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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 |
|---|---|---|---|---|---|
| C0920296 | Developmental reading disorder | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0920296 | Developmental reading disorder | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0920296 | Developmental reading disorder | NCAN | 1463 | neurocan | O14594 |
| C0920296 | Developmental reading disorder | PTGES3 | 10728 | prostaglandin E synthase 3 | Q15185 |
| C0920296 | Developmental reading disorder | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0920350 | Autoimmune thyroiditis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0920350 | Autoimmune thyroiditis | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0920350 | Autoimmune thyroiditis | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0920350 | Autoimmune thyroiditis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0920350 | Autoimmune thyroiditis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0920350 | Autoimmune thyroiditis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0920350 | Autoimmune thyroiditis | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0920350 | Autoimmune thyroiditis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0920350 | Autoimmune thyroiditis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0920350 | Autoimmune thyroiditis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0920350 | Autoimmune thyroiditis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0920350 | Autoimmune thyroiditis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0920350 | Autoimmune thyroiditis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0936016 | Testicular Feminization | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0936016 | Testicular Feminization | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0936016 | Testicular Feminization | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0936215 | Vitamin B 6 Deficiency | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0936248 | Chondroma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0936248 | Chondroma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0936248 | Chondroma | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
