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
Displaying entries 53876 - 53900 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C0007682 CNS disorder ACHE 43 acetylcholinesterase (Cartwright blood group) P22303
C0007682 CNS disorder NCAM1 4684 neural cell adhesion molecule 1 P13591
C0007682 CNS disorder PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0007682 CNS disorder PRNP 5621 prion protein P04156
C0007682 CNS disorder NYX 60506 nyctalopin Q9GZU5
C0007682 CNS disorder RTN4R 65078 reticulon 4 receptor Q9BZR6
C0007682 CNS disorder CH25H 9023 cholesterol 25-hydroxylase O95992
C0007682 CNS disorder CD44 960 CD44 molecule (Indian blood group) P16070
C0007682 CNS disorder IDH2 3418 isocitrate dehydrogenase (NADP(+)) 2 P48735
C0007682 CNS disorder EBP 10682 EBP cholestenol delta-isomerase Q15125
C0007682 CNS disorder CYP2B6 1555 cytochrome P450 family 2 subfamily B member 6 P20813
C0007682 CNS disorder CYP2C9 1559 cytochrome P450 family 2 subfamily C member 9 P11712
C0007682 CNS disorder CYP3A4 1576 cytochrome P450 family 3 subfamily A member 4 P08684
C0007682 CNS disorder ECHS1 1892 enoyl-CoA hydratase, short chain 1 P30084
C0007682 CNS disorder GAD2 2572 glutamate decarboxylase 2 Q05329
C0007682 CNS disorder ALDH7A1 501 aldehyde dehydrogenase 7 family member A1 P49419
C0007682 CNS disorder PRNP 5621 prion protein F7VJQ1
C0007682 CNS disorder PTEN 5728 phosphatase and tensin homolog P60484
C1844830 CLEFT PALATE, X-LINKED PGK1 5230 phosphoglycerate kinase 1 P00558
C1844830 CLEFT PALATE, X-LINKED EBP 10682 EBP cholestenol delta-isomerase Q15125
C1853942 CITRULLINEMIA, TYPE II, NEONATAL-ONSET GGT1 2678 gamma-glutamyltransferase 1 P19440
C1853942 CITRULLINEMIA, TYPE II, NEONATAL-ONSET GPD2 2820 glycerol-3-phosphate dehydrogenase 2 P43304
C0795830 CHROMOSOME 9p DELETION SYNDROME FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0795830 CHROMOSOME 9p DELETION SYNDROME AMT 275 aminomethyltransferase P48728
C0795830 CHROMOSOME 9p DELETION SYNDROME GLDC 2731 glycine decarboxylase P23378

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Last updated: August 19, 2024