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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 |
|---|---|---|---|---|---|
| C4551472 | Hypertrophic obstructive cardiomyopathy | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | PIK3C3 | 5289 | phosphatidylinositol 3-kinase catalytic subunit type 3 | Q8NEB9 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | SI | 6476 | sucrase-isomaltase | P14410 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | FASN | 2194 | fatty acid synthase | P49327 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C4540559 | NEPHROTIC SYNDROME, TYPE 14 | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C4540404 | SPINOCEREBELLAR ATAXIA 46 | PLD3 | 23646 | phospholipase D family member 3 | Q8IV08 |
| C4539843 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C4539754 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C4538570 | COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C4520983 | Congenital atresia of extrahepatic bile duct | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C4520983 | Congenital atresia of extrahepatic bile duct | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C4520983 | Congenital atresia of extrahepatic bile duct | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C4520983 | Congenital atresia of extrahepatic bile duct | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
