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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 |
|---|---|---|---|---|---|
| C0341106 | Eosinophilic esophagitis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0341703 | Adult Fanconi syndrome | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0341703 | Adult Fanconi syndrome | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0341703 | Adult Fanconi syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0341703 | Adult Fanconi syndrome | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0341703 | Adult Fanconi syndrome | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0341703 | Adult Fanconi syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0341747 | Detrusor and sphincter dyssynergia | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0341823 | Epithelial tumor of ovary | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0341858 | Endometriosis of uterus | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0341858 | Endometriosis of uterus | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0341858 | Endometriosis of uterus | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0341858 | Endometriosis of uterus | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0341858 | Endometriosis of uterus | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0341858 | Endometriosis of uterus | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0341858 | Endometriosis of uterus | SELL | 6402 | selectin L | P14151 |
| C0341858 | Endometriosis of uterus | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0341858 | Endometriosis of uterus | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0341858 | Endometriosis of uterus | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0341858 | Endometriosis of uterus | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0341858 | Endometriosis of uterus | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0341858 | Endometriosis of uterus | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0341858 | Endometriosis of uterus | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0341858 | Endometriosis of uterus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0341858 | Endometriosis of uterus | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
