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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 |
|---|---|---|---|---|---|
| C0015625 | Fanconi Anemia | CD48 | 962 | CD48 molecule | P09326 |
| C0015625 | Fanconi Anemia | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C0015625 | Fanconi Anemia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0015625 | Fanconi Anemia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0015625 | Fanconi Anemia | ME1 | 4199 | malic enzyme 1 | P48163 |
| C0015625 | Fanconi Anemia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0015625 | Fanconi Anemia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0015625 | Fanconi Anemia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0015625 | Fanconi Anemia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0015624 | Fanconi Syndrome | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0015624 | Fanconi Syndrome | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0015624 | Fanconi Syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0015624 | Fanconi Syndrome | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0015624 | Fanconi Syndrome | VNN1 | 8876 | vanin 1 | O95497 |
| C0015624 | Fanconi Syndrome | VNN2 | 8875 | vanin 2 | O95498 |
| C0015624 | Fanconi Syndrome | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0015624 | Fanconi Syndrome | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0015624 | Fanconi Syndrome | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0015624 | Fanconi Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0015526 | Factor XII Deficiency | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0015526 | Factor XII Deficiency | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0015469 | Facial paralysis | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0015469 | Facial paralysis | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0015469 | Facial paralysis | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0015469 | Facial paralysis | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
