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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 |
|---|---|---|---|---|---|
| C3495676 | Anorectal Malformations | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0036572 | Seizures | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0014877 | Esotropia | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C1384666 | hearing impairment | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0036439 | Scoliosis, unspecified | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0494475 | Tonic - clonic seizures | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0936215 | Vitamin B 6 Deficiency | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0000768 | Congenital Abnormality | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0221356 | Brachycephaly | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0036857 | Severe intellectual disability | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0002170 | Alopecia | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0011615 | Dermatitis, Atopic | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0086873 | Pseudopelade | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0022658 | Kidney Diseases | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0013595 | Eczema | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C1561643 | Chronic Kidney Diseases | FAR2 | 55711 | fatty acyl-CoA reductase 2 | Q96K12 |
| C0002395 | Alzheimer's Disease | EDEM2 | 55741 | ER degradation enhancing alpha-mannosidase like protein 2 | Q9BV94 |
| C0042133 | Uterine Fibroids | EDEM2 | 55741 | ER degradation enhancing alpha-mannosidase like protein 2 | Q9BV94 |
| C0023267 | Fibroid Tumor | EDEM2 | 55741 | ER degradation enhancing alpha-mannosidase like protein 2 | Q9BV94 |
| C0036341 | Schizophrenia | EDEM2 | 55741 | ER degradation enhancing alpha-mannosidase like protein 2 | Q9BV94 |
| C0279626 | Squamous cell carcinoma of esophagus | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0006826 | Malignant Neoplasms | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C1859317 | Cataract and cardiomyopathy | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0086543 | Cataract | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0600139 | Prostate carcinoma | AGK | 55750 | acylglycerol kinase | Q53H12 |
