PLEK, pleckstrin, 5341

N. diseases: 83; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 Biomarker group BEFREE Pleckstrin homology domain leucine-rich repeat protein phosphatase (PHLPP) isozymes comprise a novel tumor suppressor family whose two members, PHLPP1 and PHLPP2, are deleted as frequently as PTEN in cancers such as those of the prostate. 24392697 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 Biomarker group BEFREE Pleckstrin homology domain-containing protein PHLDB3 supports cancer growth via a negative feedback loop involving p53. 28008906 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 Biomarker group BEFREE Pleckstrin homology domain-containing protein PHLDB3 supports cancer growth via a negative feedback loop involving p53. 28008906 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 Biomarker group BEFREE Pleckstrin homology domain leucine-rich repeat protein phosphatase 2 (PHLPP2) has been known to exert tumor suppressive activity for long without much knowledge about its regulation and implications. 29626488 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 Biomarker group BEFREE Pleckstrin homology domain leucine-rich repeat protein phosphatase 2 (PHLPP2) is a tumor suppressor that catalyzes the de-phosphorylation of the AGC kinases, while p27 acts as a tumor suppressor that regulates cell cycle, apoptosis, and cell motility. 29930380 2018
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.020 GeneticVariation group BEFREE A male CGD patient with pg91(phox) deficiency exhibited a trend toward prolongation of this calcium response, whereas two other CGD patients (one with p47 and one with 67(phox) deficiencies) had normal calcium transients. 15527168 2004
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
0.020 GeneticVariation disease BEFREE A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). 10930571 2000
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation group BEFREE A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. 17611497 2007
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 GeneticVariation group BEFREE A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. 17611497 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 Biomarker phenotype BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 17918192 2008
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 Biomarker phenotype BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 18381585 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 Biomarker group BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 17918192 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 Biomarker group BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 17918192 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 Biomarker group BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 18381585 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 Biomarker group BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 18381585 2008
CUI: C0025202
Disease: melanoma
melanoma
0.020 GeneticVariation disease BEFREE Absence of mutations in the pleckstrin homology (PH) domain of protein kinase B (PKB/Akt) in malignant melanoma. 11828257 2002
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.020 GeneticVariation disease BEFREE AKT1 pleckstrin homology domain E17K activating mutation in endometrial carcinoma. 19853286 2010
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.010 GeneticVariation disease BEFREE AKT1 E17 K pleckstrin homology domain mutation in urothelial carcinoma. 19389506 2009
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.010 GeneticVariation disease BEFREE AKT1 E17 K pleckstrin homology domain mutation in urothelial carcinoma. 19389506 2009
Paroxysmal kinesigenic choreoathetosis
0.010 Biomarker disease BEFREE All 6 cases presented with typical paroxysmal kinesigenic dyskinesia characteristics, except for the Dishevelled, Egl-10, and Pleckstrin domain containing 5 family, where the proband's mother had abnormal discharges in her temporal lobes in addition to paroxysmal kinesigenic dyskinesia episodes. 29356177 2018
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1
0.010 Biomarker disease BEFREE All 6 cases presented with typical paroxysmal kinesigenic dyskinesia characteristics, except for the Dishevelled, Egl-10, and Pleckstrin domain containing 5 family, where the proband's mother had abnormal discharges in her temporal lobes in addition to paroxysmal kinesigenic dyskinesia episodes. 29356177 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 AlteredExpression phenotype BEFREE Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis. 26578795 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 GeneticVariation group BEFREE An Inhibitor of the Pleckstrin Homology Domain of CNK1 Selectively Blocks the Growth of Mutant KRAS Cells and Tumors. 31040156 2019
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.010 Biomarker disease BEFREE APC interacts with the Rac1-specific guanine-nucleotide exchange factor (GEF) Asef, which contains an APC-binding region (ABR) in addition to Dbl homology (DH), Pleckstrin (PH) and Src homology 3 (SH3) domains. 17599059 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 Biomarker phenotype BEFREE As a multifunctional adaptor protein, APPL1 (adaptor protein containing pleckstrin homology domain, phosphotyrosine binding domain and a leucine zipper motif 1) is overexpressed in many cancers, and has been implicated in tumorigenesis and tumor progression. 28902365 2017