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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 |
|---|---|---|---|---|---|
| C0038379 | Strabismus | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0038379 | Strabismus | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0038379 | Strabismus | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0038379 | Strabismus | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0038379 | Strabismus | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0038379 | Strabismus | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0038379 | Strabismus | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0038379 | Strabismus | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0038379 | Strabismus | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0038379 | Strabismus | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0038379 | Strabismus | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0038379 | Strabismus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0038379 | Strabismus | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0038379 | Strabismus | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0038379 | Strabismus | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0206733 | Strawberry nevus of skin | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
| C0206733 | Strawberry nevus of skin | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0206733 | Strawberry nevus of skin | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0206733 | Strawberry nevus of skin | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0206733 | Strawberry nevus of skin | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0206733 | Strawberry nevus of skin | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0206733 | Strawberry nevus of skin | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0206733 | Strawberry nevus of skin | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0206733 | Strawberry nevus of skin | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0206733 | Strawberry nevus of skin | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
