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 |
---|---|---|---|---|---|
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 |
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 |
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Last updated: August 19, 2024