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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 |
|---|---|---|---|---|---|
| C0033822 | Pseudomyxoma Peritonei | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0033822 | Pseudomyxoma Peritonei | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C3494506 | Pseudohypoparathyroidism, Type Ia | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C3494506 | Pseudohypoparathyroidism, Type Ia | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C3494506 | Pseudohypoparathyroidism, Type Ia | GPC1 | 2817 | glypican 1 | P35052 |
| C2932715 | Pseudohypoparathyroidism Type 1B | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0033806 | Pseudohypoparathyroidism | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0033806 | Pseudohypoparathyroidism | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0033805 | Pseudohypoaldosteronism | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0033804 | Pseudohermaphroditism | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0033804 | Pseudohermaphroditism | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C0033804 | Pseudohermaphroditism | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C0033804 | Pseudohermaphroditism | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0033804 | Pseudohermaphroditism | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0033804 | Pseudohermaphroditism | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0033804 | Pseudohermaphroditism | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0033802 | Pseudogout | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0033802 | Pseudogout | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0033802 | Pseudogout | ANXA5 | 308 | annexin A5 | P08758 |
| C0752208 | Pseudodystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0033790 | Pseudobulbar Palsy | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0033790 | Pseudobulbar Palsy | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C1855255 | Pseudoarylsulfatase A Deficiency | ARSA | 410 | arylsulfatase A | P15289 |
| C0524524 | Pseudoaphakia | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0524524 | Pseudoaphakia | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
