Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 Biomarker disease BEFREE Using ultraviolet-visible (UV-vis) spectroscopy, fingerprints from volunteers who had used marijuana were analyzed via a competitive immunoassay for the detection of Δ<sup>9</sup>-tetrahydrocannabinol (Δ<sup>9</sup>-THC), the main psychoactive component of marijuana, and 11-nor-9-carboxy-THC (THC-COOH), one of the main metabolites produced in the body following the use/consumption of THC-related products. 31793770 2019
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 AlteredExpression disease BEFREE The time-related increase in home-cage activity upon abrupt discontinuation of chronic Δ9-THC treatment, as well as the effects of rimonabant to increase activity in monkeys receiving chronic, but not intermittent, Δ9-THC treatment, are consistent with signs of physical dependence on Δ9-THC in primates. 30861005 2019
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 Biomarker disease BEFREE The present study focused on 11-nor-9carboxy-Δ9-THC (THC-COOH) and Benzoylecgonine (BE), the most common metabolites of cannabis and cocaine, respectively, present in the domestic sewage entering the wastewater treatment plants. 30690404 2019
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 Biomarker disease BEFREE Our findings about the nature of WIP·WASp complex formation are relevant for ongoing efforts to understand hematopoietic cell behavior, paving the way for new therapeutic approaches to WAS and XLT. 29215267 2018
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 Biomarker disease BEFREE In human T<sub>H</sub>1- or T<sub>H</sub>2-skewing cell culture systems, cotranscriptional R-loops (RNA/DNA duplex and displaced single-stranded DNA) and DNA double-strand breaks (DSBs) were monitored in multiple samples from patients with XLT and WAS and in normal T cells depleted of WASp. 29248492 2018
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 Biomarker disease BEFREE Both irinotecan and irinotecan + Δ<sup>9</sup>-THC administration caused moderate leukopenia but a greater decrease in leukocyte count was observed in the irinotecan + Δ<sup>9</sup>-THC treated compared to the single irinotecan suggesting higher cytotoxic effects in combined treatment. 30130528 2018
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases. 28623282 2017
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 GeneticVariation disease BEFREE In total, three patients revealed low expression of WASP associated with a <i>WAS</i> gene c.1378 C>T p.Pro460Ser mutation, which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia. 29358862 2017
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 Biomarker disease BEFREE Stability for THC, 11-nor-9-carboxy-THC (THCCOOH), ∆<sup>9</sup> -tetrahydrocannabivarin (THCV), cannabidiol (CBD), and cannabigerol (CBG) were determined after storage at 4 °C for 1, 2, and 3 months. 27539096 2017
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 Biomarker disease BEFREE 11-nor-Δ<sup>9</sup>-Tetrahydrocannabinol-9-carboxylic acid glucuronide (THCCOOH-glucuronide) is an 1-β-O-acyl glucuronide which degrades not only to 11-nor-9-carboxy-Δ<sup>9</sup>-THC (THCCOOH) but, additionally, to an isomer with a currently unknown structure. 28892757 2017
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR Defective thymic output in WAS patients is associated with abnormal actin organization. 28931895 2017
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 GeneticVariation disease BEFREE Molecular analysis of the first case identified a mutation in exon 2 of the gene coding for WASP, leading to a p.Thr45Met amino acid change and confirming the diagnosis of X-linked thrombocytopenia. 28641574 2017
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 Biomarker disease BEFREE THC, 11-hydroxy-THC (11-OH-THC), 11-nor-9-carboxy-THC (THCCOOH), tetrahydrocannabivarin (THCV), cannabidiol (CBD), and cannabigerol (CBG) were quantified by liquid chromatography-tandem mass spectrometry. 27647820 2017
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 25792466 2015
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells. 26261240 2015
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 GeneticVariation disease BEFREE We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndrome; a missense mutation in a patient with X-linked thrombocytopenia; and mutations in the RUNX1 gene of five patients with familial platelet disorder with propensity to acute myelogenous leukemia, and in the ANKRD26 gene of four patients with autosomal dominant thrombocytopenia-2. 26175287 2015
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation. 25931402 2015
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 GeneticVariation disease BEFREE We analyzed two WASP missense mutants (L46P and A47D) causing XLT for their effects on T cell chemotaxis. 25200405 2014
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature. 25332606 2014
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR [Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome]. 25476427 2014
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome. 23033889 2013
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration. 23160469 2013
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR Molecular basis of Wiskott-Aldrich syndrome in patients from India. 22679904 2012
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome. 22426750 2012
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder)
0.800 CausalMutation disease CLINVAR Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. 22523910 2012