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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 |
|---|---|---|---|---|---|
| C0426970 | Spastic Quadriplegia | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0426970 | Spastic Quadriplegia | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0426970 | Spastic Quadriplegia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0426970 | Spastic Quadriplegia | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0426970 | Spastic Quadriplegia | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0426970 | Spastic Quadriplegia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0426970 | Spastic Quadriplegia | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0426970 | Spastic Quadriplegia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0426970 | Spastic Quadriplegia | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0338596 | Spastic cerebral palsy | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0338596 | Spastic cerebral palsy | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1858712 | Spastic paraplegia 10, autosomal dominant | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1858712 | Spastic paraplegia 10, autosomal dominant | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C2931356 | Spastic paraplegia type 5A, recessive | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C2931356 | Spastic paraplegia type 5A, recessive | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0037789 | Specific reading disorder | ARSD | 414 | arylsulfatase D | P51689 |
| C0037822 | Speech Disorders | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0037822 | Speech Disorders | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0037822 | Speech Disorders | FKTN | 2218 | fukutin | O75072 |
| C0037822 | Speech Disorders | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0037822 | Speech Disorders | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0037822 | Speech Disorders | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0037822 | Speech Disorders | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0037822 | Speech Disorders | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0037822 | Speech Disorders | AGA | 175 | aspartylglucosaminidase | P20933 |
