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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 |
|---|---|---|---|---|---|
| C0002986 | Fabry Disease | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0002986 | Fabry Disease | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0002986 | Fabry Disease | LGALS3 | 3958 | galectin 3 | P17931 |
| C0002986 | Fabry Disease | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0002986 | Fabry Disease | SELE | 6401 | selectin E | P16581 |
| C0002986 | Fabry Disease | SI | 6476 | sucrase-isomaltase | P14410 |
| C0002986 | Fabry Disease | UMOD | 7369 | uromodulin | P07911 |
| C0002986 | Fabry Disease | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0002986 | Fabry Disease | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0002986 | Fabry Disease | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0002986 | Fabry Disease | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C1850938 | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1856689 | FRIEDREICH ATAXIA 1 | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C1856689 | FRIEDREICH ATAXIA 1 | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1856689 | FRIEDREICH ATAXIA 1 | ACO2 | 50 | aconitase 2 | Q99798 |
| C1856689 | FRIEDREICH ATAXIA 1 | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1856689 | FRIEDREICH ATAXIA 1 | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1856689 | FRIEDREICH ATAXIA 1 | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1856689 | FRIEDREICH ATAXIA 1 | LPL | 4023 | lipoprotein lipase | P06858 |
| C1856689 | FRIEDREICH ATAXIA 1 | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C1856689 | FRIEDREICH ATAXIA 1 | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C1856689 | FRIEDREICH ATAXIA 1 | CAT | 847 | catalase | P04040 |
| C1856689 | FRIEDREICH ATAXIA 1 | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1839780 | FRAGILE X TREMOR/ATAXIA SYNDROME | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C1839780 | FRAGILE X TREMOR/ATAXIA SYNDROME | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
