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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 |
|---|---|---|---|---|---|
| C0003864 | Arthritis | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0003864 | Arthritis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0003864 | Arthritis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0003864 | Arthritis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0003864 | Arthritis | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0003864 | Arthritis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0003864 | Arthritis | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0003860 | Arteritis | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0334533 | Arteriovenous hemangioma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0334533 | Arteriovenous hemangioma | ANXA5 | 308 | annexin A5 | P08758 |
| C0334533 | Arteriovenous hemangioma | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0334533 | Arteriovenous hemangioma | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0334533 | Arteriovenous hemangioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0917804 | Arteriovenous Malformations, Cerebral | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C3665365 | Arteriosclerotic cardiovascular disease, NOS | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C3665365 | Arteriosclerotic cardiovascular disease, NOS | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C3665365 | Arteriosclerotic cardiovascular disease, NOS | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C3665365 | Arteriosclerotic cardiovascular disease, NOS | ACLY | 47 | ATP citrate lyase | P53396 |
| C3665365 | Arteriosclerotic cardiovascular disease, NOS | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0003851 | Arteriosclerosis Obliterans | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0003851 | Arteriosclerosis Obliterans | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0003851 | Arteriosclerosis Obliterans | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0003851 | Arteriosclerosis Obliterans | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0003851 | Arteriosclerosis Obliterans | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0003850 | Arteriosclerosis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
