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 |
---|---|---|---|---|---|
C0001175 | Acquired Immunodeficiency Syndrome | SFTPD | 6441 | surfactant protein D | P35247 |
C0023449 | Acute lymphocytic leukemia | SFTPD | 6441 | surfactant protein D | P35247 |
C0022658 | Kidney Diseases | SFTPD | 6441 | surfactant protein D | P35247 |
C0026272 | Mixed Connective Tissue Disease | SFTPD | 6441 | surfactant protein D | P35247 |
C0013238 | Dry Eye Syndromes | SFTPD | 6441 | surfactant protein D | P35247 |
C1704436 | Peripheral Arterial Diseases | SFTPD | 6441 | surfactant protein D | P35247 |
C0003864 | Arthritis | SFTPD | 6441 | surfactant protein D | P35247 |
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 |
C3714756 | Intellectual Disability | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
C0030567 | Parkinson Disease | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
C0035304 | Retinal Degeneration | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
C0017168 | Gastroesophageal reflux disease | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
C4510873 | Atypical juvenile parkinsonism | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
C1868596 | Atypical Parkinson Disease | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
C0013421 | Dystonia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
C0038220 | Status Epilepticus | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
C0036439 | Scoliosis, unspecified | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
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Last updated: August 19, 2024