WASHC1, WASH complex subunit 1, 100287171

N. diseases: 18; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 Biomarker disease BEFREE Here we summarise recent advances in defining the neuroprotective role of retromer and how its de-regulation may contribute to Parkinson's disease by interfering with: lysosomal health and protein degradation, association with accessory proteins including the WASH complex and mitochondrial health. 28399507 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 GeneticVariation disease BEFREE A hereditary Parkinson's-disease-causing point mutation (D620N) in the retromer subunit VPS35 perturbs retromer's association with the WASH complex and also with the uncharacterized protein ankyrin-repeat-domain-containing protein 50 (ANKRD50). 27909246 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 GeneticVariation disease BEFREE Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy. 24819384 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE MTSS1 expression led to a marked reduction in levels of functional cortacin (pcortactin Y421), an actin nucleation-promoting factor that has a crucial role in cancer cell invasion and metastasis. 28068324 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE Phosphorylation of the actin nucleation-promoting factor and actin-stabilizing protein cortactin downstream of the epidermal growth factor receptor-Src-Arg kinase cascade is known to be a critical trigger for invadopodium maturation and subsequent cell invasion in breast cancer cells. 28356423 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE MTSS1 expression led to a marked reduction in levels of functional cortacin (pcortactin Y421), an actin nucleation-promoting factor that has a crucial role in cancer cell invasion and metastasis. 28068324 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE MTSS1 expression led to a marked reduction in levels of functional cortacin (pcortactin Y421), an actin nucleation-promoting factor that has a crucial role in cancer cell invasion and metastasis. 28068324 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE WASH regulates the trafficking of endosomal α5β1 integrin to the plasma membrane and is fundamental for integrin-driven cell morphology changes and integrin-mediated cancer cell invasion. 22114305 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE WASH regulates the trafficking of endosomal α5β1 integrin to the plasma membrane and is fundamental for integrin-driven cell morphology changes and integrin-mediated cancer cell invasion. 22114305 2011
CUI: C0002871
Disease: Anemia
Anemia 		0.010 Biomarker disease BEFREE Herein, we designed a cluster-randomized controlled trial to study the efficacy of two educational-plus-therapeutic interventions in the reduction of anemia: one in nutrition and the other in WASH/Malaria. 30764549 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE Thus, patients harboring mutations in components of the WASH complex could be at risk for developing type 2 diabetes. 30425062 2019
CUI: C0024530
Disease: Malaria
Malaria 		0.010 Biomarker disease BEFREE Herein, we designed a cluster-randomized controlled trial to study the efficacy of two educational-plus-therapeutic interventions in the reduction of anemia: one in nutrition and the other in WASH/Malaria. 30764549 2019
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 GeneticVariation disease BEFREE The causes of undernutrition are often linked to inadequate access to water, sanitation and hygiene services but limited evidence exists on the direct association between poor WASH practices and children's' nutritional statuses. 31500268 2019
CUI: C0277356
Disease: Tunga penetrans infestation
Tunga penetrans infestation 		0.010 Biomarker disease BEFREE There is a clear role for public health workers to expand the WASH policy to include washing of feet with soap in school-aged children to fight tungiasis and to raise awareness of the importance of sealed floors. 31095558 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 AlteredExpression group BEFREE Overexpression of HSBP1 in breast tumors is associated with increased levels of WASH complexes and with poor prognosis for patients. 29844016 2018
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 GeneticVariation phenotype BEFREE Increasing achievement of multiple WASH targets together was associated with a lower odds of pupils having diarrhea (<i>P</i> trend < 0.01) and having respiratory symptoms (<i>P</i> trend < 0.01), but was not associated with roll-call absence (<i>P</i> trend = 0.14) or pupil-reported absence (<i>P</i> trend = 0.41). 28093534 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE MTSS1 expression led to a marked reduction in levels of functional cortacin (pcortactin Y421), an actin nucleation-promoting factor that has a crucial role in cancer cell invasion and metastasis. 28068324 2017
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
Signs and Symptoms, Respiratory 		0.010 GeneticVariation group BEFREE Increasing achievement of multiple WASH targets together was associated with a lower odds of pupils having diarrhea (<i>P</i> trend < 0.01) and having respiratory symptoms (<i>P</i> trend < 0.01), but was not associated with roll-call absence (<i>P</i> trend = 0.14) or pupil-reported absence (<i>P</i> trend = 0.41). 28093534 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 Biomarker group BEFREE USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder. 26365382 2015
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		0.010 Biomarker disease BEFREE The Washington University in St. Louis Kiddie-Schedule for Affective Disorders and Schizophrenia (WASH-U KSADS) was administered to children (AR) who had at least one parent with BPD (N=36) and children of healthy parents (HC) (N=27), by raters who were blind to diagnostic category. 16698037 2007
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 Biomarker disease BEFREE The Washington University in St. Louis Kiddie-Schedule for Affective Disorders and Schizophrenia (WASH-U KSADS) was administered to children (AR) who had at least one parent with BPD (N=36) and children of healthy parents (HC) (N=27), by raters who were blind to diagnostic category. 16698037 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 GeneticVariation disease BEFREE The Washington University in St. Louis Kiddie-Schedule for Affective Disorders and Schizophrenia (WASH-U KSADS) was administered to children (AR) who had at least one parent with BPD (N=36) and children of healthy parents (HC) (N=27), by raters who were blind to diagnostic category. 16698037 2007
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.010 Biomarker group BEFREE The Washington University in St. Louis Kiddie-Schedule for Affective Disorders and Schizophrenia (WASH-U KSADS) was administered to children (AR) who had at least one parent with BPD (N=36) and children of healthy parents (HC) (N=27), by raters who were blind to diagnostic category. 16698037 2007