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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 | 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 |
| C0003537 | Aphasia | CPM | 1368 | carboxypeptidase M | P14384 |
| C0003537 | Aphasia | PRNP | 5621 | prion protein | P04156 |
| C0003537 | Aphasia | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0003537 | Aphasia | PRNP | 5621 | prion protein | F7VJQ1 |
| C1853230 | Aphakia, congenital primary | NTM | 50863 | neurotrimin | Q9P121 |
| C1853230 | Aphakia, congenital primary | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0003509 | Aortitis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0003509 | Aortitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0003509 | Aortitis | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C1260873 | Aortic valve disorder | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1260873 | Aortic valve disorder | KL | 9365 | klotho | Q9UEF7 |
| C1260873 | Aortic valve disorder | ACAN | 176 | aggrecan | P16112 |
