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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 |
|---|---|---|---|---|---|
| C3489532 | Cone-Rod Dystrophy 2 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3489532 | Cone-Rod Dystrophy 2 | RGMA | 56963 | repulsive guidance molecule BMP co-receptor a | Q96B86 |
| C3489532 | Cone-Rod Dystrophy 2 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C3489532 | Cone-Rod Dystrophy 2 | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C3489532 | Cone-Rod Dystrophy 2 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3489532 | Cone-Rod Dystrophy 2 | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C3489532 | Cone-Rod Dystrophy 2 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3489532 | Cone-Rod Dystrophy 2 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3489532 | Cone-Rod Dystrophy 2 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3489532 | Cone-Rod Dystrophy 2 | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0339537 | Cone monochromatism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0009663 | Condylomata Acuminata | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0009663 | Condylomata Acuminata | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0009663 | Condylomata Acuminata | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0009663 | Condylomata Acuminata | STS | 412 | steroid sulfatase | P08842 |
| 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 |
| C0149654 | Conduct Disorder | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0149654 | Conduct Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0149654 | Conduct Disorder | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0149654 | Conduct Disorder | EFNA5 | 1946 | ephrin A5 | P52803 |
