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 10551 - 10575 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0877046 Tooth Infection LGALS3 3958 galectin 3 P17931
C0877024 Schimke immunoosseous dysplasia GM2A 2760 GM2 ganglioside activator P17900
C0877024 Schimke immunoosseous dysplasia HEXB 3074 hexosaminidase subunit beta P07686
C0877024 Schimke immunoosseous dysplasia AKR1B10 57016 aldo-keto reductase family 1 member B10 O60218
C0877024 Schimke immunoosseous dysplasia CHPT1 56994 choline phosphotransferase 1 Q8WUD6
C0872218 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME TYMP 1890 thymidine phosphorylase P19971
C0870082 Hyperkeratosis GBA 2629 glucosylceramidase beta P04062
C0870082 Hyperkeratosis GLA 2717 galactosidase alpha P06280
C0870082 Hyperkeratosis NAGA 4668 alpha-N-acetylgalactosaminidase P17050
C0870082 Hyperkeratosis NEU1 4758 neuraminidase 1 Q99519
C0870082 Hyperkeratosis COG6 57511 component of oligomeric golgi complex 6 Q9Y2V7
C0870082 Hyperkeratosis MPDU1 9526 mannose-P-dolichol utilization defect 1 O75352
C0870082 Hyperkeratosis SRD5A3 79644 steroid 5 alpha-reductase 3 Q9H8P0
C0870082 Hyperkeratosis APRT 353 adenine phosphoribosyltransferase P07741
C0870082 Hyperkeratosis OGG1 4968 8-oxoguanine DNA glycosylase O15527
C0870082 Hyperkeratosis ENPP1 5167 ectonucleotide pyrophosphatase/phosphodiesterase 1 P22413
C0870082 Hyperkeratosis SPTLC1 10558 serine palmitoyltransferase long chain base subunit 1 O15269
C0870082 Hyperkeratosis ALOX12B 242 arachidonate 12-lipoxygenase, 12R type O75342
C0870082 Hyperkeratosis STS 412 steroid sulfatase P08842
C0870082 Hyperkeratosis CLEC7A 64581 C-type lectin domain containing 7A Q9BXN2
C0870082 Hyperkeratosis SULT2B1 6820 sulfotransferase family 2B member 1 O00204
C0870082 Hyperkeratosis ELOVL4 6785 ELOVL fatty acid elongase 4 Q9GZR5
C0870082 Hyperkeratosis CAT 847 catalase P04040
C0870082 Hyperkeratosis PIGL 9487 phosphatidylinositol glycan anchor biosynthesis class L Q9Y2B2
C0870082 Hyperkeratosis PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336

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Last updated: August 19, 2024