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: C0027651
Disease: Neoplasms
Neoplasms 		0.070 Biomarker group BEFREE The 3-gene subset of PLEK (pleckstrin), NF-kappaB2 (nuclear factor kappa beta-2), and LOC374491 (TPTE and PTEN homologous inositol phosphatase pseudogene) was identified as the minimal subset capable of accurately distinguishing tumors according to recurrence. 16575538 2006
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
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: 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: 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: 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: 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: 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: 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: 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: 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: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.030 GeneticVariation disease BEFREE Dynamin 2 (DNM2)-related dominant centronuclear myopathy is usually a mild disorder, but more severe variants have been associated with mutations affecting the pleckstrin homology (PH) domain of the protein, mainly implicated in different forms of Charcot-Marie-Tooth Disease (CMT). 19932620 2010
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.030 GeneticVariation disease BEFREE We performed a mutational screening of DNM2 exons 13 through 16 encoding the pleckstrin homology domain in a large series of CMT patients with a broad range of nerve conduction velocities and without mutations in more common genes. 17636067 2007
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.030 GeneticVariation disease BEFREE Mutations in GDAP1, YARS, and the pleckstrin homology domain of dynamin 2 lead to an intermediate form of CMT that is characterized by moderately reduced nerve conduction velocity consistent with minor myelin deficits. 16856148 2006
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.030 GeneticVariation disease BEFREE Mutations that cause X-linked agammaglobulinemia (XLA) appear throughout the Bruton tyrosine kinase (Btk) sequence, including the pleckstrin homology (PH) domain. 15082835 2004
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.030 GeneticVariation disease BEFREE Mutations in the pleckstrin homology (PH) domain of the Btk gene cause human X-linked agammaglobulinemia (XLA) and murine X-linked immunodeficiency (Xid). 8939985 1996
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.030 GeneticVariation disease BEFREE Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. 7849006 1995
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.020 Biomarker group BEFREE Here, we identified the XIAP enzymatic substrate p47 as a positive regulator of the <i>I. scapularis</i> IMD network. 30559180 2019
CUI: C0024530
Disease: Malaria
Malaria 		0.020 Biomarker disease BEFREE Our data establish a dual role of P. berghei P47 in vivo and reinforce the use of this parasite to study the impact of the mosquito immune response on human malaria transmission. 28729672 2017
CUI: C0024530
Disease: Malaria
Malaria 		0.020 Biomarker disease BEFREE These key functions make Plasmodium P47 an attractive target to disrupt malaria transmission. 29229188 2017
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.020 GeneticVariation disease BEFREE Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (<i>FGD1</i>) gene, located within the Xp11.21 region, are responsible for the occurrence of ASS. 28587322 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 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