Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| C2717836 | Steroid Sulfatase Deficiency Disease | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2717836 | Steroid Sulfatase Deficiency Disease | RTN4R | 65078 | reticulon 4 receptor | Q9BZR6 |
| C2717836 | Steroid Sulfatase Deficiency Disease | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C2717836 | Steroid Sulfatase Deficiency Disease | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0038273 | Stereotypic Movement Disorder | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0038273 | Stereotypic Movement Disorder | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0038273 | Stereotypic Movement Disorder | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0038273 | Stereotypic Movement Disorder | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0038273 | Stereotypic Movement Disorder | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0038273 | Stereotypic Movement Disorder | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0038273 | Stereotypic Movement Disorder | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0038273 | Stereotypic Movement Disorder | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0038273 | Stereotypic Movement Disorder | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0038273 | Stereotypic Movement Disorder | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0038273 | Stereotypic Movement Disorder | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0038273 | Stereotypic Movement Disorder | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0038273 | Stereotypic Movement Disorder | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0038273 | Stereotypic Movement Disorder | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0038273 | Stereotypic Movement Disorder | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0038273 | Stereotypic Movement Disorder | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0038273 | Stereotypic Movement Disorder | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
