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 ▲ |
---|---|---|---|---|---|
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 |
C0206062 | Lung Diseases, Interstitial | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
C0019294 | Hernia, Inguinal | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
C0011813 | Dextrocardia | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
C3665347 | Visual Impairment | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
C0271270 | Oculovestibuloauditory syndrome | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
C0019569 | Hirschsprung Disease | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
C0152427 | Polydactyly | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
C0038379 | Strabismus | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
C3714756 | Intellectual Disability | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
C0013274 | Patent ductus arteriosus | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
C0278876 | Adult Medulloblastoma | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
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Last updated: August 19, 2024