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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 |
|---|---|---|---|---|---|
| C0005818 | Blood Platelet Disorders | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0005818 | Blood Platelet Disorders | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0005806 | Blood Group Incompatibility | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0005806 | Blood Group Incompatibility | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0005779 | Blood Coagulation Disorders | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0005779 | Blood Coagulation Disorders | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0005779 | Blood Coagulation Disorders | ARSA | 410 | arylsulfatase A | P15289 |
| C0005779 | Blood Coagulation Disorders | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0005779 | Blood Coagulation Disorders | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0005779 | Blood Coagulation Disorders | HPSE | 10855 | heparanase | Q9Y251 |
| C0005779 | Blood Coagulation Disorders | ENO1 | 2023 | enolase 1 | P06733 |
| C0005779 | Blood Coagulation Disorders | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0005779 | Blood Coagulation Disorders | PC | 5091 | pyruvate carboxylase | P11498 |
| C0005779 | Blood Coagulation Disorders | SDC1 | 6382 | syndecan 1 | P18827 |
| C0005779 | Blood Coagulation Disorders | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0005779 | Blood Coagulation Disorders | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0005779 | Blood Coagulation Disorders | LGALS3 | 3958 | galectin 3 | P17931 |
| C0005779 | Blood Coagulation Disorders | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
| C0005779 | Blood Coagulation Disorders | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0005779 | Blood Coagulation Disorders | SELP | 6403 | selectin P | P16109 |
| C0005779 | Blood Coagulation Disorders | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0005779 | Blood Coagulation Disorders | CAT | 847 | catalase | P04040 |
| C0005779 | Blood Coagulation Disorders | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C0005779 | Blood Coagulation Disorders | CD14 | 929 | CD14 molecule | P08571 |
| C0005779 | Blood Coagulation Disorders | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
