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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 |
|---|---|---|---|---|---|
| C0038505 | Sturge-Weber Syndrome | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0038505 | Sturge-Weber Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0038505 | Sturge-Weber Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0206145 | Stunned Myocardium | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0302894 | Stucco keratosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0038478 | Struma Ovarii | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0700635 | Strudwick syndrome | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0600113 | Stromal tumor of ovary | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0600113 | Stromal tumor of ovary | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1318020 | Stromal keratitis | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0155862 | Streptococcal pneumonia | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C0155862 | Streptococcal pneumonia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0155862 | Streptococcal pneumonia | STS | 412 | steroid sulfatase | P08842 |
| C0155862 | Streptococcal pneumonia | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0155862 | Streptococcal pneumonia | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0155862 | Streptococcal pneumonia | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0155862 | Streptococcal pneumonia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| 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 |
