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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 |
|---|---|---|---|---|---|
| C0036857 | Severe intellectual disability | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0036857 | Severe intellectual disability | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0036857 | Severe intellectual disability | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0036857 | Severe intellectual disability | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0036857 | Severe intellectual disability | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0036857 | Severe intellectual disability | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0036857 | Severe intellectual disability | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0036857 | Severe intellectual disability | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0036857 | Severe intellectual disability | GCK | 2645 | glucokinase | P35557 |
| C0036857 | Severe intellectual disability | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0036857 | Severe intellectual disability | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0036857 | Severe intellectual disability | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0036857 | Severe intellectual disability | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0036857 | Severe intellectual disability | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0036857 | Severe intellectual disability | ARSD | 414 | arylsulfatase D | P51689 |
| C0036857 | Severe intellectual disability | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0036857 | Severe intellectual disability | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0036857 | Severe intellectual disability | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0036857 | Severe intellectual disability | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C1853118 | Severe congenital neutropenia | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C1853118 | Severe congenital neutropenia | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C1853118 | Severe congenital neutropenia | CD33 | 945 | CD33 molecule | P20138 |
| C1853118 | Severe congenital neutropenia | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C1853118 | Severe congenital neutropenia | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0392607 | Severe combined immunodeficiency due to adenosine deaminase deficiency | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
