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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 |
|---|---|---|---|---|---|
| C0018817 | Atrial Septal Defects | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0002878 | Anemia, Hemolytic | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0019569 | Hirschsprung Disease | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0398623 | Thrombophilia | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C3714756 | Intellectual Disability | PIGB | 9488 | phosphatidylinositol glycan anchor biosynthesis class B | Q92521 |
| C0036572 | Seizures | PIGB | 9488 | phosphatidylinositol glycan anchor biosynthesis class B | Q92521 |
| C0270921 | Axonal neuropathy | PIGB | 9488 | phosphatidylinositol glycan anchor biosynthesis class B | Q92521 |
| C0013421 | Dystonia | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0013384 | Dyskinetic syndrome | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0235946 | Cerebral atrophy | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C1527366 | Salaam Seizures | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0037369 | Smoking | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0751495 | Seizures, Focal | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0008489 | Chorea | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0234533 | Generalized seizures | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0030567 | Parkinson Disease | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0520947 | Clumsiness - motor delay | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C3714756 | Intellectual Disability | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0036572 | Seizures | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0038273 | Stereotypic Movement Disorder | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0684276 | Hypsarrhythmia | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0011581 | Depressive disorder | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0025958 | Microcephaly | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0036857 | Severe intellectual disability | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0015934 | Fetal Growth Retardation | PIGF | 5281 | phosphatidylinositol glycan anchor biosynthesis class F | Q07326 |
