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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 ▼ |
|---|---|---|---|---|---|
| C0038220 | Status Epilepticus | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
| C4317295 | Congenital disorder of glycosylation type 1s | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0011991 | Diarrhea | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0015934 | Fetal Growth Retardation | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C2931002 | Congenital disorder of glycosylation type 1H | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0282577 | Congenital Disorders of Glycosylation | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0010417 | Cryptorchidism | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0079924 | Oligohydramnios | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0015930 | Fetal Distress | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0020224 | Polyhydramnios | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0020676 | Hypothyroidism | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C3887499 | Renal cyst | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0040034 | Thrombocytopenia | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0158683 | Polycystic liver disease | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0002871 | Anemia | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0021831 | Intestinal Diseases | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0013274 | Patent ductus arteriosus | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0033680 | Protein-Losing Enteropathies | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0008370 | Cholestasis | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C1691228 | Cystic Kidney Diseases | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0024236 | Lymphedema | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0011581 | Depressive disorder | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0009081 | Congenital clubfoot | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0018816 | Heart Septal Defects | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0086543 | Cataract | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
