Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 GeneticVariation phenotype BEFREE A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. 22065524 2012
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		0.110 GeneticVariation disease BEFREE A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. 22065524 2012
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.110 GeneticVariation disease BEFREE A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. 22065524 2012
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE Three new peptides, P101 (FGKQGFFPDSVNKALY, 5.5 nM IC<sub>50</sub>), P102 (TLYALSHAVNSYFDVD, 6.8 nM), and P103 (LYYKEDKTSLSASAAS, 95 nM), were tested in an atherosclerosis model (<i>Apoe<sup>-/-</sup></i> mice on Western diet). 28087520 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE Three new peptides, P101 (FGKQGFFPDSVNKALY, 5.5 nM IC<sub>50</sub>), P102 (TLYALSHAVNSYFDVD, 6.8 nM), and P103 (LYYKEDKTSLSASAAS, 95 nM), were tested in an atherosclerosis model (<i>Apoe<sup>-/-</sup></i> mice on Western diet). 28087520 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group BEFREE Recently, PI3Kγ emerged as being a potential oncogene because overexpression of the catalytic subunit p110γ or the regulatory subunit p101 leads to oncogenic cellular transformation and malignancy. 21996737 2012
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 Biomarker group BEFREE Similarly, the knockdown of p110γ and p101 in murine epithelial carcinoma 4T1.2 cells inhibited primary tumor growth and spontaneous metastasis, as well as lung colonization. 21996737 2012
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 GeneticVariation phenotype BEFREE A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. 22065524 2012
CUI: C0019158
Disease: Hepatitis
Hepatitis 		0.010 Biomarker group BEFREE The DEGs related to liver inflammation between control group and SNE group or SNE and BS15 groups, included cluster of differentiation 80 (CD80), Interleukin 1 beta (IL1B), Phosphoinositide 3- Kinase regulatory subunit 5 (PIK3R5), Toll-like receptor 4 (TLR4), Toll-like receptor 2 A (TLR2A), and proto-oncogene protein (FOS). 31077753 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE These findings are the first to implicate differential functions of the two PI3Kγ regulatory subunits in the process of oncogenesis, and indicate that loss of p101 is sufficient to reduce in vivo tumor growth and metastasis to the same extent as that of p110γ. 21996737 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE For all genes analyzed, only the PIK3R5 gene exhibited differential expression in samples of primary tumors with positive lymph node involvement compared with primary tumors with negative lymph node involvement (P=0.0347). 28123587 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE These results demonstrate that the PIK3R5 gene may be considered predictive of lymph node involvement in breast carcinoma. 28123587 2017
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		0.010 Biomarker group BEFREE NFKB1 encodes the genes for the p50 and p101 nuclear factor-kappaB (NF-kappaB) isoforms, which are recognized as critical to inflammatory disease. 16206345 2005
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation group BEFREE Recently, PI3Kγ emerged as being a potential oncogene because overexpression of the catalytic subunit p110γ or the regulatory subunit p101 leads to oncogenic cellular transformation and malignancy. 21996737 2012
CUI: C3554690
Disease: ATAXIA-OCULOMOTOR APRAXIA 3
ATAXIA-OCULOMOTOR APRAXIA 3 		0.700 CausalMutation disease CLINVAR
CUI: C3554690
Disease: ATAXIA-OCULOMOTOR APRAXIA 3
ATAXIA-OCULOMOTOR APRAXIA 3 		0.700 Biomarker disease CTD_human
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		0.010 AlteredExpression disease LHGDN These findings are the first to implicate altered expression of p101 in malignancy, specifically in T-cell lymphoma. 17486067 2007
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		0.110 Biomarker disease HPO
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.110 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO