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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 |
|---|---|---|---|---|---|
| C1412002 | Atypical pneumonia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C1412000 | Mesenteric vascular insufficiency | ARSA | 410 | arylsulfatase A | P15289 |
| C1412000 | Mesenteric vascular insufficiency | CAT | 847 | catalase | P04040 |
| C1412000 | Mesenteric vascular insufficiency | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C1409792 | Coronary sinus defect | ARSD | 414 | arylsulfatase D | P51689 |
| C1408247 | Renal disease (acute) NOS | KHK | 3795 | ketohexokinase | P50053 |
| C1408182 | Hereditary motor and sensory neuropathy, types I-IV | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1408182 | Hereditary motor and sensory neuropathy, types I-IV | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1408174 | Hypertrophic neuropathy of infancy | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1408174 | Hypertrophic neuropathy of infancy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1399226 | Ectopic rhythm | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C1399226 | Ectopic rhythm | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1394891 | Intrinsic Factor Deficiency | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C1394891 | Intrinsic Factor Deficiency | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C1389018 | Atrioventricular Septal Defect | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1389016 | ATRIOVENTRICULAR CANAL DEFECT | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1389016 | ATRIOVENTRICULAR CANAL DEFECT | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1389016 | ATRIOVENTRICULAR CANAL DEFECT | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1384666 | hearing impairment | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1384666 | hearing impairment | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1384666 | hearing impairment | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1384666 | hearing impairment | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1384666 | hearing impairment | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C1384666 | hearing impairment | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C1384666 | hearing impairment | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
