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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 |
|---|---|---|---|---|---|
| C1275685 | Avellino corneal dystrophy | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C1275685 | Avellino corneal dystrophy | CAT | 847 | catalase | P04040 |
| C1275685 | Avellino corneal dystrophy | CD1D | 912 | CD1d molecule | P15813 |
| C1275685 | Avellino corneal dystrophy | LPIN2 | 9663 | lipin 2 | Q92539 |
| C1442965 | Avascular necrosis of the capital femoral epiphysis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1442965 | Avascular necrosis of the capital femoral epiphysis | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C1442965 | Avascular necrosis of the capital femoral epiphysis | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0027543 | Avascular necrosis of bone | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0027543 | Avascular necrosis of bone | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0027543 | Avascular necrosis of bone | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0027543 | Avascular necrosis of bone | ARSB | 411 | arylsulfatase B | P15848 |
| C0027543 | Avascular necrosis of bone | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0027543 | Avascular necrosis of bone | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0027543 | Avascular necrosis of bone | CD14 | 929 | CD14 molecule | P08571 |
| C0342643 | Autosomal recessive hypophosphatemic vitamin D refractory rickets | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0342643 | Autosomal recessive hypophosphatemic vitamin D refractory rickets | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0342643 | Autosomal recessive hypophosphatemic vitamin D refractory rickets | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0342642 | Autosomal dominant hypophosphatemic rickets | GALNT8 | 26290 | polypeptide N-acetylgalactosaminyltransferase 8 | Q9NY28 |
| C0342642 | Autosomal dominant hypophosphatemic rickets | KLB | 152831 | klotho beta | Q86Z14 |
| C0342642 | Autosomal dominant hypophosphatemic rickets | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C4048195 | Autosomal dominant hypocalcemia | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C4048195 | Autosomal dominant hypocalcemia | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C4048195 | Autosomal dominant hypocalcemia | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0085548 | Autosomal Recessive Polycystic Kidney Disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0085548 | Autosomal Recessive Polycystic Kidney Disease | CYP4A22 | 284541 | cytochrome P450 family 4 subfamily A member 22 | Q5TCH4 |
