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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 |
|---|---|---|---|---|---|
| C1306503 | Congenital exomphalos | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0234398 | Visual Cortex Disorder | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0013384 | Dyskinetic syndrome | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0684276 | Hypsarrhythmia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0037769 | West Syndrome | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C3536714 | Renal dysplasia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C1860787 | DOWN SYNDROME CRITICAL REGION | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C3714756 | Intellectual Disability | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0008925 | Cleft Palate | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0013421 | Dystonia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0018818 | Ventricular Septal Defects | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0027066 | Myoclonus | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0013274 | Patent ductus arteriosus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0015310 | Exotropia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0025958 | Microcephaly | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0041960 | Ureterocele | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0027066 | Myoclonus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C3714756 | Intellectual Disability | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0016522 | Foramen Ovale, Patent | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0085583 | Choreoathetosis | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C3536714 | Renal dysplasia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0028738 | Nystagmus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0029124 | Optic Atrophy | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0027051 | Myocardial Infarction | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0266483 | Pachygyria | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
