409 | Polyendocrinopathies, Autoimmune | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0085409 | Polyendocrinopathies, Autoimmune | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0085409 | Polyendocrinopathies, Autoimmune | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0085409 | Polyendocrinopathies, Autoimmune | PC | 5091 | pyruvate carboxylase | P11498 |
| C0085409 | Polyendocrinopathies, Autoimmune | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0085409 | Polyendocrinopathies, Autoimmune | ANXA5 | 308 | annexin A5 | P08758 |
| C0085409 | Polyendocrinopathies, Autoimmune | LCT | 3938 | lactase | P09848 |
| C0085409 | Polyendocrinopathies, Autoimmune | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0085409 | Polyendocrinopathies, Autoimmune | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0085409 | Polyendocrinopathies, Autoimmune | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0085409 | Polyendocrinopathies, Autoimmune | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0085409 | Polyendocrinopathies, Autoimmune | SELE | 6401 | selectin E | P16581 |
| C0085409 | Polyendocrinopathies, Autoimmune | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0085409 | Polyendocrinopathies, Autoimmune | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0085409 | Polyendocrinopathies, Autoimmune | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0085409 | Polyendocrinopathies, Autoimmune | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | LYZ | 4069 | lysozyme | P61626 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | CD1D | 912 | CD1d molecule | P15813 |
