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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 |
|---|---|---|---|---|---|
| C0023234 | Legg-Calve-Perthes Disease | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0023234 | Legg-Calve-Perthes Disease | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0023234 | Legg-Calve-Perthes Disease | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0023234 | Legg-Calve-Perthes Disease | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0023212 | Left-Sided Heart Failure | CS | 1431 | citrate synthase | O75390 |
| C0023212 | Left-Sided Heart Failure | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0023212 | Left-Sided Heart Failure | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0023212 | Left-Sided Heart Failure | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0023212 | Left-Sided Heart Failure | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0023212 | Left-Sided Heart Failure | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0023212 | Left-Sided Heart Failure | CAT | 847 | catalase | P04040 |
| C0023212 | Left-Sided Heart Failure | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0023212 | Left-Sided Heart Failure | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0023212 | Left-Sided Heart Failure | FASN | 2194 | fatty acid synthase | P49327 |
| C0023212 | Left-Sided Heart Failure | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0023212 | Left-Sided Heart Failure | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0023212 | Left-Sided Heart Failure | ACLY | 47 | ATP citrate lyase | P53396 |
| C0023212 | Left-Sided Heart Failure | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0023212 | Left-Sided Heart Failure | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0023212 | Left-Sided Heart Failure | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0023211 | Left Bundle-Branch Block | CALR | 811 | calreticulin | P27797 |
| C0023211 | Left Bundle-Branch Block | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0023195 | Lecithin Acyltransferase Deficiency | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0023186 | Learning Disorders | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0023186 | Learning Disorders | KL | 9365 | klotho | Q9UEF7 |
