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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 |
|---|---|---|---|---|---|
| C0022596 | Palmoplantar Keratosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0085574 | Palindromic rheumatism | STS | 412 | steroid sulfatase | P08842 |
| C1720830 | Painful Bladder Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1720830 | Painful Bladder Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1720830 | Painful Bladder Syndrome | ACAN | 176 | aggrecan | P16112 |
| C1720830 | Painful Bladder Syndrome | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C1720830 | Painful Bladder Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1720830 | Painful Bladder Syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1720830 | Painful Bladder Syndrome | SELE | 6401 | selectin E | P16581 |
| C1720830 | Painful Bladder Syndrome | SFTPD | 6441 | surfactant protein D | P35247 |
| C1720830 | Painful Bladder Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1720830 | Painful Bladder Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0391976 | Pain Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0391976 | Pain Disorder | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0030185 | Paget's Disease, Mammary | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0030186 | Paget Disease Extramammary | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0030186 | Paget Disease Extramammary | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0030186 | Paget Disease Extramammary | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0030186 | Paget Disease Extramammary | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0030186 | Paget Disease Extramammary | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0030186 | Paget Disease Extramammary | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0030186 | Paget Disease Extramammary | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C0030186 | Paget Disease Extramammary | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0030186 | Paget Disease Extramammary | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0030186 | Paget Disease Extramammary | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
