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 ▼ |
---|---|---|---|---|---|
C0027765 | nervous system disorder | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
C0086543 | Cataract | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
C1306341 | Mental handicap | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
C0278061 | Abnormal mental state | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
C0028738 | Nystagmus | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
C1384666 | hearing impairment | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
C0030567 | Parkinson Disease | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
C0220756 | Niemann-Pick Disease, Type C | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
C0235946 | Cerebral atrophy | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
C0021359 | Infertility | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
C3553571 | Carbohydrate deficient glycoprotein syndrome type 2k | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0575158 | Kyphoscoliosis deformity of spine | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0241005 | Creatine phosphokinase serum increased | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0011989 | Camurati-Engelmann Syndrome | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C1306459 | Primary malignant neoplasm | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0002452 | Amelogenesis Imperfecta | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C2239176 | Liver carcinoma | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0013336 | Dwarfism | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0000768 | Congenital Abnormality | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0027859 | Acoustic Neuroma | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0282577 | Congenital Disorders of Glycosylation | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0029456 | Osteoporosis | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0392476 | Epiphyseal dysplasia | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0006826 | Malignant Neoplasms | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
C0036631 | Seminoma | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
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Last updated: August 19, 2024