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 53551 - 53575 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name ▲ UniProt ID
C0016057 Fibrosarcoma PC 5091 pyruvate carboxylase P11498
C0023520 Leukodystrophy PC 5091 pyruvate carboxylase P11498
C0036323 Schistosomiasis PC 5091 pyruvate carboxylase P11498
C0020550 Hyperthyroidism PC 5091 pyruvate carboxylase P11498
C0037198 Sinus Thrombosis, Intracranial PC 5091 pyruvate carboxylase P11498
C0027051 Myocardial Infarction PC 5091 pyruvate carboxylase P11498
C1850598 Leigh Syndrome due to Mitochondrial Complex III Deficiency PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0026650 Movement Disorders PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0023264 Leigh Disease PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C2931891 Necrotizing encephalopathy, infantile subacute, of Leigh PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0600139 Prostate carcinoma PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0751651 Mitochondrial Diseases PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C1850600 Leigh Syndrome due to Mitochondrial Complex V Deficiency PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0001125 Acidosis, Lactic PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0007758 Cerebellar Ataxia PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0005745 Blepharoptosis PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C1850597 Leigh Syndrome Due To Mitochondrial Complex II Deficiency PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0235946 Cerebral atrophy PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C1839413 Pyruvate Dehydrogenase E1 Alpha Deficiency PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0038379 Strabismus PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0024623 Malignant neoplasm of stomach PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0020555 Hypertrichosis PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C1838951 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0006826 Malignant Neoplasms PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559

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Last updated: August 19, 2024