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 |
---|---|---|---|---|---|
C1865343 | OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE | LSS | 4047 | lanosterol synthase | P48449 |
C1865322 | MIGRAINE, FAMILIAL HEMIPLEGIC, 2 | DPEP1 | 1800 | dipeptidase 1 | P16444 |
C1865290 | Hyperinsulinemic hypoglycemia, familial, 3 | GCK | 2645 | glucokinase | P35557 |
C1865233 | Muscular Dystrophy, Congenital, Megaconial Type | CHKB | 1120 | choline kinase beta | Q9Y259 |
C1865233 | Muscular Dystrophy, Congenital, Megaconial Type | CHKA | 1119 | choline kinase alpha | P35790 |
C1865145 | Congenital disorder of glycosylation type 1B | MPI | 4351 | mannose phosphate isomerase | P34949 |
C1865145 | Congenital disorder of glycosylation type 1B | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C1865020 | Short QT Syndrome 1 | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
C1864948 | Hyperinsulinemic Hypoglycemia, Familial, 4 | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
C1864923 | Northern epilepsy syndrome | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C1864872 | Spondyloepimetaphyseal dysplasia, Genevieve type | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
C1864849 | RETINAL CONE DYSTROPHY 4 | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
C1864738 | Corneal Dystrophy, Congenital Stromal | DCN | 1634 | decorin | P07585 |
C1864651 | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | PSAP | 5660 | prosaposin | P07602 |
C1864446 | Retinitis Pigmentosa 25 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
C1864446 | Retinitis Pigmentosa 25 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
C1864233 | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
C1864172 | Peroxisome Biogenesis Disorder, Complementation Group G | AGA | 175 | aspartylglucosaminidase | P20933 |
C1864112 | HUNTINGTON DISEASE-LIKE 1 | PRNP | 5621 | prion protein | P04156 |
C1864112 | HUNTINGTON DISEASE-LIKE 1 | PRNP | 5621 | prion protein | F7VJQ1 |
C1864111 | MYOPIA 3 (disorder) | FMOD | 2331 | fibromodulin | Q06828 |
C1864100 | PSEUDOHYPOPARATHYROIDISM, TYPE IB | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
C1863999 | Peroxisome Biogenesis Disorder, Complementation Group D | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
C1863999 | Peroxisome Biogenesis Disorder, Complementation Group D | CAT | 847 | catalase | P04040 |
C1863844 | Adult-onset citrullinemia type 2 | GPD2 | 2820 | glycerol-3-phosphate dehydrogenase 2 | P43304 |
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Last updated: August 19, 2024