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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 |
|---|---|---|---|---|---|
| C2939447 | Right ventricular failure | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C2939174 | Medullary cystic disease | UMOD | 7369 | uromodulin | P07911 |
| C2937421 | Prostatic Hyperplasia | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C2937421 | Prostatic Hyperplasia | LGALS8 | 3964 | galectin 8 | O00214 |
| C2937421 | Prostatic Hyperplasia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C2937421 | Prostatic Hyperplasia | VCAN | 1462 | versican | P13611 |
| C2937421 | Prostatic Hyperplasia | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C2937421 | Prostatic Hyperplasia | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C2937421 | Prostatic Hyperplasia | ALOX15B | 247 | arachidonate 15-lipoxygenase type B | O15296 |
| C2937421 | Prostatic Hyperplasia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2937421 | Prostatic Hyperplasia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2937421 | Prostatic Hyperplasia | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C2937421 | Prostatic Hyperplasia | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C2937421 | Prostatic Hyperplasia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2937421 | Prostatic Hyperplasia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2937421 | Prostatic Hyperplasia | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C2937421 | Prostatic Hyperplasia | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C2937365 | Recurrent aphthous ulcer | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | GPC3 | 2719 | glypican 3 | P51654 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | HK2 | 3099 | hexokinase 2 | P52789 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
