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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
C0302894	Stucco keratosis	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0024301	Lymphoma, Follicular	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0014173	Endometrial Hyperplasia	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0014116	Endocardial Cushion Defects	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C1096903	Sialic Acid Storage Disease, Finnish Type (disorder)	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0221232	Welts	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C1707291	NUT midline carcinoma	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0878544	Cardiomyopathies	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0206695	Carcinoma, Neuroendocrine	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0279663	Serous cystadenocarcinoma ovary	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0013274	Patent ductus arteriosus	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0027873	Neuromyelitis Optica	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0495640	Congenital malformation syndromes involving early overgrowth	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C4082937	Necrotizing enterocolitis in fetus OR newborn	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0151468	Thyroid Gland Follicular Adenoma	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0026010	Microphthalmos	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0687720	Central Diabetes Insipidus	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0010068	Coronary heart disease	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0409974	Lupus Erythematosus	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0238019	Carcinoma of extrahepatic bile duct	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0078918	Albinism, Oculocutaneous	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0016057	Fibrosarcoma	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0085215	Ovarian Failure, Premature	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0677607	Hashimoto Disease	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0278608	Adult Liposarcoma	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336

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