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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 |
|---|---|---|---|---|---|
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0265329 | Organoid Nevus Phakomatosis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0265338 | Coffin-Siris syndrome | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0265338 | Coffin-Siris syndrome | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0265338 | Coffin-Siris syndrome | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0265338 | Coffin-Siris syndrome | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0265338 | Coffin-Siris syndrome | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C0265338 | Coffin-Siris syndrome | CD14 | 929 | CD14 molecule | P08571 |
| C0265338 | Coffin-Siris syndrome | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0265339 | Borjeson-Forssman-Lehmann syndrome | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0265341 | Rieger syndrome | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0265342 | Cerebrocostomandibular Syndrome | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0265343 | Jarcho-Levin syndrome | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0265343 | Jarcho-Levin syndrome | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0265354 | CHARGE Syndrome | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0265357 | Polysplenia Syndrome | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0265425 | 9p partial monosomy syndrome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0265534 | Scaphycephaly | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0265534 | Scaphycephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0265534 | Scaphycephaly | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0265534 | Scaphycephaly | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0265534 | Scaphycephaly | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0265534 | Scaphycephaly | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0265535 | Trigonocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0265535 | Trigonocephaly | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
