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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 | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0037286 | Skin Neoplasms | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0037286 | Skin Neoplasms | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0037286 | Skin Neoplasms | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| 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 |
| C0346082 | Skin Lymphangiosarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0162819 | Skin Diseases, Vascular | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0162819 | Skin Diseases, Vascular | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0162819 | Skin Diseases, Vascular | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0162819 | Skin Diseases, Vascular | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0037277 | Skin Diseases, Genetic | CHST8 | 64377 | carbohydrate sulfotransferase 8 | Q9H2A9 |
| C0037277 | Skin Diseases, Genetic | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0037268 | Skin Abnormalities | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0037268 | Skin Abnormalities | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0037268 | Skin Abnormalities | B4GALT6 | 9331 | beta-1,4-galactosyltransferase 6 | Q9UBX8 |
| C0037268 | Skin Abnormalities | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0037268 | Skin Abnormalities | HYAL1 | 3373 | hyaluronidase 1 | Q12794 |
| C0037268 | Skin Abnormalities | IL1RAP | 3556 | interleukin 1 receptor accessory protein | Q9NPH3 |
| C0037268 | Skin Abnormalities | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0037268 | Skin Abnormalities | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
