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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

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Disease ID	Disease Name	Gene Symbol	Gene ID	Gene Name ▲	UniProt ID
C0020676	Hypothyroidism	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0687751	Acanthocytosis	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0026850	Muscular Dystrophy	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0751336	Distal Muscular Dystrophies	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0033680	Protein-Losing Enteropathies	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0013336	Dwarfism	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0020598	Hypocalcemia	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0017601	Glaucoma	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C1306459	Primary malignant neoplasm	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0006826	Malignant Neoplasms	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0242287	Isaacs syndrome	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0023530	Leukopenia	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0235991	Small for gestational age (disorder)	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0024141	Lupus Erythematosus, Systemic	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0027849	Neuroleptic Malignant Syndrome	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0010054	Coronary Arteriosclerosis	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0010417	Cryptorchidism	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0040034	Thrombocytopenia	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C1384666	hearing impairment	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0238198	Gastrointestinal Stromal Tumors	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C1836230	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0010068	Coronary heart disease	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0036220	Kaposi Sarcoma	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C0023470	Myeloid Leukemia	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443
C4082304	Oligodontia	PIK3C2A	5286	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	O00443

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