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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 |
|---|---|---|---|---|---|
| C0553723 | Squamous cell carcinoma of skin | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0553723 | Squamous cell carcinoma of skin | CDH13 | 1012 | cadherin 13 | P55290 |
| C0553723 | Squamous cell carcinoma of skin | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0553723 | Squamous cell carcinoma of skin | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0553723 | Squamous cell carcinoma of skin | INPP5A | 3632 | inositol polyphosphate-5-phosphatase A | Q14642 |
| C0553723 | Squamous cell carcinoma of skin | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0553723 | Squamous cell carcinoma of skin | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0553723 | Squamous cell carcinoma of skin | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0553723 | Squamous cell carcinoma of skin | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0553723 | Squamous cell carcinoma of skin | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0553723 | Squamous cell carcinoma of skin | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0553730 | Calcium pyrophosphate deposition disease | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0553730 | Calcium pyrophosphate deposition disease | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0553730 | Calcium pyrophosphate deposition disease | KL | 9365 | klotho | Q9UEF7 |
| C0553730 | Calcium pyrophosphate deposition disease | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0553730 | Calcium pyrophosphate deposition disease | ANXA5 | 308 | annexin A5 | P08758 |
| C0553980 | Endomyocardial Fibrosis | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0553980 | Endomyocardial Fibrosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0553980 | Endomyocardial Fibrosis | SIRT4 | 23409 | sirtuin 4 | Q9Y6E7 |
| C0554101 | Villous atrophy | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0554101 | Villous atrophy | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0554101 | Villous atrophy | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0555198 | Malignant Glioma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0555198 | Malignant Glioma | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0555198 | Malignant Glioma | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
