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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 |
|---|---|---|---|---|---|
| C0030319 | Panic Disorder | PSAP | 5660 | prosaposin | P07602 |
| C0016978 | gallbladder neoplasm | PSAP | 5660 | prosaposin | P07602 |
| C0085293 | Hepatitis E | PSAP | 5660 | prosaposin | P07602 |
| C0019163 | Hepatitis B | PSAP | 5660 | prosaposin | P07602 |
| C0153452 | Malignant neoplasm of gallbladder | PSAP | 5660 | prosaposin | P07602 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C4551568 | Joubert syndrome 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0155299 | Coloboma of optic disc | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0028754 | Obesity | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0086543 | Cataract | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0265677 | Congenital hemivertebra | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C1565489 | Renal Insufficiency | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0431399 | Familial aplasia of the vermis | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0854723 | Retinal Dystrophies | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C1306459 | Primary malignant neoplasm | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0025202 | melanoma | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0027651 | Neoplasms | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0009714 | Hepatic Fibrosis, Congenital | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0022658 | Kidney Diseases | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C1567435 | Polycystic Kidney - body part | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0278510 | Childhood Medulloblastoma | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0009081 | Congenital clubfoot | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C4551720 | Primary Ciliary Dyskinesia | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0022680 | Polycystic Kidney Diseases | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0752166 | Bardet-Biedl Syndrome | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
