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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C0037773 | Spastic Paraplegia, Hereditary | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0036439 | Scoliosis, unspecified | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C2828721 | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0018784 | Sensorineural Hearing Loss (disorder) | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0027651 | Neoplasms | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0021364 | Male infertility | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0010674 | Cystic Fibrosis | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0017205 | Gaucher Disease | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0034152 | Henoch-Schoenlein Purpura | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0020179 | Huntington Disease | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0017601 | Glaucoma | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0037772 | Spastic Paraplegia | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0497327 | Dementia | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0007758 | Cerebellar Ataxia | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C1857276 | Trichohepatoenteric Syndrome | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0027765 | nervous system disorder | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0086543 | Cataract | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
