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 |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0233844 | Clumsiness | PSAP | 5660 | prosaposin | P07602 |
C0233844 | Clumsiness | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0233844 | Clumsiness | PRNP | 5621 | prion protein | P04156 |
C0233844 | Clumsiness | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
C0233844 | Clumsiness | ARSA | 410 | arylsulfatase A | P15289 |
C0234144 | Dysgraphia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0234398 | Visual Cortex Disorder | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
C0234398 | Visual Cortex Disorder | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
C0234533 | Generalized seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
C0234533 | Generalized seizures | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
C0234533 | Generalized seizures | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
C0234533 | Generalized seizures | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
C0234533 | Generalized seizures | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
C0234533 | Generalized seizures | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0234533 | Generalized seizures | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
C0234533 | Generalized seizures | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
C0234533 | Generalized seizures | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
C0234533 | Generalized seizures | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
C0234533 | Generalized seizures | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
C0234533 | Generalized seizures | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
C0234533 | Generalized seizures | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
C0234533 | Generalized seizures | CAT | 847 | catalase | P04040 |
C0234533 | Generalized seizures | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
C0234533 | Generalized seizures | UGT2B7 | 7364 | UDP glucuronosyltransferase family 2 member B7 | P16662 |
C0234533 | Generalized seizures | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
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Last updated: August 19, 2024