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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 |
|---|---|---|---|---|---|
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | EFNA5 | 1946 | ephrin A5 | P52803 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1961835 | Gaucher Disease, Type 1 | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C1961835 | Gaucher Disease, Type 1 | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1961835 | Gaucher Disease, Type 1 | PSAP | 5660 | prosaposin | P07602 |
| C1961835 | Gaucher Disease, Type 1 | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C1961835 | Gaucher Disease, Type 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1961835 | Gaucher Disease, Type 1 | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C1961835 | Gaucher Disease, Type 1 | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1968739 | Glycogen Storage Disease IIIA | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C1968740 | Glycogen Storage Disease IIIB | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C1968741 | Glycogen Storage Disease IIIC | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1968741 | Glycogen Storage Disease IIIC | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C1968748 | Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1968949 | Cakut | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1968949 | Cakut | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1968949 | Cakut | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1968949 | Cakut | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1968949 | Cakut | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
