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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 |
|---|---|---|---|---|---|
| C0282160 | Aplasia Cutis Congenita | CD14 | 929 | CD14 molecule | P08571 |
| C0282160 | Aplasia Cutis Congenita | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0282160 | Aplasia Cutis Congenita | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0282160 | Aplasia Cutis Congenita | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0282160 | Aplasia Cutis Congenita | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0282160 | Aplasia Cutis Congenita | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0282160 | Aplasia Cutis Congenita | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0282160 | Aplasia Cutis Congenita | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0282160 | Aplasia Cutis Congenita | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0282160 | Aplasia Cutis Congenita | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0282160 | Aplasia Cutis Congenita | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0282160 | Aplasia Cutis Congenita | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0282160 | Aplasia Cutis Congenita | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0282160 | Aplasia Cutis Congenita | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0282160 | Aplasia Cutis Congenita | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0282160 | Aplasia Cutis Congenita | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0282160 | Aplasia Cutis Congenita | DGKZ | 8525 | diacylglycerol kinase zeta | Q13574 |
| C0282160 | Aplasia Cutis Congenita | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0002874 | Aplastic Anemia | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0002874 | Aplastic Anemia | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0002874 | Aplastic Anemia | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0002874 | Aplastic Anemia | LGALS9 | 3965 | galectin 9 | O00182 |
| C0002874 | Aplastic Anemia | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0002874 | Aplastic Anemia | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0002874 | Aplastic Anemia | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
