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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
C0280631	Leiomyosarcoma of uterus	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C1266184	Atypical Teratoid Rhabdoid Tumor	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0006160	Brenner Tumor	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0206684	Sebaceous Adenocarcinoma	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C1335975	Skull Base Chordoma	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0205644	Carcinoma, Granular Cell	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C1263846	Attention deficit hyperactivity disorder	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0796663	Childhood Testicular Germ Cell Tumor	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0041234	Chagas Disease	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0025221	Meleda Disease	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0206663	Neuroectodermal Tumor, Primitive	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0004352	Autistic Disorder	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0085413	Polycystic Kidney, Autosomal Dominant	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C1336076	Sporadic Breast Carcinoma	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0154060	Carcinoma in situ of stomach	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0011991	Diarrhea	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0339143	Thyroid associated opthalmopathies	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0242350	Erectile dysfunction	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0334590	Anaplastic Oligodendroglioma	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0151740	Intracranial Hypertension	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0221238	Mesangial proliferative glomerulonephritis	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0398791	Nijmegen Breakage Syndrome	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0010278	Craniosynostosis	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C4011754	Nevus, Keratinocytic, Nonepidermolytic	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336
C0021841	Intestinal Neoplasms	PIK3CA	5290	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	P42336

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