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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 |
|---|---|---|---|---|---|
| C1136033 | Cutaneous Mastocytosis | ENOSF1 | 55556 | enolase superfamily member 1 | Q7L5Y1 |
| C1136033 | Cutaneous Mastocytosis | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C1136033 | Cutaneous Mastocytosis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1136033 | Cutaneous Mastocytosis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1136033 | Cutaneous Mastocytosis | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1136033 | Cutaneous Mastocytosis | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1135993 | Wasting Disease, Chronic | PRNP | 5621 | prion protein | P04156 |
| C1135993 | Wasting Disease, Chronic | PRNP | 5621 | prion protein | F7VJQ1 |
| C1135868 | Gestational Trophoblastic Neoplasms | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C1135868 | Gestational Trophoblastic Neoplasms | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C1135868 | Gestational Trophoblastic Neoplasms | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C1135868 | Gestational Trophoblastic Neoplasms | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C1135868 | Gestational Trophoblastic Neoplasms | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1135868 | Gestational Trophoblastic Neoplasms | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1135868 | Gestational Trophoblastic Neoplasms | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1135868 | Gestational Trophoblastic Neoplasms | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1135868 | Gestational Trophoblastic Neoplasms | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1135196 | Heart Failure, Diastolic | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C1135196 | Heart Failure, Diastolic | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1135191 | Heart Failure, Systolic | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1135191 | Heart Failure, Systolic | LGALS3 | 3958 | galectin 3 | P17931 |
| C1135191 | Heart Failure, Systolic | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C1135191 | Heart Failure, Systolic | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1135191 | Heart Failure, Systolic | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1134719 | Invasive Ductal Breast Carcinoma | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
