MSN, moesin, 4478

N. diseases: 140; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 CausalMutation disease CLINVAR Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. 29556235 2018
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 Biomarker disease GENOMICS_ENGLAND Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. 29556235 2018
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 CausalMutation disease CLINVAR First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID. 28378256 2017
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 GermlineCausalMutation disease ORPHANET X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. 27405666 2016
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 CausalMutation disease CLINVAR X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. 27405666 2016
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 GeneticVariation disease UNIPROT X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. 27405666 2016
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 Biomarker disease CTD_human
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.300 Biomarker disease GENOMICS_ENGLAND Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. 29556235 2018
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.300 Biomarker disease CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066 2009
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		0.300 Biomarker disease CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066 2009
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C4552091
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Negative
Polyarthritis, Juvenile, Rheumatoid Factor Negative 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C4704862
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Positive
Polyarthritis, Juvenile, Rheumatoid Factor Positive 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.300 Biomarker disease CTD_human Cardioplegia prevents ischemia-induced transcriptional alterations of cytoprotective genes in rat hearts: a DNA microarray study. 16214533 2005
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.110 Biomarker disease BEFREE Mutations in the moesin gene in humans are associated with primary immunodeficiency with profound lymphopenia, and moesin-deficient mice exhibit a similar lymphopenia phenotype. 28978692 2017
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.110 Biomarker disease HPO
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 Biomarker phenotype BEFREE Moesin, a cytoskeletal protein belonging to the ezrin-radixin-moesin family serves important roles in cell motility, invasion and metastasis. 30675256 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 Biomarker phenotype BEFREE Interestingly, benefiting from the biodegraded debris, it was found that CD@MSN-mediated PTT can synergistically achieve immune-mediated inhibition of tumor metastasis via stimulating the proliferation and activation of natural killer cells and macrophages with simultaneously up-regulating the secretion of corresponding cytokines (IFN-γ and Granzyme B). 31682447 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE In vivo antitumor results demonstrated that DOX/MSN@CaCO<sub>3</sub>@CM administration could remarkably suppress the tumor growth. 30572156 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE In vivo imaging of breast tumor-bearing mice treated with PEGylated MSNs-Pt-Dy800 (PEG-MSNs-Pt-Dy800) showed significantly improved contrasts in both fluorescence and CT imaging and the signal intensity within the tumor retained for 24 h post-injection. 30925712 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 Biomarker phenotype BEFREE Moesin, a cytoskeletal protein belonging to the ezrin-radixin-moesin family serves important roles in cell motility, invasion and metastasis. 30675256 2019