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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 |
|---|---|---|---|---|---|
| C0442874 | Neuropathy | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0442874 | Neuropathy | LPIN1 | 23175 | lipin 1 | Q14693 |
| C0442874 | Neuropathy | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C0442874 | Neuropathy | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0442874 | Neuropathy | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0442874 | Neuropathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0442874 | Neuropathy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0442874 | Neuropathy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0442874 | Neuropathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0442874 | Neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0442874 | Neuropathy | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0442874 | Neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0432333 | Abnormal dermatoglyphic pattern | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0432333 | Abnormal dermatoglyphic pattern | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0432306 | Ichthyosis Bullosa of Siemens | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0432306 | Ichthyosis Bullosa of Siemens | LCT | 3938 | lactase | P09848 |
| C0432284 | Infantile myofibromatosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0432284 | Infantile myofibromatosis | ACAN | 176 | aggrecan | P16112 |
| C0432283 | Osteoglophonic dwarfism | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0432283 | Osteoglophonic dwarfism | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0432283 | Osteoglophonic dwarfism | CAT | 847 | catalase | P04040 |
| C0432283 | Osteoglophonic dwarfism | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0432283 | Osteoglophonic dwarfism | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0432283 | Osteoglophonic dwarfism | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0432283 | Osteoglophonic dwarfism | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
