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 45851 - 45875 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0376480 Gingival Overgrowth GUSB 2990 glucuronidase beta P08236
C0376480 Gingival Overgrowth IDUA 3425 alpha-L-iduronidase P35475
C0376480 Gingival Overgrowth MAN2B1 4125 mannosidase alpha class 2B member 1 O00754
C0376480 Gingival Overgrowth SLC17A5 26503 solute carrier family 17 member 5 Q9NRA2
C0376480 Gingival Overgrowth SC5D 6309 sterol-C5-desaturase O75845
C0376532 Epilepsy, Rolandic ASAH1 427 N-acylsphingosine amidohydrolase 1 Q13510
C0376532 Epilepsy, Rolandic EPM2A 7957 EPM2A glucan phosphatase, laforin O95278
C0376532 Epilepsy, Rolandic MDGA2 161357 MAM domain containing glycosylphosphatidylinositol anchor 2 Q7Z553
C0376532 Epilepsy, Rolandic PLCB1 23236 phospholipase C beta 1 Q9NQ66
C0376544 Hematopoietic Neoplasms A4GALT 53947 alpha 1,4-galactosyltransferase (P blood group) Q9NPC4
C0376544 Hematopoietic Neoplasms PARP1 142 poly(ADP-ribose) polymerase 1 P09874
C0376544 Hematopoietic Neoplasms IDH1 3417 isocitrate dehydrogenase (NADP(+)) 1 O75874
C0376544 Hematopoietic Neoplasms CD109 135228 CD109 molecule Q6YHK3
C0376544 Hematopoietic Neoplasms PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0376544 Hematopoietic Neoplasms PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0376544 Hematopoietic Neoplasms PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0376544 Hematopoietic Neoplasms PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0376544 Hematopoietic Neoplasms SOAT1 6646 sterol O-acyltransferase 1 P35610
C0376545 Hematologic Neoplasms FUT1 2523 fucosyltransferase 1 (H blood group) P19526
C0376545 Hematologic Neoplasms ABO 28 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase P16442
C0376545 Hematologic Neoplasms UGCG 7357 UDP-glucose ceramide glucosyltransferase Q16739
C0376545 Hematologic Neoplasms CHST9 83539 carbohydrate sulfotransferase 9 Q7L1S5
C0376545 Hematologic Neoplasms COG1 9382 component of oligomeric golgi complex 1 Q8WTW3
C0376545 Hematologic Neoplasms SPACA3 124912 sperm acrosome associated 3 Q8IXA5
C0376545 Hematologic Neoplasms CHI3L1 1116 chitinase 3 like 1 P36222

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