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 |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0242459 | Simple Pulmonary Eosinophilia | CEL | 1056 | carboxyl ester lipase | P19835 |
C0242459 | Simple Pulmonary Eosinophilia | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
C0242473 | Anus Prolapse | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
C0242490 | Enthesopathy | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
C0242526 | Gonadal Dysgenesis, 45,X | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
C0242526 | Gonadal Dysgenesis, 45,X | CAT | 847 | catalase | P04040 |
C0242584 | Autoimmune thrombocytopenia | HPSE | 10855 | heparanase | Q9Y251 |
C0242584 | Autoimmune thrombocytopenia | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
C0242584 | Autoimmune thrombocytopenia | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
C0242584 | Autoimmune thrombocytopenia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
C0242584 | Autoimmune thrombocytopenia | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
C0242584 | Autoimmune thrombocytopenia | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
C0242584 | Autoimmune thrombocytopenia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
C0242584 | Autoimmune thrombocytopenia | CD72 | 971 | CD72 molecule | P21854 |
C0242584 | Autoimmune thrombocytopenia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0242597 | Leukocyte-Adhesion Deficiency Syndrome | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
C0242666 | Protein S Deficiency | GLA | 2717 | galactosidase alpha | P06280 |
C0242770 | Bronchiolitis Obliterans Organizing Pneumonia | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
C0242852 | Proliferative vitreoretinopathy | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
C0242852 | Proliferative vitreoretinopathy | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
C0242852 | Proliferative vitreoretinopathy | DCN | 1634 | decorin | P07585 |
C0242852 | Proliferative vitreoretinopathy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0242852 | Proliferative vitreoretinopathy | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
C0242852 | Proliferative vitreoretinopathy | LGALS3 | 3958 | galectin 3 | P17931 |
C0242852 | Proliferative vitreoretinopathy | LGALS1 | 3956 | galectin 1 | P09382 |
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Last updated: August 19, 2024