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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 |
|---|---|---|---|---|---|
| C3150988 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C3151055 | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C3151057 | HETEROTAXY, VISCERAL, 4, AUTOSOMAL | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3151140 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2D | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C3151140 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2D | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C3151147 | Bile Acid Synthesis Defect, Congenital, 3 | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C3151147 | Bile Acid Synthesis Defect, Congenital, 3 | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C3151184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C3151188 | NEPHRONOPHTHISIS 9 | LGALS1 | 3956 | galectin 1 | P09382 |
| C3151221 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C3151227 | RETINITIS PIGMENTOSA 59 | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C3151407 | SPERMATOGENIC FAILURE 9 | DPY19L2 | 283417 | dpy-19 like 2 | Q6NUT2 |
| C3151409 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C3151462 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C3151476 | MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C3151519 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C3151867 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3152055 | D-2-HYDROXYGLUTARIC ACIDURIA 1 | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C3152055 | D-2-HYDROXYGLUTARIC ACIDURIA 1 | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C3152055 | D-2-HYDROXYGLUTARIC ACIDURIA 1 | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C3160718 | PARKINSON DISEASE, LATE-ONSET | ST3GAL2 | 6483 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | Q16842 |
| C3160718 | PARKINSON DISEASE, LATE-ONSET | B3GALT4 | 8705 | beta-1,3-galactosyltransferase 4 | O96024 |
| C3160718 | PARKINSON DISEASE, LATE-ONSET | GALC | 2581 | galactosylceramidase | P54803 |
| C3160718 | PARKINSON DISEASE, LATE-ONSET | GBA | 2629 | glucosylceramidase beta | P04062 |
| C3160718 | PARKINSON DISEASE, LATE-ONSET | GLA | 2717 | galactosidase alpha | P06280 |
