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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 |
|---|---|---|---|---|---|
| C1834558 | Myopathy, Centronuclear, Autosomal Dominant | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C1834558 | Myopathy, Centronuclear, Autosomal Dominant | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1834531 | MYOPIA 2 (disorder) | LPIN2 | 9663 | lipin 2 | Q92539 |
| C1834523 | ARTHROGRYPOSIS, DISTAL, TYPE 2B | STS | 412 | steroid sulfatase | P08842 |
| C1834304 | AMYOTROPHY, HEREDITARY NEURALGIC | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1833921 | Familial medullary thyroid carcinoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1833921 | Familial medullary thyroid carcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1833921 | Familial medullary thyroid carcinoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C1833921 | Familial medullary thyroid carcinoma | NTM | 50863 | neurotrimin | Q9P121 |
| C1833798 | Optic Nerve Aplasia, Bilateral | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | KL | 9365 | klotho | Q9UEF7 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C1833662 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C1833662 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1833518 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1833511 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1833508 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1833382 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| 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 |
| C1833245 | Retinitis Pigmentosa 17 | CA4 | 762 | carbonic anhydrase 4 | P22748 |
