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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0033802 | Pseudogout | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
C0033802 | Pseudogout | ANXA5 | 308 | annexin A5 | P08758 |
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 |
C0033805 | Pseudohypoaldosteronism | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
C0033806 | Pseudohypoparathyroidism | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
C0033806 | Pseudohypoparathyroidism | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
C2932715 | Pseudohypoparathyroidism Type 1B | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
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 |
C0033822 | Pseudomyxoma Peritonei | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
C0033822 | Pseudomyxoma Peritonei | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C0033822 | Pseudomyxoma Peritonei | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
C0033822 | Pseudomyxoma Peritonei | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C0033822 | Pseudomyxoma Peritonei | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0033822 | Pseudomyxoma Peritonei | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
C0033822 | Pseudomyxoma Peritonei | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
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 |
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Last updated: August 19, 2024