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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 |
|---|---|---|---|---|---|
| C4015619 | EPILEPSY, PROGRESSIVE MYOCLONIC, 8 | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C4041080 | Neurocognitive Disorders | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C4041080 | Neurocognitive Disorders | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C4041080 | Neurocognitive Disorders | CD38 | 952 | CD38 molecule | P28907 |
| C4041558 | Cone-rod synaptic disorder, congenital nonprogressive | NYX | 60506 | nyctalopin | Q9GZU5 |
| C4045991 | Perihilar Cholangiocarcinoma | ARSA | 410 | arylsulfatase A | P15289 |
| C4045991 | Perihilar Cholangiocarcinoma | LGALS3 | 3958 | galectin 3 | P17931 |
| C4048158 | Convulsions | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C4048158 | Convulsions | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C4048158 | Convulsions | ENO2 | 2026 | enolase 2 | P09104 |
| C4048158 | Convulsions | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C4048158 | Convulsions | CD38 | 952 | CD38 molecule | P28907 |
| C4048158 | Convulsions | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C4048158 | Convulsions | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C4048158 | Convulsions | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C4048158 | Convulsions | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C4048158 | Convulsions | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C4048158 | Convulsions | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C4048158 | Convulsions | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
| C4048158 | Convulsions | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C4048158 | Convulsions | CAT | 847 | catalase | P04040 |
| C4048158 | Convulsions | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C4048158 | Convulsions | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C4048158 | Convulsions | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C4048158 | Convulsions | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
