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 8901 - 8925 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C1285162 Degenerative disorder GAA 2548 glucosidase alpha, acid P10253
C1285162 Degenerative disorder SGSH 6448 N-sulfoglucosamine sulfohydrolase P51688
C1285162 Degenerative disorder CHIT1 1118 chitinase 1 Q13231
C1285162 Degenerative disorder SIRT6 51548 sirtuin 6 Q8N6T7
C1285162 Degenerative disorder SPTLC1 10558 serine palmitoyltransferase long chain base subunit 1 O15269
C1285162 Degenerative disorder LPL 4023 lipoprotein lipase P06858
C1285162 Degenerative disorder STS 412 steroid sulfatase P08842
C1285162 Degenerative disorder PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C1285162 Degenerative disorder PRNP 5621 prion protein P04156
C1285162 Degenerative disorder CAT 847 catalase P04040
C1285162 Degenerative disorder PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C1285162 Degenerative disorder CLEC16A 23274 C-type lectin domain containing 16A Q2KHT3
C1285162 Degenerative disorder PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C1285162 Degenerative disorder PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C1285162 Degenerative disorder PRNP 5621 prion protein F7VJQ1
C1283601 Deficiency of sulfatase GALNS 2588 galactosamine (N-acetyl)-6-sulfatase P34059
C1283601 Deficiency of sulfatase ARSG 22901 arylsulfatase G Q96EG1
C1283601 Deficiency of sulfatase STS 412 steroid sulfatase P08842
C1282975 von Willebrand Disease, Type 2N OTOA 146183 otoancorin Q7RTW8
C1282975 von Willebrand Disease, Type 2N HADHA 3030 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha P40939
C1282975 von Willebrand Disease, Type 2N ACADVL 37 acyl-CoA dehydrogenase very long chain P49748
C1282916 Secondary Raynaud's phenomenon GAD1 2571 glutamate decarboxylase 1 Q99259
C1282916 Secondary Raynaud's phenomenon CNTN3 5067 contactin 3 Q9P232
C1282359 Ocular Cicatricial Pemphigoid AKR1C3 8644 aldo-keto reductase family 1 member C3 P42330
C1280798 Von Willebrand disease, platelet type GPI 2821 glucose-6-phosphate isomerase P06744

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Last updated: August 19, 2024