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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 | 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 |
| 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 |
| C1849792 | Achromatopsia 3 | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0152200 | Achromatopsia | STS | 412 | steroid sulfatase | P08842 |
| C0152200 | Achromatopsia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C2674173 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| 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 |
| C0265274 | Achondrogenesis, type IB (disorder) | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0265274 | Achondrogenesis, type IB (disorder) | DCN | 1634 | decorin | P07585 |
| C0001079 | Achondrogenesis | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C1321756 | Achalasia | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1321756 | Achalasia | AGA | 175 | aspartylglucosaminidase | P20933 |
