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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 |
|---|---|---|---|---|---|
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1720189 | Episodic Ataxia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C1720189 | Episodic Ataxia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1720189 | Episodic Ataxia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0339543 | Epiretinal Membrane | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0339543 | Epiretinal Membrane | GFRA2 | 2675 | GDNF family receptor alpha 2 | O00451 |
| C0339543 | Epiretinal Membrane | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0339543 | Epiretinal Membrane | LGALS1 | 3956 | galectin 1 | P09382 |
| C0339543 | Epiretinal Membrane | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0339543 | Epiretinal Membrane | CAT | 847 | catalase | P04040 |
| C0339543 | Epiretinal Membrane | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0339543 | Epiretinal Membrane | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C0339543 | Epiretinal Membrane | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0339543 | Epiretinal Membrane | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1838429 | Epiphyseal dysplasia, multiple, 2 | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0392476 | Epiphyseal dysplasia | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0392476 | Epiphyseal dysplasia | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0392476 | Epiphyseal dysplasia | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0392476 | Epiphyseal dysplasia | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0392476 | Epiphyseal dysplasia | ARSB | 411 | arylsulfatase B | P15848 |
