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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 |
|---|---|---|---|---|---|
| C0085110 | Severe Combined Immunodeficiency | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0085110 | Severe Combined Immunodeficiency | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0019100 | Severe Dengue | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0019100 | Severe Dengue | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0019100 | Severe Dengue | CLEC5A | 23601 | C-type lectin domain containing 5A | Q9NY25 |
| C0019100 | Severe Dengue | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0019100 | Severe Dengue | CD209 | 30835 | CD209 molecule | Q9NNX6 |
| C0019100 | Severe Dengue | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0019100 | Severe Dengue | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0019100 | Severe Dengue | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C0019100 | Severe Dengue | SELE | 6401 | selectin E | P16581 |
| C0019100 | Severe Dengue | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0019100 | Severe Dengue | CD14 | 929 | CD14 molecule | P08571 |
| C0019100 | Severe Dengue | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0019100 | Severe Dengue | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0410173 | Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0392607 | Severe combined immunodeficiency due to adenosine deaminase deficiency | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0392607 | Severe combined immunodeficiency due to adenosine deaminase deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0392607 | Severe combined immunodeficiency due to adenosine deaminase deficiency | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| 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 |
| C0036857 | Severe intellectual disability | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
