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 |
---|---|---|---|---|---|
C2676033 | Hepatoblastoma Caused By Somatic Mutation | GPC3 | 2719 | glypican 3 | P51654 |
C2676033 | Hepatoblastoma Caused By Somatic Mutation | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
C2676033 | Hepatoblastoma Caused By Somatic Mutation | RGN | 9104 | regucalcin | Q15493 |
C2676033 | Hepatoblastoma Caused By Somatic Mutation | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C2676033 | Hepatoblastoma Caused By Somatic Mutation | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C2676272 | Alopecia, Androgenetic, 3 | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
C2677567 | DYSTONIA 16 (disorder) | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
C2677586 | Spastic Paraplegia 39, Autosomal Recessive | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C2677590 | Congenital Disorder Of Glycosylation, Type In | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C2677590 | Congenital Disorder Of Glycosylation, Type In | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
C2677590 | Congenital Disorder Of Glycosylation, Type In | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
C2677590 | Congenital Disorder Of Glycosylation, Type In | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
C2677590 | Congenital Disorder Of Glycosylation, Type In | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
C2678038 | Alopecia, Androgenetic, 2 | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
C2678061 | SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
C2678065 | Myofibrillar Myopathy | CS | 1431 | citrate synthase | O75390 |
C2678065 | Myofibrillar Myopathy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C2678439 | CRANIOOSTEOARTHROPATHY | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
C2697932 | Loeys-Dietz Syndrome | IDUA | 3425 | alpha-L-iduronidase | P35475 |
C2697932 | Loeys-Dietz Syndrome | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
C2700553 | Omenn Syndrome | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
C2703042 | malignant neoplasm of bone marrow | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
C2711227 | Steatohepatitis | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
C2711227 | Steatohepatitis | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
C2711227 | Steatohepatitis | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
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Last updated: August 19, 2024