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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 ▼ |
|---|---|---|---|---|---|
| C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | THEM5 | 284486 | thioesterase superfamily member 5 | Q8N1Q8 |
| C2711227 | Steatohepatitis | THEM5 | 284486 | thioesterase superfamily member 5 | Q8N1Q8 |
| C0015695 | Fatty Liver | THEM5 | 284486 | thioesterase superfamily member 5 | Q8N1Q8 |
| C0027651 | Neoplasms | LYG1 | 129530 | lysozyme g1 | Q8N1E2 |
| C0027651 | Neoplasms | GPC2 | 221914 | glypican 2 | Q8N158 |
| C0027819 | Neuroblastoma | GPC2 | 221914 | glypican 2 | Q8N158 |
| C0700095 | Central neuroblastoma | GPC2 | 221914 | glypican 2 | Q8N158 |
| C0006826 | Malignant Neoplasms | GPC2 | 221914 | glypican 2 | Q8N158 |
| C0345904 | Malignant neoplasm of liver | GPC2 | 221914 | glypican 2 | Q8N158 |
| C1306459 | Primary malignant neoplasm | GPC2 | 221914 | glypican 2 | Q8N158 |
| C0006142 | Malignant neoplasm of breast | GPC2 | 221914 | glypican 2 | Q8N158 |
| C0021364 | Male infertility | PGAM4 | 441531 | phosphoglycerate mutase family member 4 | Q8N0Y7 |
| C0038379 | Strabismus | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C3714756 | Intellectual Disability | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0282577 | Congenital Disorders of Glycosylation | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0028738 | Nystagmus | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0036572 | Seizures | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0017168 | Gastroesophageal reflux disease | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0029124 | Optic Atrophy | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C1833213 | Hyperferritinemia, hereditary, with congenital cataracts | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C0009691 | Congenital cataract | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C0007847 | Malignant tumor of cervix | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C0266539 | Congenital total cataract | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C3805373 | CATARACT 13 WITH ADULT i PHENOTYPE | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C4048328 | cervical cancer | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
