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 61551 - 61575 of 62743 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Gene Name UniProt ID
C4552072 X-linked infantile spasms PIGP 51227 phosphatidylinositol glycan anchor biosynthesis class P P57054
C1839615 X-linked myopathy with excessive autophagy GNE 10020 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Q9Y223
C1839615 X-linked myopathy with excessive autophagy PYGM 5837 glycogen phosphorylase, muscle associated P11217
C4551511 X-linked sideroblastic anemia SUCLA2 8803 succinate-CoA ligase ADP-forming subunit beta Q9P2R7
C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C MPG 4350 N-methylpurine DNA glycosylase P29372
C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C OGG1 4968 8-oxoguanine DNA glycosylase O15527
C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C CAT 847 catalase P04040
C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C1337035 Xanthogranulomatous cholecystitis CEACAM5 1048 CEA cell adhesion molecule 5 P06731
C0302314 Xanthoma CEACAM5 1048 CEA cell adhesion molecule 5 P06731
C0302314 Xanthoma SLC37A4 2542 solute carrier family 37 member 4 O43826
C0302314 Xanthoma PTGS1 5742 prostaglandin-endoperoxide synthase 1 P23219
C0302314 Xanthoma G6PC 2538 glucose-6-phosphatase catalytic subunit P35575
C0302314 Xanthoma GPC1 2817 glypican 1 P35052
C0302314 Xanthoma CYP27A1 1593 cytochrome P450 family 27 subfamily A member 1 Q02318
C0302314 Xanthoma EPHX2 2053 epoxide hydrolase 2 P34913
C0302314 Xanthoma ALOX5 240 arachidonate 5-lipoxygenase P09917
C0043325 Xanthomatosis SMPD1 6609 sphingomyelin phosphodiesterase 1 P17405
C0043325 Xanthomatosis SLC37A4 2542 solute carrier family 37 member 4 O43826
C0043325 Xanthomatosis ACAT1 38 acetyl-CoA acetyltransferase 1 P24752
C0043325 Xanthomatosis G6PC 2538 glucose-6-phosphatase catalytic subunit P35575
C0043325 Xanthomatosis SOAT1 6646 sterol O-acyltransferase 1 P35610

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Last updated: August 19, 2024