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 |
---|---|---|---|---|---|
C1304508 | Spindle cell hemangioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C1304508 | Spindle cell hemangioma | ANXA5 | 308 | annexin A5 | P08758 |
C1304508 | Spindle cell hemangioma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
C1304508 | Spindle cell hemangioma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
C1304508 | Spindle cell hemangioma | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
C1304508 | Spindle cell hemangioma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0752120 | Spinocerebellar Ataxia Type 1 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
C0752120 | Spinocerebellar Ataxia Type 1 | CAT | 847 | catalase | P04040 |
C0752120 | Spinocerebellar Ataxia Type 1 | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
C0752120 | Spinocerebellar Ataxia Type 1 | GLO1 | 2739 | glyoxalase I | Q04760 |
C0752121 | Spinocerebellar Ataxia Type 2 | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
C0752121 | Spinocerebellar Ataxia Type 2 | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
C0752121 | Spinocerebellar Ataxia Type 2 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
C0752121 | Spinocerebellar Ataxia Type 2 | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
C0752121 | Spinocerebellar Ataxia Type 2 | CAT | 847 | catalase | P04040 |
C0752122 | Spinocerebellar Ataxia Type 4 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
C0752123 | Spinocerebellar Ataxia Type 5 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
C0752124 | Spinocerebellar Ataxia Type 6 (disorder) | MPI | 4351 | mannose phosphate isomerase | P34949 |
C0752124 | Spinocerebellar Ataxia Type 6 (disorder) | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
C0752125 | Spinocerebellar Ataxia Type 7 | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
C0752125 | Spinocerebellar Ataxia Type 7 | PRNP | 5621 | prion protein | P04156 |
C0752125 | Spinocerebellar Ataxia Type 7 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
C0752125 | Spinocerebellar Ataxia Type 7 | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
C0752125 | Spinocerebellar Ataxia Type 7 | PRNP | 5621 | prion protein | F7VJQ1 |
C4518337 | Spinocerebellar ataxia type 38 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024