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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 |
|---|---|---|---|---|---|
| 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 |
| C0001125 | Acidosis, Lactic | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0001125 | Acidosis, Lactic | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0001125 | Acidosis, Lactic | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0001125 | Acidosis, Lactic | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0001125 | Acidosis, Lactic | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0001125 | Acidosis, Lactic | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0001125 | Acidosis, Lactic | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0001125 | Acidosis, Lactic | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0001125 | Acidosis, Lactic | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0001125 | Acidosis, Lactic | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0001125 | Acidosis, Lactic | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0001125 | Acidosis, Lactic | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0001125 | Acidosis, Lactic | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0001125 | Acidosis, Lactic | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0001125 | Acidosis, Lactic | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0001126 | Renal tubular acidosis | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0001126 | Renal tubular acidosis | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0001126 | Renal tubular acidosis | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0001126 | Renal tubular acidosis | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
