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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 |
|---|---|---|---|---|---|
| C0001080 | Achondroplasia | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C2674173 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0152200 | Achromatopsia | STS | 412 | steroid sulfatase | P08842 |
| C0152200 | Achromatopsia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1849792 | Achromatopsia 3 | NYX | 60506 | nyctalopin | Q9GZU5 |
| 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 |
| C0001125 | Acidosis, Lactic | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0001125 | Acidosis, Lactic | FH | 2271 | fumarate hydratase | P07954 |
| C0001125 | Acidosis, Lactic | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0001125 | Acidosis, Lactic | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0001125 | Acidosis, Lactic | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C0001125 | Acidosis, Lactic | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
