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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 |
|---|---|---|---|---|---|
| C0000768 | Congenital Abnormality | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0000768 | Congenital Abnormality | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0000768 | Congenital Abnormality | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0000889 | Acanthosis Nigricans | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0000889 | Acanthosis Nigricans | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0000889 | Acanthosis Nigricans | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0000889 | Acanthosis Nigricans | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0001079 | Achondrogenesis | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0001080 | Achondroplasia | DCN | 1634 | decorin | P07585 |
| C0001080 | Achondroplasia | ACAN | 176 | aggrecan | P16112 |
| C0001080 | Achondroplasia | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0001122 | Acidosis | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0001122 | Acidosis | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0001122 | Acidosis | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0001122 | Acidosis | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0001122 | Acidosis | AMT | 275 | aminomethyltransferase | P48728 |
| C0001125 | Acidosis, Lactic | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0001125 | Acidosis, Lactic | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0001125 | Acidosis, Lactic | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0001125 | Acidosis, Lactic | PC | 5091 | pyruvate carboxylase | P11498 |
| C0001125 | Acidosis, Lactic | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0001125 | Acidosis, Lactic | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0001125 | Acidosis, Lactic | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0001125 | Acidosis, Lactic | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0001125 | Acidosis, Lactic | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
