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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 |
|---|---|---|---|---|---|
| C0011334 | Dental caries | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0011334 | Dental caries | CD14 | 929 | CD14 molecule | P08571 |
| C0011334 | Dental caries | GALK2 | 2585 | galactokinase 2 | Q01415 |
| C0011334 | Dental caries | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0011334 | Dental caries | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0011334 | Dental caries | ITPKB | 3707 | inositol-trisphosphate 3-kinase B | P27987 |
| C0011334 | Dental caries | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0011334 | Dental caries | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0011334 | Dental caries | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0011334 | Dental caries | MTMR3 | 8897 | myotubularin related protein 3 | Q13615 |
| C0011351 | Dental Enamel Hypoplasia | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0011351 | Dental Enamel Hypoplasia | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0011351 | Dental Enamel Hypoplasia | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0011351 | Dental Enamel Hypoplasia | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0011351 | Dental Enamel Hypoplasia | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0011351 | Dental Enamel Hypoplasia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0011351 | Dental Enamel Hypoplasia | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0011430 | Dentin Dysplasia | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C0011430 | Dentin Dysplasia | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C0011432 | Dentin Sensitivity | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0011432 | Dentin Sensitivity | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0011436 | Dentinogenesis Imperfecta | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C0011570 | Mental Depression | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0011570 | Mental Depression | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0011570 | Mental Depression | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
