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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 |
|---|---|---|---|---|---|
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C1842704 | GAUCHER DISEASE, PERINATAL LETHAL | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1842675 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
| C1842675 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C1842675 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C1842675 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1842534 | DYSTONIA 18 (disorder) | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1842362 | HERMANSKY-PUDLAK SYNDROME 2 | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C1842247 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C1842247 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 | PLPP3 | 8613 | phospholipid phosphatase 3 | O14495 |
| C1842090 | Platelet Glycoprotein IV Deficiency | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C1842028 | GLAUCOMA 1, OPEN ANGLE, A | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C1840362 | HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder) | EFNA5 | 1946 | ephrin A5 | P52803 |
| C1840333 | Barakat syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1840333 | Barakat syndrome | STS | 412 | steroid sulfatase | P08842 |
| C1840333 | Barakat syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1840322 | ODONTOHYPOPHOSPHATASIA (disorder) | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C1840235 | SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C1840061 | SMALL PATELLA SYNDROME | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C1840061 | SMALL PATELLA SYNDROME | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
