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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 |
|---|---|---|---|---|---|
| C0032580 | Adenomatous Polyposis Coli | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0032580 | Adenomatous Polyposis Coli | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0032580 | Adenomatous Polyposis Coli | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0311361 | Adenomatous goiter | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0311361 | Adenomatous goiter | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0311361 | Adenomatous goiter | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0268124 | Adenosine deaminase deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0085750 | Adenosis of Breast | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C0085750 | Adenosis of Breast | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0085750 | Adenosis of Breast | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0206623 | Adenosquamous carcinoma | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0206623 | Adenosquamous carcinoma | CALR | 811 | calreticulin | P27797 |
| C0206623 | Adenosquamous carcinoma | CLEC10A | 10462 | C-type lectin domain containing 10A | Q8IUN9 |
| C0206623 | Adenosquamous carcinoma | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0206623 | Adenosquamous carcinoma | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0206623 | Adenosquamous carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0206623 | Adenosquamous carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0279557 | Adenosquamous cell lung cancer | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0279557 | Adenosquamous cell lung cancer | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1449720 | Adolescent Gynecomastia | SRGN | 5552 | serglycin | P10124 |
| C0750887 | Adrenal Cancer | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0750887 | Adrenal Cancer | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0750887 | Adrenal Cancer | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0206667 | Adrenal Cortical Adenoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0206667 | Adrenal Cortical Adenoma | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
