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 9226 - 9250 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▼
C0018939 Hematological Disease MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C1306459 Primary malignant neoplasm MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C0010054 Coronary Arteriosclerosis MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C0005779 Blood Coagulation Disorders MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C1956346 Coronary Artery Disease MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C1306589 Congenital dyserythropoietic anemia, type II MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C0006826 Malignant Neoplasms MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C0042880 Vitamin K Deficiency MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C2873785 Deficiency of factor V [labile] MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C0010068 Coronary heart disease MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C0019069 Hemophilia A MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C3494187 Factor VIII Deficiency MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C0036631 Seminoma MCFD2 90411 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Q8NI22
C1861922 CAMPOMELIC DYSPLASIA B4GALNT2 124872 beta-1,4-N-acetyl-galactosaminyltransferase 2 Q8NHY0
C1306459 Primary malignant neoplasm B4GALNT2 124872 beta-1,4-N-acetyl-galactosaminyltransferase 2 Q8NHY0
C0027651 Neoplasms B4GALNT2 124872 beta-1,4-N-acetyl-galactosaminyltransferase 2 Q8NHY0
C0238052 Xanthomatosis, Cerebrotendinous B4GALNT2 124872 beta-1,4-N-acetyl-galactosaminyltransferase 2 Q8NHY0
C0006826 Malignant Neoplasms B4GALNT2 124872 beta-1,4-N-acetyl-galactosaminyltransferase 2 Q8NHY0
C0026850 Muscular Dystrophy B4GALNT2 124872 beta-1,4-N-acetyl-galactosaminyltransferase 2 Q8NHY0
C0007097 Carcinoma B4GALNT2 124872 beta-1,4-N-acetyl-galactosaminyltransferase 2 Q8NHY0
C1956346 Coronary Artery Disease B4GALNT2 124872 beta-1,4-N-acetyl-galactosaminyltransferase 2 Q8NHY0
C0013264 Muscular Dystrophy, Duchenne B4GALNT2 124872 beta-1,4-N-acetyl-galactosaminyltransferase 2 Q8NHY0
C0678222 Breast Carcinoma SGMS2 166929 sphingomyelin synthase 2 Q8NHU3
C0029456 Osteoporosis SGMS2 166929 sphingomyelin synthase 2 Q8NHU3
C0015695 Fatty Liver SGMS2 166929 sphingomyelin synthase 2 Q8NHU3

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