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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
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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 |
C3150909 | D-2-HYDROXYGLUTARIC ACIDURIA 2 | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
C3150898 | CARDIOMYOPATHY, DILATED, 1GG | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
C3150896 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
C3150878 | Primary hyperoxaluria type III | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
C3150876 | COG5 congenital disorder of glycosylation | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
C3150754 | GLYCOGEN STORAGE DISEASE XV | GYG1 | 2992 | glycogenin 1 | P46976 |
C3150736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
C3150730 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
C3150658 | WARSAW BREAKAGE SYNDROME | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | LPL | 4023 | lipoprotein lipase | P06858 |
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 |
C3150418 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
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Last updated: August 19, 2024