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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 |
|---|---|---|---|---|---|
| C2746066 | Combined D-2- and L-2-hydroxyglutaric aciduria | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C2748502 | CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS | DCN | 1634 | decorin | P07585 |
| C2748515 | Spondyloepimetaphyseal Dysplasia, Pakistani Type | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C2748516 | Spondylodysplasia And Premature Pubarche | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C2748536 | Leukocyte Adhesion Deficiency, Type III | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C2748542 | CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C2748542 | CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C2748572 | SeSAME syndrome | PI4KB | 5298 | phosphatidylinositol 4-kinase beta | Q9UBF8 |
| C2748910 | Rett Syndrome, Atypical | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C2749240 | Vater Association With Macrocephaly And Ventriculomegaly | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2749283 | Gm2-Gangliosidosis, Variant B1 | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C2749283 | Gm2-Gangliosidosis, Variant B1 | OGA | 10724 | O-GlcNAcase | O60502 |
| C2749283 | Gm2-Gangliosidosis, Variant B1 | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C2749685 | CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C2749864 | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C2749864 | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C2750078 | Hypophosphatemic Rickets, Autosomal Recessive, 2 | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C2750220 | Karak Syndrome | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C2750440 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C2750440 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C2750440 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C2750440 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C2750440 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C2750440 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | LPL | 4023 | lipoprotein lipase | P06858 |
| C2750440 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | ACO1 | 48 | aconitase 1 | P21399 |
