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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 | 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 |
| C3489793 | 46,XY Sex Reversal 3 | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C3494187 | Factor VIII Deficiency | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C3494187 | Factor VIII Deficiency | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C3494506 | Pseudohypoparathyroidism, Type Ia | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C3494506 | Pseudohypoparathyroidism, Type Ia | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C3494506 | Pseudohypoparathyroidism, Type Ia | GPC1 | 2817 | glypican 1 | P35052 |
| C3494522 | Hypergonadotropic Ovarian Failure, X-Linked | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C3494522 | Hypergonadotropic Ovarian Failure, X-Linked | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C3495417 | Hemifacial microsomia | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C3495427 | Fanconi-Bickel Syndrome | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C3495427 | Fanconi-Bickel Syndrome | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C3495427 | Fanconi-Bickel Syndrome | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C3495427 | Fanconi-Bickel Syndrome | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C3495427 | Fanconi-Bickel Syndrome | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C3495436 | American cutaneous leishmaniasis | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C3495439 | Inflammatory disorder of breast | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C3495489 | Rieger eye malformation sequence | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C3495498 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | CALR3 | 125972 | calreticulin 3 | Q96L12 |
| C3495559 | Juvenile arthritis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
