Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.630 GeneticVariation disease BEFREE Our work reveals a non-classical spastic paraplegia, intellectual disability, nystagmus, and obesity phenotype for a KIDINS220 mutation, which broadens both the clinical and genetic spectrum for ADHSP. 31630374 2019
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.630 Biomarker disease GENOMICS_ENGLAND Heterozygous KIDINS220 mutation leads to spastic paraplegia and obesity in an Asian girl. 29667355 2018
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.630 GeneticVariation disease BEFREE Heterozygous mutations in KIDINS220 were recently suggested a cause of spastic paraplegia, intellectual disability, nystagmus and obesity. 28934391 2017
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.630 Biomarker disease GENOMICS_ENGLAND Altogether, we here show that de novo protein-truncating KIDINS220 variants cause a new syndrome, SINO. 27005418 2016
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.630 GermlineCausalMutation disease ORPHANET Altogether, we here show that de novo protein-truncating KIDINS220 variants cause a new syndrome, SINO. 27005418 2016
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.630 GeneticVariation disease BEFREE Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. 27005418 2016
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.630 GeneticVariation disease CLINVAR
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.630 CausalMutation disease CLINVAR
CUI: C4284592
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C0028754
Disease: Obesity
Obesity 		0.110 GeneticVariation disease BEFREE Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritance, and only presented with spastic paraplegia, with no signs of intellectual disability, nystagmus, or obesity. 31630374 2019
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 GeneticVariation disease BEFREE Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritance, and only presented with spastic paraplegia, with no signs of intellectual disability, nystagmus, or obesity. 31630374 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritance, and only presented with spastic paraplegia, with no signs of intellectual disability, nystagmus, or obesity. 31630374 2019
CUI: C0028754
Disease: Obesity
Obesity 		0.110 Biomarker disease HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE The aim of this study was to evaluate patient and tumour characteristics, outcome and prognostic factors in adult patients with ERMS and ARMS. 31350181 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE <i>EGFR</i> mutations in plasma cfDNA and tumor tissues by ADx-ARMS were detected. 31106124 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Immunohistochemical analysis indicated that miR-4638-5p in micelle system could effectively downregulate the expression of Kidins220 and further improve the anticancer effect by enhancing tumor cell apoptosis and suppressing tumor cell proliferation. 30452268 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Kidins220 and tumour development: Insights into a complexity of cross-talk among signalling pathways (Review). 28849114 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Of all, 16 patients both had tumor and plasma samples, the T790M mutation rates were 56.3% (9/16) by ARMS in tissue and 50.5% (8/16) by ddPCR in plasma ctDNA. 28000387 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE EGFR mutation status in plasma samples were tested with ADx-SuperARMS EGFR assay and tumor tissue samples were tested with ADx-ARMS EGFR assay. 28829813 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE SNPase-ARMS qPCR: Ultrasensitive Mutation-Based Detection of Cell-Free Tumor DNA in Melanoma Patients. 26562020 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE KRAS ARMS-qPCR assays with amplicon lengths of 120 and 85 base pairs, respectively, were compared using positive control material (PCR fragments) and plasma samples from 46 colorectal cancer patients known to harbor a tumor KRAS mutation. 25446878 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE We evaluated EGFR gene (exons 18, 19, 20 and 21) mutation status in paired plasma and tumor tissue from 94 NSCLC patients before EGFR-TKIs treatments using the Scorpion amplification refractory mutation system (Scorpion-ARMS) method. 26722512 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Results from ARMS testing showed EGFR mutations in tumor tissues from six (6) of 50 NSCLC patients of Uygur ethnic group, with a positive rate of 12.0%; four of them (4) had exon 19 deletion in EGFR, and two (2) had L858R point mutation in exon 21 of EGFR. 23803047 2013