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 16426 - 16450 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C0027831 Neurofibromatosis 1 HSD17B6 8630 hydroxysteroid 17-beta dehydrogenase 6 O14756
C0027831 Neurofibromatosis 1 CD14 929 CD14 molecule P08571
C0027831 Neurofibromatosis 1 IDH2 3418 isocitrate dehydrogenase (NADP(+)) 2 P48735
C0027831 Neurofibromatosis 1 PGD 5226 phosphogluconate dehydrogenase P52209
C0027831 Neurofibromatosis 1 PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0027831 Neurofibromatosis 1 SORD 6652 sorbitol dehydrogenase Q00796
C0027831 Neurofibromatosis 1 PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0027831 Neurofibromatosis 1 PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0027831 Neurofibromatosis 1 PKD1 5310 polycystin 1, transient receptor potential channel interacting P98161
C0027831 Neurofibromatosis 1 PTEN 5728 phosphatase and tensin homolog P60484
C0027831 Neurofibromatosis 1 CNTN2 6900 contactin 2 Q02246
C0162678 Neurofibromatoses SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0162678 Neurofibromatoses G6PD 2539 glucose-6-phosphate dehydrogenase P11413
C0162678 Neurofibromatoses CD38 952 CD38 molecule P28907
C0162678 Neurofibromatoses SDHB 6390 succinate dehydrogenase complex iron sulfur subunit B P21912
C0162678 Neurofibromatoses SDHC 6391 succinate dehydrogenase complex subunit C Q99643
C0162678 Neurofibromatoses CD44 960 CD44 molecule (Indian blood group) P16070
C0162678 Neurofibromatoses PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0162678 Neurofibromatoses PKD1 5310 polycystin 1, transient receptor potential channel interacting P98161
C0162678 Neurofibromatoses CNTN2 6900 contactin 2 Q02246
C1853578 Neuroferritinopathy PLB1 151056 phospholipase B1 Q6P1J6
C1853578 Neuroferritinopathy PLA2G6 8398 phospholipase A2 group VI O60733
C1853578 Neuroferritinopathy PLA2G1B 5319 phospholipase A2 group IB P04054
C0206754 Neuroendocrine Tumors B3GAT1 27087 beta-1,3-glucuronyltransferase 1 Q9P2W7
C0206754 Neuroendocrine Tumors ABO 28 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase P16442

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Last updated: August 19, 2024