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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 |
|---|---|---|---|---|---|
| C0086795 | Pfaundler-Hurler Syndrome | GUSB | 2990 | glucuronidase beta | P08236 |
| C0086795 | Pfaundler-Hurler Syndrome | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0086795 | Pfaundler-Hurler Syndrome | ARSB | 411 | arylsulfatase B | P15848 |
| C0086795 | Pfaundler-Hurler Syndrome | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C0086795 | Pfaundler-Hurler Syndrome | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0086795 | Pfaundler-Hurler Syndrome | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0086795 | Pfaundler-Hurler Syndrome | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0086795 | Pfaundler-Hurler Syndrome | CTSA | 5476 | cathepsin A | P10619 |
| C0086795 | Pfaundler-Hurler Syndrome | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0086795 | Pfaundler-Hurler Syndrome | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0086795 | Pfaundler-Hurler Syndrome | CAT | 847 | catalase | P04040 |
| C0030848 | Peyronie Disease | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0030848 | Peyronie Disease | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0030848 | Peyronie Disease | DCN | 1634 | decorin | P07585 |
| C0031269 | Peutz-Jeghers Syndrome | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0031269 | Peutz-Jeghers Syndrome | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0031269 | Peutz-Jeghers Syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0031269 | Peutz-Jeghers Syndrome | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0031269 | Peutz-Jeghers Syndrome | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0031269 | Peutz-Jeghers Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0031269 | Peutz-Jeghers Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0270823 | Petit mal status | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0270823 | Petit mal status | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0270823 | Petit mal status | CAT | 847 | catalase | P04040 |
| C0270823 | Petit mal status | CD33 | 945 | CD33 molecule | P20138 |
