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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 |
|---|---|---|---|---|---|
| C0022650 | Kidney Calculi | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0022650 | Kidney Calculi | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0022650 | Kidney Calculi | DGKD | 8527 | diacylglycerol kinase delta | Q16760 |
| C0022610 | Kernicterus | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0022610 | Kernicterus | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0022610 | Kernicterus | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0022610 | Kernicterus | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0022610 | Kernicterus | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0022610 | Kernicterus | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0022610 | Kernicterus | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0022610 | Kernicterus | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0022610 | Kernicterus | CAT | 847 | catalase | P04040 |
| C0022603 | Seborrheic keratosis | LGALS3 | 3958 | galectin 3 | P17931 |
| C0022603 | Seborrheic keratosis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0022603 | Seborrheic keratosis | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C0022603 | Seborrheic keratosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0022603 | Seborrheic keratosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0022603 | Seborrheic keratosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0022602 | Actinic keratosis | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0022602 | Actinic keratosis | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0022602 | Actinic keratosis | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0022602 | Actinic keratosis | HK2 | 3099 | hexokinase 2 | P52789 |
| C0022602 | Actinic keratosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0022602 | Actinic keratosis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0022602 | Actinic keratosis | INPP5A | 3632 | inositol polyphosphate-5-phosphatase A | Q14642 |
