Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| C0027092 | Myopia | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266551 | Congenital coloboma of iris | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1531647 | Cerebral ventriculomegaly | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0265677 | Congenital hemivertebra | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0015934 | Fetal Growth Retardation | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1384666 | hearing impairment | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0020224 | Polyhydramnios | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0036572 | Seizures | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3714756 | Intellectual Disability | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1510586 | Autism Spectrum Disorders | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0010038 | Corneal Opacity | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266544 | Microcornea | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0018818 | Ventricular Septal Defects | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0029124 | Optic Atrophy | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1846896 | Deafness, Autosomal Recessive 22 | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0268237 | Cytochrome-c Oxidase Deficiency | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1846647 | DEAFNESS, AUTOSOMAL RECESSIVE (disorder) | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1282975 | von Willebrand Disease, Type 2N | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0018784 | Sensorineural Hearing Loss (disorder) | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0302280 | Adrenogenital Syndrome | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1384666 | hearing impairment | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0452138 | Sensorineural hearing loss, bilateral | OTOA | 146183 | otoancorin | Q7RTW8 |
| C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0001627 | Congenital adrenal hyperplasia | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0221757 | alpha 1-Antitrypsin Deficiency | OTOA | 146183 | otoancorin | Q7RTW8 |
