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 53701 - 53725 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name ▲ UniProt ID
C0025958 Microcephaly PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0085110 Severe Combined Immunodeficiency PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0085584 Encephalopathies PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0340968 Deficiency of pyruvate kinase PKLR 5313 pyruvate kinase L/R P30613
C4552000 Episodic Kinesigenic Dyskinesia 1 PKLR 5313 pyruvate kinase L/R P30613
C0006142 Malignant neoplasm of breast PKLR 5313 pyruvate kinase L/R P30613
C0235782 Gallbladder Carcinoma PKLR 5313 pyruvate kinase L/R P30613
C0002871 Anemia PKLR 5313 pyruvate kinase L/R P30613
C0023903 Liver neoplasms PKLR 5313 pyruvate kinase L/R P30613
C0024121 Lung Neoplasms PKLR 5313 pyruvate kinase L/R P30613
C1269683 Major Depressive Disorder PKLR 5313 pyruvate kinase L/R P30613
C0002878 Anemia, Hemolytic PKLR 5313 pyruvate kinase L/R P30613
C0235974 Pancreatic carcinoma PKLR 5313 pyruvate kinase L/R P30613
C0024530 Malaria PKLR 5313 pyruvate kinase L/R P30613
C0346647 Malignant neoplasm of pancreas PKLR 5313 pyruvate kinase L/R P30613
C4551637 Erythrocytosis familial, 1 PKLR 5313 pyruvate kinase L/R P30613
C0011847 Diabetes PKLR 5313 pyruvate kinase L/R P30613
C0600139 Prostate carcinoma PKLR 5313 pyruvate kinase L/R P30613
C0011860 Diabetes Mellitus, Non-Insulin-Dependent PKLR 5313 pyruvate kinase L/R P30613
C0018939 Hematological Disease PKLR 5313 pyruvate kinase L/R P30613
C0008325 Cholecystitis PKLR 5313 pyruvate kinase L/R P30613
C0027651 Neoplasms PKLR 5313 pyruvate kinase L/R P30613
C2239176 Liver carcinoma PKLR 5313 pyruvate kinase L/R P30613
C0002882 Anemia, Hemolytic, Congenital Nonspherocytic PKLR 5313 pyruvate kinase L/R P30613
C0153452 Malignant neoplasm of gallbladder PKLR 5313 pyruvate kinase L/R P30613

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Last updated: August 19, 2024