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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 |
|---|---|---|---|---|---|
| C0751651 | Mitochondrial Diseases | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0751651 | Mitochondrial Diseases | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0751651 | Mitochondrial Diseases | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0751651 | Mitochondrial Diseases | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0751651 | Mitochondrial Diseases | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0751651 | Mitochondrial Diseases | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0751651 | Mitochondrial Diseases | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0751674 | Lymphangioleiomyomatosis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0751674 | Lymphangioleiomyomatosis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0751674 | Lymphangioleiomyomatosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0751674 | Lymphangioleiomyomatosis | LGALS3 | 3958 | galectin 3 | P17931 |
| C0751674 | Lymphangioleiomyomatosis | SELL | 6402 | selectin L | P14151 |
| C0751674 | Lymphangioleiomyomatosis | SFTPD | 6441 | surfactant protein D | P35247 |
| C0751674 | Lymphangioleiomyomatosis | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0751674 | Lymphangioleiomyomatosis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0751674 | Lymphangioleiomyomatosis | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0751674 | Lymphangioleiomyomatosis | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0751674 | Lymphangioleiomyomatosis | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0751674 | Lymphangioleiomyomatosis | PLAAT3 | 11145 | phospholipase A and acyltransferase 3 | P53816 |
| C0751674 | Lymphangioleiomyomatosis | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0751674 | Lymphangioleiomyomatosis | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0751674 | Lymphangioleiomyomatosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751676 | Basal Cell Cancer | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0751676 | Basal Cell Cancer | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0751688 | Malignant Squamous Cell Neoplasm | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
