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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 |
|---|---|---|---|---|---|
| C0020255 | Hydrocephalus | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0024117 | Chronic Obstructive Airway Disease | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0036572 | Seizures | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1531647 | Cerebral ventriculomegaly | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0086543 | Cataract | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C2720163 | Placental Steroid Sulfatase Deficiency | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C3714756 | Intellectual Disability | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0036341 | Schizophrenia | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0026703 | Mucopolysaccharidoses | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0020757 | Ichthyoses | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C4014261 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C3665347 | Visual Impairment | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0026769 | Multiple Sclerosis | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0678222 | Breast Carcinoma | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1384666 | hearing impairment | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0013336 | Dwarfism | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0035304 | Retinal Degeneration | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0013080 | Down Syndrome | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0005586 | Bipolar Disorder | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C3809824 | PARKINSON DISEASE 20, EARLY-ONSET | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0025958 | Microcephaly | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0036572 | Seizures | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0002395 | Alzheimer's Disease | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0242422 | Parkinsonian Disorders | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0006012 | Borderline Personality Disorder | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
