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 52301 - 52325 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0878544 Cardiomyopathies ACADVL 37 acyl-CoA dehydrogenase very long chain P49748
C0878544 Cardiomyopathies ACADS 35 acyl-CoA dehydrogenase short chain P16219
C0878544 Cardiomyopathies ARSD 414 arylsulfatase D P51689
C0878544 Cardiomyopathies OLR1 4973 oxidized low density lipoprotein receptor 1 P78380
C0878544 Cardiomyopathies PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0878544 Cardiomyopathies PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0878544 Cardiomyopathies PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0878544 Cardiomyopathies PTEN 5728 phosphatase and tensin homolog P60484
C0878544 Cardiomyopathies PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C0878544 Cardiomyopathies SDHA 6389 succinate dehydrogenase complex flavoprotein subunit A P31040
C0878544 Cardiomyopathies SULT1E1 6783 sulfotransferase family 1E member 1 P49888
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
C0878677 Glycogen Storage Disease Type IIb APRT 353 adenine phosphoribosyltransferase P07741
C0878681 Dent's disease EXT2 2132 exostosin glycosyltransferase 2 Q93063
C0878681 Dent's disease NAGLU 4669 N-acetyl-alpha-glucosaminidase P54802
C0878681 Dent's disease CLC 1178 Charcot-Leyden crystal galectin Q05315
C0878681 Dent's disease OCRL 4952 OCRL inositol polyphosphate-5-phosphatase Q01968
C0878684 SHORT syndrome PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0878684 SHORT syndrome PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0878684 SHORT syndrome PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338

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Last updated: August 19, 2024