DCR, Down syndrome chromosome region, 1637

N. diseases: 32; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.360 Biomarker disease BEFREE Here we investigated the molecular mechanisms underlying impaired neuronal proliferation in DS and, more specifically, a regulatory role for dual-specificity tyrosine-(Y) phosphorylation-regulated kinase 1A (Dyrk1A), a DSCR gene product, in embryonic neuronal cell proliferation. 20696760 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.360 Biomarker disease BEFREE The Down syndrome chromosome region-1 (DCR1) on subband q22.2 of chromosome 21 is thought to contain genes contributing to many features of the trisomy 21 phenotype, including dysmorphic features, hypotonia, and psychomotor delay. 9299242 1997
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.360 GeneticVariation disease BEFREE The deletion does not involve the "Down syndrome chromosome" region, the region of chromosome 21 which in trisomy causes most of the manifestations of Down syndrome. 8862630 1996
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.360 Biomarker disease BEFREE The Down syndrome chromosome region (DCR) on chromosome 21 has been shown to contain a gene(s) important in the pathogenesis of Down syndrome. 8188288 1994
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.360 GeneticVariation disease BEFREE Thus, the complex phenotype that constitutes Down syndrome may in large part simply result from the overdosage of only one or a few genes within the DCR and/or region D21S55-MX1. 8055322 1993
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.360 Biomarker disease BEFREE The triplication of a region of chromosome 21 around D21S55 in 21q22.2-22.3 has been involved in the main features of Down syndrome including mental retardation (Down syndrome chromosome region: DCR). 8069651 1993
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.360 Biomarker disease CTD_human
CUI: C0432416
Disease: Down Syndrome, Partial Trisomy 21
Down Syndrome, Partial Trisomy 21 		0.300 Biomarker disease CTD_human
CUI: C0432417
Disease: Trisomy 21, Meiotic Nondisjunction
Trisomy 21, Meiotic Nondisjunction 		0.300 Biomarker disease CTD_human
CUI: C0751081
Disease: Trisomy 21, Mitotic Nondisjunction
Trisomy 21, Mitotic Nondisjunction 		0.300 Biomarker disease CTD_human
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.050 Biomarker disease BEFREE Here we investigated the molecular mechanisms underlying impaired neuronal proliferation in DS and, more specifically, a regulatory role for dual-specificity tyrosine-(Y) phosphorylation-regulated kinase 1A (Dyrk1A), a DSCR gene product, in embryonic neuronal cell proliferation. 20696760 2010
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.050 GeneticVariation disease BEFREE The deletion does not involve the "Down syndrome chromosome" region, the region of chromosome 21 which in trisomy causes most of the manifestations of Down syndrome. 8862630 1996
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.050 Biomarker disease BEFREE The Down syndrome chromosome region (DCR) on chromosome 21 has been shown to contain a gene(s) important in the pathogenesis of Down syndrome. 8188288 1994
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.050 GeneticVariation disease BEFREE Thus, the complex phenotype that constitutes Down syndrome may in large part simply result from the overdosage of only one or a few genes within the DCR and/or region D21S55-MX1. 8055322 1993
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.050 Biomarker disease BEFREE The triplication of a region of chromosome 21 around D21S55 in 21q22.2-22.3 has been involved in the main features of Down syndrome including mental retardation (Down syndrome chromosome region: DCR). 8069651 1993
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 Biomarker disease BEFREE The results suggested that gefitinib and erlotinib are effective for advanced NSCLC with comparable PFS (95% confidence intervals [CI]: 0.98-1.11, P = .15), OS (95% CI: 0.93-1.19, P = .45), ORR (95% CI: 0.99-1.16, P = .07), and DCR (95% CI: 0.92-1.03, P = .35). 29668619 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 Biomarker disease BEFREE In patients with advanced NSCLC, erlotinib-doublets target therapy (specially combination with anti-angiogenesis and anti-MET targeted agents) was associated with a statistically significantly longer PFS, greater ORR and DCR, but the combination did not improve OS and 1-year SR compared with erlotinib alone. 29069867 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 Biomarker disease BEFREE Similarly, compared to EGFR TKIs monotherapy, the intercalated combination of chemotherapy and EGFR TKIs seemed superior to EGFR TKIs alone in terms of PFS, ORR and DCR (PFS: HR = 0.75, 95% CI: 0.62-0.91, ORR: RR = 1.49, 95% CI: 1.12-2.00 and DCR: RR = 1.33, 95% CI: 1.15-1.54) in advanced NSCLC therapy. 26481697 2015
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease BEFREE The D21S55 region or Down's Syndrome Chromosome Region 1 (DCR1) (1/20 of the long arm), on 21q22.2-21q22.3 proximal, is involved in four cardinal features of the disease: mental retardation, growth retardation, muscular hypotonia and joint hyperlaxity, and in eight of the 18 more common morphological anomalies of the face, hands and feet. 7999986 1994
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 GeneticVariation group BEFREE The D21S55 region or Down's Syndrome Chromosome Region 1 (DCR1) (1/20 of the long arm), on 21q22.2-21q22.3 proximal, is involved in four cardinal features of the disease: mental retardation, growth retardation, muscular hypotonia and joint hyperlaxity, and in eight of the 18 more common morphological anomalies of the face, hands and feet. 7999986 1994
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 Biomarker disease BEFREE Nineteen of these features could be assigned to just 2 regions: short stature, joint hyperlaxity, hypotonia, major contribution to mental retardation and 9 anomalies of the face, hand and foot to the region D21S55, or Down syndrome chromosome region (DCR), located on q22.2 or very proximal q22.3, and spanning 0.4-3 Mb; 6 facial and dermatoglyphic anomalies to the region D21S55-MX1, including the DCR and spanning a maximum of 6 Mb on q22.2 and part of q22.3. 8055322 1993
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 Biomarker disease BEFREE The triplication of a region of chromosome 21 around D21S55 in 21q22.2-22.3 has been involved in the main features of Down syndrome including mental retardation (Down syndrome chromosome region: DCR). 8069651 1993
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 Biomarker group BEFREE Nineteen of these features could be assigned to just 2 regions: short stature, joint hyperlaxity, hypotonia, major contribution to mental retardation and 9 anomalies of the face, hand and foot to the region D21S55, or Down syndrome chromosome region (DCR), located on q22.2 or very proximal q22.3, and spanning 0.4-3 Mb; 6 facial and dermatoglyphic anomalies to the region D21S55-MX1, including the DCR and spanning a maximum of 6 Mb on q22.2 and part of q22.3. 8055322 1993
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 Biomarker group BEFREE The triplication of a region of chromosome 21 around D21S55 in 21q22.2-22.3 has been involved in the main features of Down syndrome including mental retardation (Down syndrome chromosome region: DCR). 8069651 1993
CUI: C0010930
Disease: Dacryocystitis
Dacryocystitis 		0.020 Biomarker disease BEFREE Shifting to very early endoscopic DCR in acute suppurative dacryocystitis. 31822856 2019