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 |
---|---|---|---|---|---|
C0036572 | Seizures | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
C0036572 | Seizures | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
C0036572 | Seizures | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C0036572 | Seizures | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
C0036572 | Seizures | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
C0036572 | Seizures | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
C0036572 | Seizures | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
C0036572 | Seizures | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
C0036572 | Seizures | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
C0036572 | Seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
C0036572 | Seizures | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
C0036572 | Seizures | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
C0036572 | Seizures | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
C0036572 | Seizures | PIGB | 9488 | phosphatidylinositol glycan anchor biosynthesis class B | Q92521 |
C0036572 | Seizures | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
C0036572 | Seizures | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0036572 | Seizures | AGA | 175 | aspartylglucosaminidase | P20933 |
C0036572 | Seizures | GALC | 2581 | galactosylceramidase | P54803 |
C0036572 | Seizures | GLA | 2717 | galactosidase alpha | P06280 |
C0036572 | Seizures | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
C0036572 | Seizures | GM2A | 2760 | GM2 ganglioside activator | P17900 |
C0036572 | Seizures | GLB1 | 2720 | galactosidase beta 1 | P16278 |
C0036572 | Seizures | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
C0036572 | Seizures | IDS | 3423 | iduronate 2-sulfatase | P22304 |
C0036572 | Seizures | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
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Last updated: August 19, 2024