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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 |
|---|---|---|---|---|---|
| C0270763 | Familial Motor Neuron Disease | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0270764 | Motor Neuron Disease, Lower | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0270764 | Motor Neuron Disease, Lower | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0270764 | Motor Neuron Disease, Lower | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0270786 | Binswanger Disease | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0270790 | Quadriparesis | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0270790 | Quadriparesis | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0270790 | Quadriparesis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0270790 | Quadriparesis | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0270790 | Quadriparesis | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0270820 | Gelastic Epilepsy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0270823 | Petit mal status | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0270823 | Petit mal status | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0270823 | Petit mal status | CAT | 847 | catalase | P04040 |
| C0270823 | Petit mal status | CD33 | 945 | CD33 molecule | P20138 |
| C0270823 | Petit mal status | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0270824 | Visual seizure | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0270824 | Visual seizure | ENO2 | 2026 | enolase 2 | P09104 |
| C0270824 | Visual seizure | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0270824 | Visual seizure | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0270824 | Visual seizure | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0270824 | Visual seizure | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0270824 | Visual seizure | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0270824 | Visual seizure | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0270824 | Visual seizure | PLD2 | 5338 | phospholipase D2 | O14939 |
