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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 ▼ |
|---|---|---|---|---|---|
| C0278876 | Adult Medulloblastoma | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0520680 | Sleep Apnea, Central | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0020255 | Hydrocephalus | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0042769 | Virus Diseases | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0036439 | Scoliosis, unspecified | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0543874 | Apraxia, oculomotor, Cogan type | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0036572 | Seizures | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C2981150 | Uranostaphyloschisis | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0028860 | Oculocerebrorenal Syndrome | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0005745 | Blepharoptosis | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0030846 | Penile Diseases | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0025149 | Medulloblastoma | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0239946 | Fibrosis, Liver | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0020541 | Portal Hypertension | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0022679 | Cystic kidney | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0028738 | Nystagmus | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3887499 | Renal cyst | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3714581 | Multicystic Dysplastic Kidney | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0023903 | Liver neoplasms | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0008780 | Ciliary Motility Disorders | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0266551 | Congenital coloboma of iris | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0006826 | Malignant Neoplasms | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3714506 | Meckel syndrome type 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0008925 | Cleft Palate | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0024141 | Lupus Erythematosus, Systemic | CHST12 | 55501 | carbohydrate sulfotransferase 12 | Q9NRB3 |
