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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 |
|---|---|---|---|---|---|
| C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | ACO1 | 48 | aconitase 1 | P21399 |
| C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | SIRT4 | 23409 | sirtuin 4 | Q9Y6E7 |
| C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | CYP8B1 | 1582 | cytochrome P450 family 8 subfamily B member 1 | Q9UNU6 |
| C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C3150658 | WARSAW BREAKAGE SYNDROME | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3150730 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C3150736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C3150754 | GLYCOGEN STORAGE DISEASE XV | GYG1 | 2992 | glycogenin 1 | P46976 |
| C3150876 | COG5 congenital disorder of glycosylation | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C3150878 | Primary hyperoxaluria type III | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C3150896 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C3150898 | CARDIOMYOPATHY, DILATED, 1GG | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C3150909 | D-2-HYDROXYGLUTARIC ACIDURIA 2 | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C3150911 | GASTRIC CANCER, INTESTINAL | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C3150911 | GASTRIC CANCER, INTESTINAL | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C3150911 | GASTRIC CANCER, INTESTINAL | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C3150911 | GASTRIC CANCER, INTESTINAL | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C3150911 | GASTRIC CANCER, INTESTINAL | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C3150913 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C3150943 | Long Qt Syndrome 2 | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
| C3150943 | Long Qt Syndrome 2 | ALG10B | 144245 | ALG10 alpha-1,2-glucosyltransferase B | Q5I7T1 |
| C3150943 | Long Qt Syndrome 2 | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
