SNX27, sorting nexin 27, 81609

N. diseases: 24; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 GeneticVariation disease BEFREE Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities. 31721175 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 Biomarker disease GENOMICS_ENGLAND Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome. 23524343 2013
CUI: C0036572
Disease: Seizures
Seizures
0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome. 23524343 2013
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome. 23524343 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker group GENOMICS_ENGLAND Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome. 23524343 2013
Early Infantile Epileptic Encephalopathy 6
0.100 CausalMutation disease CLINVAR
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.030 Biomarker disease BEFREE Moreover, SNX27 deficiency is an important contributor for synaptic and cognitive impairment in DS. 29632483 2018
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.030 Biomarker disease BEFREE Moreover, SNX27 deficiency is an important contributor for synaptic and cognitive impairment in DS. 29632483 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.030 Biomarker disease BEFREE In addition, we find that γ-secretase/Notch modulation may be a candidate drug target in SNX27-associated hydrocephalus such as that observed in DS. 27974614 2016
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.030 AlteredExpression disease BEFREE Interestingly, trisomy-linked down-regulation of SNX27 expression in the brain of Ts65Dn mice, a model of Down syndrome, correlates with a decrease in GPR17(+) cells and an increase in mature oligodendrocytes, which, however, fail in reaching full maturation, eventually leading to hypomyelination. 27270750 2016
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.030 AlteredExpression disease BEFREE Interestingly, trisomy-linked down-regulation of SNX27 expression in the brain of Ts65Dn mice, a model of Down syndrome, correlates with a decrease in GPR17(+) cells and an increase in mature oligodendrocytes, which, however, fail in reaching full maturation, eventually leading to hypomyelination. 27270750 2016
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.030 Biomarker disease BEFREE In addition, we find that γ-secretase/Notch modulation may be a candidate drug target in SNX27-associated hydrocephalus such as that observed in DS. 27974614 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 Biomarker disease BEFREE SNX27-retromer assembly recycles MT1-MMP to invadopodia and promotes breast cancer metastasis. 31820782 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 Biomarker disease BEFREE SNX27-retromer assembly recycles MT1-MMP to invadopodia and promotes breast cancer metastasis. 31820782 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 Biomarker disease BEFREE In this study, we analyzed the phenotype of the familial AD APP/PS mouse strain lacking one copy of the SNX27 gene. 30797171 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 Biomarker disease BEFREE SNX27 is a trafficking component required for normal brain function whose deficit has been linked to Alzheimer's disease (AD) pathogenesis. 31000624 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 Biomarker disease BEFREE We have generated a stable SNX27 knockdown clone in a highly aggressive breast cancer cell line MDA-MB-231 using an inducible lentiviral shRNA system. 31182056 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.020 Biomarker disease BEFREE These data suggest that downregulation of SNX27 alone does not have long-term negative consequences on spatial memory, but that cognitive dysfunction in the context of high Aβ deposition is exacerbated by the cellular or molecular changes induced by reduced SNX27 function. 30797171 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 Biomarker disease BEFREE We have generated a stable SNX27 knockdown clone in a highly aggressive breast cancer cell line MDA-MB-231 using an inducible lentiviral shRNA system. 31182056 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.020 Biomarker disease BEFREE Moreover, SNX27 deficiency is an important contributor for synaptic and cognitive impairment in DS. 29632483 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.020 Biomarker group BEFREE SNX27 deficiency is now added to the growing list of neurodegenerative disorders associated with retromer dysfunction. 25894286 2015
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.020 Biomarker group BEFREE With disruption of SNX27 and retromer function linked to synaptic dysfunction and neurodegenerative disease, our work provides the first step, to our knowledge, in the molecular description of this important sorting complex, and more broadly describes a unique interaction between a PDZ domain and an arrestin-like fold. 25136126 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE SNX27-retromer assembly recycles MT1-MMP to invadopodia and promotes breast cancer metastasis. 31820782 2020
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.010 GeneticVariation phenotype BEFREE Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities. 31721175 2020
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
0.010 AlteredExpression disease BEFREE Analysis from a publicly available database showed SNX27 to be overexpressed or frequently altered in the patients having invasive breast cancer. 31820782 2020