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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 ▼ |
|---|---|---|---|---|---|
| C0038379 | Strabismus | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0151779 | Cutaneous Melanoma | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0699743 | Congenital muscular dystrophy (disorder) | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0278878 | Adult Glioblastoma | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0748607 | Recurrent seizure | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0004936 | Mental disorders | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0002395 | Alzheimer's Disease | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C3714756 | Intellectual Disability | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C4721453 | Peripheral Nervous System Diseases | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0017205 | Gaucher Disease | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0162830 | Dermatitis, Phototoxic | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0007114 | Malignant neoplasm of skin | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0004153 | Atherosclerosis | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0013336 | Dwarfism | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0009691 | Congenital cataract | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0005695 | Bladder Neoplasm | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0024814 | Marinesco-Sjogren syndrome | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0026848 | Myopathy | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C1442965 | Avascular necrosis of the capital femoral epiphysis | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0751956 | Acute Cerebrovascular Accidents | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0006142 | Malignant neoplasm of breast | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C2931005 | Congenital disorder of glycosylation type 1K | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0018213 | Graves Disease | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
