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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 |
|---|---|---|---|---|---|
| C2931008 | Congenital disorder of glycosylation type 2A | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C2931007 | Congenital disorder of glycosylation type 1X | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C2931006 | Congenital disorder of glycosylation type 1L | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C2931006 | Congenital disorder of glycosylation type 1L | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C2931005 | Congenital disorder of glycosylation type 1K | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C2931004 | Congenital disorder of glycosylation type 1J | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C2931002 | Congenital disorder of glycosylation type 1H | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C2931002 | Congenital disorder of glycosylation type 1H | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C2931001 | Congenital disorder of glycosylation type 1G | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C2930997 | Congenital disorder of glycosylation type 1C | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C2930990 | Maple syrup urine disease, type 1B | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C2930930 | Abdominal obesity metabolic syndrome | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C2930865 | Ramer Ladda syndrome | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C2930619 | Sex Differentiation Disorders | CDIPT | 10423 | CDP-diacylglycerol--inositol 3-phosphatidyltransferase | O14735 |
| C2930619 | Sex Differentiation Disorders | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C2930619 | Sex Differentiation Disorders | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C2930619 | Sex Differentiation Disorders | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C2930619 | Sex Differentiation Disorders | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C2930619 | Sex Differentiation Disorders | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C2930619 | Sex Differentiation Disorders | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C2930619 | Sex Differentiation Disorders | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C2930619 | Sex Differentiation Disorders | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C2930619 | Sex Differentiation Disorders | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C2930619 | Sex Differentiation Disorders | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C2930618 | Intersex Conditions | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
