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 10426 - 10450 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0878677 Glycogen Storage Disease Type IIb APRT 353 adenine phosphoribosyltransferase P07741
C0878675 Erdheim-Chester Disease ASAH1 427 N-acylsphingosine amidohydrolase 1 Q13510
C0878675 Erdheim-Chester Disease SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0878675 Erdheim-Chester Disease PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0878675 Erdheim-Chester Disease PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0878675 Erdheim-Chester Disease PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0878675 Erdheim-Chester Disease PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0878544 Cardiomyopathies POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0878544 Cardiomyopathies FKTN 2218 fukutin O75072
C0878544 Cardiomyopathies FUT4 2526 fucosyltransferase 4 P22083
C0878544 Cardiomyopathies HAS3 3038 hyaluronan synthase 3 O00219
C0878544 Cardiomyopathies DPM3 54344 dolichyl-phosphate mannosyltransferase subunit 3, regulatory Q9P2X0
C0878544 Cardiomyopathies MGAT1 4245 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase P26572
C0878544 Cardiomyopathies ALG1 56052 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Q9BT22
C0878544 Cardiomyopathies POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0878544 Cardiomyopathies FKRP 79147 fukutin related protein Q9H9S5
C0878544 Cardiomyopathies ST3GAL4 6484 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 Q11206
C0878544 Cardiomyopathies POMK 84197 protein O-mannose kinase Q9H5K3
C0878544 Cardiomyopathies CHST3 9469 carbohydrate sulfotransferase 3 Q7LGC8
C0878544 Cardiomyopathies GNE 10020 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Q9Y223
C0878544 Cardiomyopathies GAA 2548 glucosidase alpha, acid P10253
C0878544 Cardiomyopathies GLA 2717 galactosidase alpha P06280
C0878544 Cardiomyopathies GLB1 2720 galactosidase beta 1 P16278
C0878544 Cardiomyopathies GUSB 2990 glucuronidase beta P08236
C0878544 Cardiomyopathies IDUA 3425 alpha-L-iduronidase P35475

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Last updated: August 19, 2024