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 62176 - 62200 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name ▼ UniProt ID
C0020500 Hyperoxaluria HOGA1 112817 4-hydroxy-2-oxoglutarate aldolase 1 Q86XE5
C0008370 Cholestasis HOGA1 112817 4-hydroxy-2-oxoglutarate aldolase 1 Q86XE5
C0027709 Nephrocalcinosis HOGA1 112817 4-hydroxy-2-oxoglutarate aldolase 1 Q86XE5
C1833683 NEPHROLITHIASIS, CALCIUM OXALATE HOGA1 112817 4-hydroxy-2-oxoglutarate aldolase 1 Q86XE5
C0022661 Kidney Failure, Chronic HOGA1 112817 4-hydroxy-2-oxoglutarate aldolase 1 Q86XE5
C3463824 MYELODYSPLASTIC SYNDROME ABAT 18 4-aminobutyrate aminotransferase P80404
C0270824 Visual seizure ABAT 18 4-aminobutyrate aminotransferase P80404
C0342708 Gamma aminobutyric acid transaminase deficiency ABAT 18 4-aminobutyrate aminotransferase P80404
C1510586 Autism Spectrum Disorders ABAT 18 4-aminobutyrate aminotransferase P80404
C0014544 Epilepsy ABAT 18 4-aminobutyrate aminotransferase P80404
C0238111 Lennox-Gastaut syndrome ABAT 18 4-aminobutyrate aminotransferase P80404
C0037769 West Syndrome ABAT 18 4-aminobutyrate aminotransferase P80404
C0242422 Parkinsonian Disorders ABAT 18 4-aminobutyrate aminotransferase P80404
C0006826 Malignant Neoplasms ABAT 18 4-aminobutyrate aminotransferase P80404
C0282513 Primary Progressive Aphasia (disorder) ABAT 18 4-aminobutyrate aminotransferase P80404
C0004352 Autistic Disorder ABAT 18 4-aminobutyrate aminotransferase P80404
C0751494 Convulsive Seizures ABAT 18 4-aminobutyrate aminotransferase P80404
C1306459 Primary malignant neoplasm ABAT 18 4-aminobutyrate aminotransferase P80404
C0751495 Seizures, Focal ABAT 18 4-aminobutyrate aminotransferase P80404
C0036572 Seizures ABAT 18 4-aminobutyrate aminotransferase P80404
C0376545 Hematologic Neoplasms ABAT 18 4-aminobutyrate aminotransferase P80404
C0270857 Epilepsy, Reflex ABAT 18 4-aminobutyrate aminotransferase P80404
C0027651 Neoplasms ABAT 18 4-aminobutyrate aminotransferase P80404
C0525045 Mood Disorders ABAT 18 4-aminobutyrate aminotransferase P80404
C0020179 Huntington Disease ABAT 18 4-aminobutyrate aminotransferase P80404

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Last updated: August 19, 2024