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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 |
|---|---|---|---|---|---|
| C0036875 | Disorders of Sex Development | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0036875 | Disorders of Sex Development | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0036875 | Disorders of Sex Development | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0036875 | Disorders of Sex Development | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0036875 | Disorders of Sex Development | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0032708 | Disorders of Porphyrin Metabolism | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0032708 | Disorders of Porphyrin Metabolism | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0235522 | Disorder of vein | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0235522 | Disorder of vein | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0029132 | Disorder of the optic nerve | ACO2 | 50 | aconitase 2 | Q99798 |
| C0029132 | Disorder of the optic nerve | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0029132 | Disorder of the optic nerve | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0029132 | Disorder of the optic nerve | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0029132 | Disorder of the optic nerve | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0080276 | Disorder of the genitourinary system | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C1533847 | Disorder of skeletal muscle | GYG1 | 2992 | glycogenin 1 | P46976 |
| C1533847 | Disorder of skeletal muscle | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C1533847 | Disorder of skeletal muscle | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1533847 | Disorder of skeletal muscle | LPIN1 | 23175 | lipin 1 | Q14693 |
| C1533847 | Disorder of skeletal muscle | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C1533847 | Disorder of skeletal muscle | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C1533847 | Disorder of skeletal muscle | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1533847 | Disorder of skeletal muscle | SFTPC | 6440 | surfactant protein C | P11686 |
| C0265122 | Disorder of pericardium | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0268634 | Disorder of fatty acid metabolism | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
