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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 |
|---|---|---|---|---|---|
| C0017926 | Glycogen Storage Disease Type VII | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0017926 | Glycogen Storage Disease Type VII | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0017926 | Glycogen Storage Disease Type VII | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0017926 | Glycogen Storage Disease Type VII | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0017927 | Glycogen Storage Disease Type VIII | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0017927 | Glycogen Storage Disease Type VIII | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0017980 | Glycosuria, Renal | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0018021 | Goiter | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0018021 | Goiter | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0018021 | Goiter | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0018021 | Goiter | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0018021 | Goiter | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0018021 | Goiter | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0018021 | Goiter | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0018021 | Goiter | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0018021 | Goiter | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0018021 | Goiter | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0018021 | Goiter | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0018021 | Goiter | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0018021 | Goiter | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0018021 | Goiter | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0018021 | Goiter | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0018021 | Goiter | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0018023 | Nodular Goiter | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0018023 | Nodular Goiter | LGALS3 | 3958 | galectin 3 | P17931 |
