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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 |
|---|---|---|---|---|---|
| C0086873 | Pseudopelade | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0086873 | Pseudopelade | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0086873 | Pseudopelade | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0033835 | Pseudopseudohypoparathyroidism | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0033835 | Pseudopseudohypoparathyroidism | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0033845 | Pseudotumor Cerebri | PARP4 | 143 | poly(ADP-ribose) polymerase family member 4 | Q9UKK3 |
| C0033845 | Pseudotumor Cerebri | ENO2 | 2026 | enolase 2 | P09104 |
| C0033845 | Pseudotumor Cerebri | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0033847 | Pseudoxanthoma Elasticum | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0033847 | Pseudoxanthoma Elasticum | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0033847 | Pseudoxanthoma Elasticum | GLA | 2717 | galactosidase alpha | P06280 |
| C0033847 | Pseudoxanthoma Elasticum | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0033847 | Pseudoxanthoma Elasticum | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0033847 | Pseudoxanthoma Elasticum | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0033847 | Pseudoxanthoma Elasticum | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0033847 | Pseudoxanthoma Elasticum | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0033847 | Pseudoxanthoma Elasticum | SELE | 6401 | selectin E | P16581 |
| C0033847 | Pseudoxanthoma Elasticum | SELP | 6403 | selectin P | P16109 |
| C0033847 | Pseudoxanthoma Elasticum | SELL | 6402 | selectin L | P14151 |
| C0033847 | Pseudoxanthoma Elasticum | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0033847 | Pseudoxanthoma Elasticum | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1867450 | Pseudoxanthoma Elasticum, Incomplete | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C1867450 | Pseudoxanthoma Elasticum, Incomplete | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0033860 | Psoriasis | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0033860 | Psoriasis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
