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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 |
|---|---|---|---|---|---|
| C0005745 | Blepharoptosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0005745 | Blepharoptosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0005745 | Blepharoptosis | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0005745 | Blepharoptosis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0005747 | Blepharospasm | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0005747 | Blepharospasm | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0005750 | Blind Loop Syndrome | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0005750 | Blind Loop Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0005750 | Blind Loop Syndrome | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| 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 |
