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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 43451 - 43475 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Gene Name UniProt ID
C0015625 Fanconi Anemia PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0033300 Progeria PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0206687 Carcinoma, Endometrioid PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0079731 B-Cell Lymphomas PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C1527336 Sjogren's Syndrome PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0751295 Memory Loss PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0007965 Chediak-Higashi Syndrome PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C3888004 HERMANSKY-PUDLAK SYNDROME 5 PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0004364 Autoimmune Diseases PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C2936904 Opitz GBBB Syndrome, X-Linked PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C1563705 Nephrogenic Diabetes Insipidus, Type I PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C3203102 Idiopathic pulmonary arterial hypertension PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0007137 Squamous cell carcinoma PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0036529 Myocardial Diseases, Secondary PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0018798 Congenital Heart Defects PIGV 55650 phosphatidylinositol glycan anchor biosynthesis class V Q9NUD9
C0025362 Mental Retardation PIGV 55650 phosphatidylinositol glycan anchor biosynthesis class V Q9NUD9
C0039446 Telangiectasis PIGV 55650 phosphatidylinositol glycan anchor biosynthesis class V Q9NUD9
C0020295 Hydronephrosis PIGV 55650 phosphatidylinositol glycan anchor biosynthesis class V Q9NUD9
C0019569 Hirschsprung Disease PIGV 55650 phosphatidylinositol glycan anchor biosynthesis class V Q9NUD9
C0018784 Sensorineural Hearing Loss (disorder) PIGV 55650 phosphatidylinositol glycan anchor biosynthesis class V Q9NUD9
C3714756 Intellectual Disability PIGV 55650 phosphatidylinositol glycan anchor biosynthesis class V Q9NUD9
C0271270 Oculovestibuloauditory syndrome PIGV 55650 phosphatidylinositol glycan anchor biosynthesis class V Q9NUD9
C0027066 Myoclonus PIGV 55650 phosphatidylinositol glycan anchor biosynthesis class V Q9NUD9
C0020490 Hyperopia PIGV 55650 phosphatidylinositol glycan anchor biosynthesis class V Q9NUD9
C0079924 Oligohydramnios PIGV 55650 phosphatidylinositol glycan anchor biosynthesis class V Q9NUD9
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Last updated: August 19, 2024