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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 |
|---|---|---|---|---|---|
| C0021053 | Immune System Diseases | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0021053 | Immune System Diseases | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
| C0021053 | Immune System Diseases | ARSD | 414 | arylsulfatase D | P51689 |
| C0021053 | Immune System Diseases | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0021053 | Immune System Diseases | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0021053 | Immune System Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0021053 | Immune System Diseases | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0021051 | Immunologic Deficiency Syndromes | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C0021051 | Immunologic Deficiency Syndromes | ST8SIA1 | 6489 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 | Q92185 |
| C0021051 | Immunologic Deficiency Syndromes | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0021051 | Immunologic Deficiency Syndromes | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0021051 | Immunologic Deficiency Syndromes | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0021051 | Immunologic Deficiency Syndromes | ARSA | 410 | arylsulfatase A | P15289 |
| C0021051 | Immunologic Deficiency Syndromes | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0021051 | Immunologic Deficiency Syndromes | HPSE | 10855 | heparanase | Q9Y251 |
| C0021051 | Immunologic Deficiency Syndromes | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0021051 | Immunologic Deficiency Syndromes | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0021051 | Immunologic Deficiency Syndromes | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0021051 | Immunologic Deficiency Syndromes | MAN2B2 | 23324 | mannosidase alpha class 2B member 2 | Q9Y2E5 |
| C0021051 | Immunologic Deficiency Syndromes | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0021051 | Immunologic Deficiency Syndromes | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0021051 | Immunologic Deficiency Syndromes | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0021051 | Immunologic Deficiency Syndromes | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0021051 | Immunologic Deficiency Syndromes | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0021051 | Immunologic Deficiency Syndromes | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
