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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 |
|---|---|---|---|---|---|
| C0037286 | Skin Neoplasms | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0037286 | Skin Neoplasms | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0037286 | Skin Neoplasms | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0037286 | Skin Neoplasms | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0037286 | Skin Neoplasms | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0037286 | Skin Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0347390 | Skin Papilloma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0347390 | Skin Papilloma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| 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 |
| C0037299 | Skin Ulcer | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0037299 | Skin Ulcer | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0037299 | Skin Ulcer | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0037299 | Skin Ulcer | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0037299 | Skin Ulcer | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0037299 | Skin Ulcer | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0037299 | Skin Ulcer | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0037299 | Skin Ulcer | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0037299 | Skin Ulcer | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0037299 | Skin Ulcer | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0334342 | Skin appendage adenoma | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| 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 |
