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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 |
|---|---|---|---|---|---|
| C0271093 | Stargardt's disease | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271093 | Stargardt's disease | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0271093 | Stargardt's disease | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0271093 | Stargardt's disease | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C1863534 | Stargardt disease 4 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1838644 | Stargardt disease 3 | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1838644 | Stargardt disease 3 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0155360 | Staphyloma posticum | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0038165 | Staphylococcal Scalded Skin Syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0038159 | Staphylococcal Food Poisoning | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C4520822 | Stage 0 Colon Cancer AJCC v6 and v7 | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C4520821 | Stage 0 Breast Cancer AJCC v6 and v7 | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0280856 | Squamous cell carcinoma of vulva | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0280856 | Squamous cell carcinoma of vulva | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0345946 | Squamous cell carcinoma of trachea | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0349566 | Squamous cell carcinoma of tongue | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0349566 | Squamous cell carcinoma of tongue | HK1 | 3098 | hexokinase 1 | P19367 |
| C0349566 | Squamous cell carcinoma of tongue | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0349566 | Squamous cell carcinoma of tongue | LGALS3 | 3958 | galectin 3 | P17931 |
| C0349566 | Squamous cell carcinoma of tongue | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0349566 | Squamous cell carcinoma of tongue | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0349566 | Squamous cell carcinoma of tongue | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0349566 | Squamous cell carcinoma of tongue | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0349566 | Squamous cell carcinoma of tongue | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C0349566 | Squamous cell carcinoma of tongue | DAG1 | 1605 | dystroglycan 1 | Q14118 |
