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 9101 - 9125 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C0085650 Purpura Fulminans PC 5091 pyruvate carboxylase P11498
C0034150 Purpura COMT 1312 catechol-O-methyltransferase P21964
C0034150 Purpura SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0034150 Purpura CALR 811 calreticulin P27797
C0034150 Purpura GLUL 2752 glutamate-ammonia ligase P15104
C0034150 Purpura CAT 847 catalase P04040
C0268125 Purine-nucleoside phosphorylase deficiency PNP 4860 purine nucleoside phosphorylase P00491
C0687149 Pure gonadal dysgenesis PGD 5226 phosphogluconate dehydrogenase P52209
C0034902 Pure Red-Cell Aplasia ABO 28 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase P16442
C0034902 Pure Red-Cell Aplasia CD38 952 CD38 molecule P28907
C0034902 Pure Red-Cell Aplasia SULF2 55959 sulfatase 2 Q8IWU5
C0393911 Pure Autonomic Failure PRNP 5621 prion protein P04156
C0393911 Pure Autonomic Failure PRNP 5621 prion protein F7VJQ1
C0034103 Pulpitis IL1R1 3554 interleukin 1 receptor type 1 P14778
C0034103 Pulpitis SIRT6 51548 sirtuin 6 Q8N6T7
C0034103 Pulpitis IL18R1 8809 interleukin 18 receptor 1 Q13478
C4551905 Pulmonary Venous Return Anomaly LFNG 3955 LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Q8NES3
C4551905 Pulmonary Venous Return Anomaly DHCR24 1718 24-dehydrocholesterol reductase Q15392
C0034089 Pulmonary Valve Stenosis GALNT1 2589 polypeptide N-acetylgalactosaminyltransferase 1 Q10472
C0034089 Pulmonary Valve Stenosis ARSD 414 arylsulfatase D P51689
C0034088 Pulmonary Valve Insufficiency SFTPA1 653509 surfactant protein A1 Q8IWL2
C0034088 Pulmonary Valve Insufficiency SFTPA2 729238 surfactant protein A2 Q8IWL1
C0034088 Pulmonary Valve Insufficiency SFTPC 6440 surfactant protein C P11686
C0524702 Pulmonary Thromboembolisms QTRT1 81890 queuine tRNA-ribosyltransferase catalytic subunit 1 Q9BXR0
C0524702 Pulmonary Thromboembolisms DPEP1 1800 dipeptidase 1 P16444

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Last updated: August 19, 2024