CSE1L, chromosome segregation 1 like, 1434

N. diseases: 163; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.360 GeneticVariation disease UNIPROT
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.060 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.010 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS, childhood apraxia of speech; CD, childhood dysarthria; CND, complex neurodevelopmental disorders; DI, dysarthria index; DSI, dysarthria subtype indices; MSD, motor speech disorder; No MSD, no motor speech disorder; NSA, normal(ized) speech acquisition; PEPPER, programs to examine phonetic and phonologic evaluation records; PM, pause marker; PMI, pause marker index; PSD, persistent speech delay; PSE, persistent speech errors; SD, speech delay; SDCS, speech disorders classification system; SDCSS, speech disorders classification system summary; SE, speech errors; SMD, speech motor delay. 30987467 2019
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.060 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.010 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.010 Biomarker group BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		0.010 Biomarker disease BEFREE <sup>99</sup>Tc<sup>m</sup>-octreotide scintigraphy and serum levels of calsequestrin, uveal auto-antigen with coiled-coil domains and ankyrin repeats (UACA) and G2s antibodies were detected before and after treatment.Results<sup>99</sup>Tc<sup>m</sup>-octreotide scintigraphy was positive in active TAO patients (97%) with elevated uptake ratio (UR) (P<0.05), and showed a significant correlation with CAS (r=0.816, P<0.01). 28387769 2017
CUI: C0041316
Disease: Lymph Node Tuberculosis
Lymph Node Tuberculosis 		0.010 Biomarker disease BEFREE 'Ancestral' lineages M.bovis (OR-5.22; 95% CI-2.23-8.22, p- < 0.001) and Delhi/CAS (OR-0.57; 95% CI-0.411-0.734, p- < 0.001) were directly associated with lymph node tuberculosis and gastrointestinal tuberculosis (M. bovis-OR-0.33; 95% CI-0.085-0.567, p-0.001 and Delhi/CAS-OR-1.87; 95% CI-1.22-2.53, p- < 0.001) respectively. 30587190 2018
CUI: C0041312
Disease: Tuberculosis, Gastrointestinal
Tuberculosis, Gastrointestinal 		0.010 Biomarker disease BEFREE 'Ancestral' lineages M.bovis (OR-5.22; 95% CI-2.23-8.22, p- < 0.001) and Delhi/CAS (OR-0.57; 95% CI-0.411-0.734, p- < 0.001) were directly associated with lymph node tuberculosis and gastrointestinal tuberculosis (M. bovis-OR-0.33; 95% CI-0.085-0.567, p-0.001 and Delhi/CAS-OR-1.87; 95% CI-1.22-2.53, p- < 0.001) respectively. 30587190 2018
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.020 Biomarker disease BEFREE 34 lightly fibromatous, 23 heavily fibromatous, 5 lipomatous and 10 naevus cell naevi were stained with Feulgen kit in order to evaluate their ploidy status with CAS 200 image analyzer. 10368674 1999
CUI: C0027960
Disease: Nevus
Nevus 		0.020 Biomarker disease BEFREE 34 lightly fibromatous, 23 heavily fibromatous, 5 lipomatous and 10 naevus cell naevi were stained with Feulgen kit in order to evaluate their ploidy status with CAS 200 image analyzer. 10368674 1999
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		0.020 Biomarker disease BEFREE 34 lightly fibromatous, 23 heavily fibromatous, 5 lipomatous and 10 naevus cell naevi were stained with Feulgen kit in order to evaluate their ploidy status with CAS 200 image analyzer. 10368674 1999
CUI: C0011334
Disease: Dental caries
Dental caries 		0.010 Biomarker disease BEFREE Caries-associated bacteria showed the highest relative activity in caries lesions (e.g. lactobacilli CAC: 177.5 ± 46.0%) and lower activities on sound surfaces (e.g. lactobacilli CAS: 96.3 ± 31.5%), whereas asaccharolytic fusobacteria were most active on sound surfaces and less active in caries lesions (CFS: 275.7 ± 171.1%; CAS: 205.8 ± 114.3%; CAC: 51.1 ± 19.0%). 27595541 2016
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		0.010 Biomarker disease BEFREE Caries-associated bacteria showed the highest relative activity in caries lesions (e.g. lactobacilli CAC: 177.5 ± 46.0%) and lower activities on sound surfaces (e.g. lactobacilli CAS: 96.3 ± 31.5%), whereas asaccharolytic fusobacteria were most active on sound surfaces and less active in caries lesions (CFS: 275.7 ± 171.1%; CAS: 205.8 ± 114.3%; CAC: 51.1 ± 19.0%). 27595541 2016
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis 		0.010 GeneticVariation disease BEFREE Coronary artery stenosis (CAS >50% narrowing of at least one coronary artery) was detected in 223 patients (40.5%). 28766048 2018
CUI: C0030193
Disease: Pain
Pain 		0.020 Biomarker phenotype BEFREE Pain intensity was measured by the Colored Analogue Scale (CAS Intensity) and the Faces Pain Scale (FPS); pain affect was also measured by CAS Affect and Number of Words Chosen-Affective (NWC-A). 29849839 2018
CUI: C0015672
Disease: Fatigue
Fatigue 		0.010 Biomarker phenotype BEFREE Fatigue gradually decreased after a peak at the 1st CTx cycle in Exp 2, whereas Exp 1 experienced increasing fatigue until the 3rd CTx cycle. 31129760 2020
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.010 Biomarker disease BEFREE CAS protein reactivity was present in 100%, Rb in 54%, cyclin D1 in 47%, and p53 in 49%. 12472286 2002
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.060 Biomarker disease BEFREE CSE1/CAS overexpression inhibits the tumorigenicity of HT-29 colon cancer cells. 15354419 2004