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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 |
|---|---|---|---|---|---|
| C0342782 | Depletion of mitochondrial DNA | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0342782 | Depletion of mitochondrial DNA | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0342782 | Depletion of mitochondrial DNA | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0342782 | Depletion of mitochondrial DNA | DGKB | 1607 | diacylglycerol kinase beta | Q9Y6T7 |
| C0342782 | Depletion of mitochondrial DNA | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0342782 | Depletion of mitochondrial DNA | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0342782 | Depletion of mitochondrial DNA | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0342782 | Depletion of mitochondrial DNA | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C2973527 | Dentinogenesis imperfecta without osteogenesis imperfecta | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C0399378 | Dentinogenesis imperfecta - Shield's type III (disorder) | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C0399378 | Dentinogenesis imperfecta - Shield's type III (disorder) | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C0011436 | Dentinogenesis Imperfecta | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C0011432 | Dentin Sensitivity | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0011432 | Dentin Sensitivity | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| 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 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | PRNP | 5621 | prion protein | P04156 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0011334 | Dental caries | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0011334 | Dental caries | AGA | 175 | aspartylglucosaminidase | P20933 |
