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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 |
|---|---|---|---|---|---|
| C0342642 | Autosomal dominant hypophosphatemic rickets | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| 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 |
| 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 |
| 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 |
| C1275685 | Avellino corneal dystrophy | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1275685 | Avellino corneal dystrophy | SDC1 | 6382 | syndecan 1 | P18827 |
| C1275685 | Avellino corneal dystrophy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| 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 |
| C0270921 | Axonal neuropathy | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0270921 | Axonal neuropathy | PIGB | 9488 | phosphatidylinositol glycan anchor biosynthesis class B | Q92521 |
| C0270921 | Axonal neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0004509 | Azoospermia | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
