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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 |
|---|---|---|---|---|---|
| C0009663 | Condylomata Acuminata | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0009663 | Condylomata Acuminata | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0009663 | Condylomata Acuminata | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0009663 | Condylomata Acuminata | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0009663 | Condylomata Acuminata | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0009663 | Condylomata Acuminata | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0009595 | Obsessive-Compulsive Personality | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0009595 | Obsessive-Compulsive Personality | ACAN | 176 | aggrecan | P16112 |
| C0009460 | Communication impairment | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0009460 | Communication impairment | ARSD | 414 | arylsulfatase D | P51689 |
| C0009451 | Communicating Hydrocephalus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0009451 | Communicating Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0009447 | Common Variable Immunodeficiency | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0009447 | Common Variable Immunodeficiency | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0009447 | Common Variable Immunodeficiency | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0009447 | Common Variable Immunodeficiency | SDC1 | 6382 | syndecan 1 | P18827 |
| C0009447 | Common Variable Immunodeficiency | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C0009447 | Common Variable Immunodeficiency | CD38 | 952 | CD38 molecule | P28907 |
| C0009447 | Common Variable Immunodeficiency | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0009447 | Common Variable Immunodeficiency | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0009447 | Common Variable Immunodeficiency | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0009447 | Common Variable Immunodeficiency | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0009447 | Common Variable Immunodeficiency | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0009447 | Common Variable Immunodeficiency | CD1D | 912 | CD1d molecule | P15813 |
| C0009447 | Common Variable Immunodeficiency | CD14 | 929 | CD14 molecule | P08571 |
