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 53826 - 53850 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0008489 Chorea NGLY1 55768 N-glycanase 1 Q96IV0
C0008489 Chorea PRNP 5621 prion protein P04156
C0008489 Chorea MBOAT7 79143 membrane bound O-acyltransferase domain containing 7 Q96N66
C0008489 Chorea LMAN2L 81562 lectin, mannose binding 2 like Q9H0V9
C0008489 Chorea PLA2G6 8398 phospholipase A2 group VI O60733
C0008489 Chorea CACNA2D2 9254 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Q9NY47
C0008489 Chorea TECR 9524 trans-2,3-enoyl-CoA reductase Q9NZ01
C0008489 Chorea NDST1 3340 N-deacetylase and N-sulfotransferase 1 P52848
C0008489 Chorea PRNP 5621 prion protein F7VJQ1
C0008487 Chordoma PARP1 142 poly(ADP-ribose) polymerase 1 P09874
C0008487 Chordoma IDH1 3417 isocitrate dehydrogenase (NADP(+)) 1 O75874
C0008487 Chordoma LGALS9 3965 galectin 9 O00182
C0008487 Chordoma CSPG4 1464 chondroitin sulfate proteoglycan 4 Q6UVK1
C0008487 Chordoma ACAN 176 aggrecan P16112
C0008487 Chordoma FCGR3B 2215 Fc fragment of IgG receptor IIIb O75015
C0008487 Chordoma SIGLEC7 27036 sialic acid binding Ig like lectin 7 Q9Y286
C0008487 Chordoma PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0008487 Chordoma CBR1 873 carbonyl reductase 1 P16152
C0008487 Chordoma PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0008487 Chordoma PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0008487 Chordoma PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0008487 Chordoma PTEN 5728 phosphatase and tensin homolog P60484
C0008479 Chondrosarcoma EXT1 2131 exostosin glycosyltransferase 1 Q16394
C0008479 Chondrosarcoma EXT2 2132 exostosin glycosyltransferase 2 Q93063
C0008479 Chondrosarcoma HS3ST1 9957 heparan sulfate-glucosamine 3-sulfotransferase 1 O14792

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Last updated: August 19, 2024