Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.800 GeneticVariation BEFREE Heterozygous mutations in <i>PIK3CD, PIK3R1</i>, or <i>PTEN</i>, which are related to the hyperactive phosphoinositide 3-kinase (PI3K) signaling, were recently presented to cause APDS1 or APDS2 (APDSs), or APDS-like (APDS-L) disorder. 29675019

2018
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.800 Biomarker BEFREE This led to the ongoing clinical trials of selective PI3Kδ inhibitors in APDS patients. 29535736

2018
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.800 AlteredExpression BEFREE Our results demonstrate a new influence of PI3K on human T cell differentiation that is unrelated to its lipid-kinase activity and suggest that T<sub>FH</sub> should be monitored in APDS patients. 31031754

2019
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.800 GeneticVariation BEFREE Activated PI3Kδ syndrome (APDS) Type I results from gain-of-function mutations in PIK3CD, which encodes the p110δ subunit of PI3Kδ. 31760094

2020