Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		0.010 Biomarker disease BEFREE These results indicate that berberine derivatives have the potential of anti-tumor drugs for RMS therapy.<b>Abbreviations</b>: ARMS: alveolar rhabdomyosarcoma; ERMS: embryonal rhabdomyosarcoma; RMS: rhabdomyosarcoma. 31462179 2020
CUI: C0279612
Disease: Childhood Embryonal Rhabdomyosarcoma
Childhood Embryonal Rhabdomyosarcoma 		0.010 Biomarker disease BEFREE These results indicate that berberine derivatives have the potential of anti-tumor drugs for RMS therapy.<b>Abbreviations</b>: ARMS: alveolar rhabdomyosarcoma; ERMS: embryonal rhabdomyosarcoma; RMS: rhabdomyosarcoma. 31462179 2020
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 GeneticVariation disease BEFREE One hundred five Philadelphia-negative MPN patients, including polycythemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF) were initially screened for JAK2 mutations by amplification-refractory mutation system (ARMS-PCR) methodology and were further subjected to detection of CALR gene mutations by our in-house assay, a PCR based amplicon length differentiation assay (PCR-ALDA). 31248375 2019
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.010 GeneticVariation disease BEFREE BRAF mutation analysis by ARMS-PCR refines thyroid nodule management. 31441082 2019
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		0.010 GeneticVariation disease BEFREE The goal of this study was to evaluate the feasibility of detecting Helicobacter pylori clarithromycin resistance in gastric mucosa using the amplification refractory mutation system combined with quantitative real-time PCR (ARMS-PCR). 30864275 2019
CUI: C0009917
Disease: Contracture
Contracture 		0.010 GeneticVariation disease BEFREE Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures. 28934391 2017
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation disease BEFREE ABCC4 G912T SNP was genotyped in 145 Iranian Philadelphia-negative (Ph<sup>-</sup>) children with ALL using modified tetra-primer ARMS PCR and evaluated for possible association with 3-year disease-free survival (3DFS). 28550450 2017
CUI: C0039730
Disease: Thalassemia
Thalassemia 		0.010 GeneticVariation group BEFREE The ARMS multiplex system was found reliable, cost effective, fast and most applicable for mutation screening of Thalassemia in Surat populations. 28669707 2017
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 GeneticVariation disease BEFREE PSMB8 rs2071464 polymorphism was genotyped using polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) and TAP1 rs1135216 polymorphism was genotyped by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) in 378 patients with vitiligo and 509 controls. 28700671 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE Further investigation is warranted to shed light on the role played by Kidins220 in the dynamic arrangement of the cytoskeleton and epithelial-mesenchymal transition, and its implication in tumourigenesis and cancer progression. 28849114 2017
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.010 Biomarker group BEFREE Mice with Kidins220 knockdown phenotypically present with cardiovascular abnormalities. 28849114 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 GeneticVariation group BEFREE We hence propose that the identified homozygous loss-of-function variant in KIDINS220 causes the phenotype in the presented fetuses, and that this represents a hitherto undescribed severe autosomal recessive neurodevelopmental disorder. 28934391 2017
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 GeneticVariation disease BEFREE PSMB8 rs2071464 polymorphism was genotyped using polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) and TAP1 rs1135216 polymorphism was genotyped by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) in 378 patients with vitiligo and 509 controls. 28700671 2017
CUI: C4054188
Disease: Ph-Like Acute Lymphoblastic Leukemia
Ph-Like Acute Lymphoblastic Leukemia 		0.010 Biomarker disease BEFREE We report a novel fusion of the genes PAX5 and "kinase D-interacting substrate of 220 kDa" (KIDINS220, also known as ARMS) in a Ph-like ALL. 27870151 2017
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 Biomarker group BEFREE The subgroups significantly differed in important features, including specific working memory deficits for PTPRG (n=5); severe negative symptoms, global cognitive deficits and poor educational attainment, suggesting a developmental disorder, for SLC39A13 (n=4); slow processing speed, childhood attention deficit disorder and milder symptoms for TGM5 (n=4); and global cognitive deficits with good educational attainment suggesting neurodegeneration for ARMS/KIDINS220 (n=5). 27211562 2016
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.010 GeneticVariation disease BEFREE For all subjects, DNA was genotyped for APC I1307K and E1317Q polymorphisms using the PCR-ARMS technique. 26314409 2016
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		0.010 Biomarker disease BEFREE The subgroups significantly differed in important features, including specific working memory deficits for PTPRG (n=5); severe negative symptoms, global cognitive deficits and poor educational attainment, suggesting a developmental disorder, for SLC39A13 (n=4); slow processing speed, childhood attention deficit disorder and milder symptoms for TGM5 (n=4); and global cognitive deficits with good educational attainment suggesting neurodegeneration for ARMS/KIDINS220 (n=5). 27211562 2016
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.010 GeneticVariation phenotype BEFREE The subgroups significantly differed in important features, including specific working memory deficits for PTPRG (n=5); severe negative symptoms, global cognitive deficits and poor educational attainment, suggesting a developmental disorder, for SLC39A13 (n=4); slow processing speed, childhood attention deficit disorder and milder symptoms for TGM5 (n=4); and global cognitive deficits with good educational attainment suggesting neurodegeneration for ARMS/KIDINS220 (n=5). 27211562 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 GeneticVariation disease BEFREE Association of Combined Complement Factor H Y402H and ARMS/LOC387715 A69S Polymorphisms with Age-related Macular Degeneration: A Meta-analysis. 27269047 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 Biomarker disease BEFREE The subgroups significantly differed in important features, including specific working memory deficits for PTPRG (n=5); severe negative symptoms, global cognitive deficits and poor educational attainment, suggesting a developmental disorder, for SLC39A13 (n=4); slow processing speed, childhood attention deficit disorder and milder symptoms for TGM5 (n=4); and global cognitive deficits with good educational attainment suggesting neurodegeneration for ARMS/KIDINS220 (n=5). 27211562 2016
CUI: C0339002
Disease: Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type 		0.010 Biomarker disease BEFREE The subgroups significantly differed in important features, including specific working memory deficits for PTPRG (n=5); severe negative symptoms, global cognitive deficits and poor educational attainment, suggesting a developmental disorder, for SLC39A13 (n=4); slow processing speed, childhood attention deficit disorder and milder symptoms for TGM5 (n=4); and global cognitive deficits with good educational attainment suggesting neurodegeneration for ARMS/KIDINS220 (n=5). 27211562 2016
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.010 Biomarker disease BEFREE The subgroups significantly differed in important features, including specific working memory deficits for PTPRG (n=5); severe negative symptoms, global cognitive deficits and poor educational attainment, suggesting a developmental disorder, for SLC39A13 (n=4); slow processing speed, childhood attention deficit disorder and milder symptoms for TGM5 (n=4); and global cognitive deficits with good educational attainment suggesting neurodegeneration for ARMS/KIDINS220 (n=5). 27211562 2016
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		0.010 AlteredExpression disease BEFREE Loss of miR- 4638-5p may lead to CRPC through the activity of Kidins220 and PI3K/AKT pathway. 27329728 2016
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 GeneticVariation disease BEFREE As a tool in psychopathology research, T-ARMS was shown to be capable of detecting five common SNPs in the BDNF gene (rs6265, rs988748, rs11030104, 11757G/C and rs7103411), which are all SNPs with previously demonstrated clinical relevance to schizophrenia and depression. 26118823 2015
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 GeneticVariation disease BEFREE As a tool in psychopathology research, T-ARMS was shown to be capable of detecting five common SNPs in the BDNF gene (rs6265, rs988748, rs11030104, 11757G/C and rs7103411), which are all SNPs with previously demonstrated clinical relevance to schizophrenia and depression. 26118823 2015