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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 |
|---|---|---|---|---|---|
| C1335975 | Skull Base Chordoma | LGALS9 | 3965 | galectin 9 | O00182 |
| C1335975 | Skull Base Chordoma | LGALS3 | 3958 | galectin 3 | P17931 |
| C1335975 | Skull Base Chordoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1335975 | Skull Base Chordoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1335975 | Skull Base Chordoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1335975 | Skull Base Chordoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0037293 | Skin tag | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0037293 | Skin tag | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0699893 | Skin carcinoma | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0699893 | Skin carcinoma | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0699893 | Skin carcinoma | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0699893 | Skin carcinoma | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0699893 | Skin carcinoma | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0699893 | Skin carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0699893 | Skin carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0699893 | Skin carcinoma | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0699893 | Skin carcinoma | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0699893 | Skin carcinoma | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0699893 | Skin carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0699893 | Skin carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0699893 | Skin carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0334342 | Skin appendage adenoma | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0037299 | Skin Ulcer | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0037299 | Skin Ulcer | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0037299 | Skin Ulcer | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
