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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 |
|---|---|---|---|---|---|
| C0220981 | Metabolic acidosis | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0220981 | Metabolic acidosis | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0220981 | Metabolic acidosis | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0220981 | Metabolic acidosis | FH | 2271 | fumarate hydratase | P07954 |
| C0220981 | Metabolic acidosis | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0220981 | Metabolic acidosis | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0220981 | Metabolic acidosis | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0220981 | Metabolic acidosis | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0220981 | Metabolic acidosis | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0220981 | Metabolic acidosis | LCT | 3938 | lactase | P09848 |
| C0220981 | Metabolic acidosis | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C0220981 | Metabolic acidosis | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0220981 | Metabolic acidosis | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0220981 | Metabolic acidosis | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0220981 | Metabolic acidosis | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0220981 | Metabolic acidosis | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0220981 | Metabolic acidosis | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
| C0220981 | Metabolic acidosis | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0220981 | Metabolic acidosis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0220981 | Metabolic acidosis | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0220981 | Metabolic acidosis | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0220981 | Metabolic acidosis | ALDH6A1 | 4329 | aldehyde dehydrogenase 6 family member A1 | Q02252 |
| C0410530 | Metachondromatosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0410530 | Metachondromatosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0410530 | Metachondromatosis | DPEP1 | 1800 | dipeptidase 1 | P16444 |
