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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 |
|---|---|---|---|---|---|
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SQLE | 6713 | squalene epoxidase | Q14534 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ACYP2 | 98 | acylphosphatase 2 | P14621 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C1832884 | Hemiplegic migraine, familial type 1 | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1832884 | Hemiplegic migraine, familial type 1 | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C1832916 | Timothy syndrome | OGA | 10724 | O-GlcNAcase | O60502 |
| C1832916 | Timothy syndrome | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C1833104 | DIABETES MELLITUS, PERMANENT NEONATAL | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C1833104 | DIABETES MELLITUS, PERMANENT NEONATAL | GCK | 2645 | glucokinase | P35557 |
| C1833118 | Cataract, Pulverulent | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C1833213 | Hyperferritinemia, hereditary, with congenital cataracts | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C1833218 | DIABETES MELLITUS, INSULIN-DEPENDENT, 8 | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C1833219 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C1833245 | Retinitis Pigmentosa 17 | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C1833340 | Synostotic Posterior Plagiocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1833340 | Synostotic Posterior Plagiocephaly | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1833382 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1833508 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1833511 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1833518 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
