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 |
---|---|---|---|---|---|
C0005586 | Bipolar Disorder | ETNPPL | 64850 | ethanolamine-phosphate phospho-lyase | Q8TBG4 |
C0036631 | Seminoma | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
C1540912 | Hypereosinophilic syndrome | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
C1292772 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
C0221013 | Mastocytosis, Systemic | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
C0349639 | Juvenile Myelomonocytic Leukemia | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
C0023480 | Leukemia, Myelomonocytic, Chronic | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
C0027651 | Neoplasms | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
C0014457 | Eosinophilia | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
C0027651 | Neoplasms | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
C0242379 | Malignant neoplasm of lung | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
C0003125 | Anorexia Nervosa | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
C0684249 | Carcinoma of lung | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
C0039144 | Syringomyelia | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
C0008370 | Cholestasis | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
C0751783 | Lafora Disease | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C0751778 | Myoclonic Epilepsies, Progressive | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C0206687 | Carcinoma, Endometrioid | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C0684276 | Hypsarrhythmia | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C0014544 | Epilepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C0476254 | Dyslexia | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C0524851 | Neurodegenerative Disorders | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C1850764 | EPILEPSY, PROGRESSIVE MYOCLONIC 2B | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C0751779 | Action Myoclonus-Renal Failure Syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C0011581 | Depressive disorder | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
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Last updated: August 19, 2024