Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1003
Gene Symbol: CDH5
CDH5 		0.010 Biomarker disease BEFREE Trisomy 21 embryos showed significant up-regulation of markers of cell differentiation (Cadherin-5 (CDH5) and Laminin subunit gamma-1 (LAMC1)), whereas monosomy 21 blastocysts showed higher expression of genes reported to be expressed in undifferentiated cells (Gamma-Aminobutyric Acid Type-A Receptor Beta3 Subunit (GABRB3) and GDF3). 28369516 2017
Entrez Id: 9573
Gene Symbol: GDF3
GDF3 		0.010 AlteredExpression disease BEFREE Trisomy 21 embryos showed significant up-regulation of markers of cell differentiation (Cadherin-5 (CDH5) and Laminin subunit gamma-1 (LAMC1)), whereas monosomy 21 blastocysts showed higher expression of genes reported to be expressed in undifferentiated cells (Gamma-Aminobutyric Acid Type-A Receptor Beta3 Subunit (GABRB3) and GDF3). 28369516 2017
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.010 AlteredExpression disease BEFREE Trisomy 21 embryos showed significant up-regulation of markers of cell differentiation (Cadherin-5 (CDH5) and Laminin subunit gamma-1 (LAMC1)), whereas monosomy 21 blastocysts showed higher expression of genes reported to be expressed in undifferentiated cells (Gamma-Aminobutyric Acid Type-A Receptor Beta3 Subunit (GABRB3) and GDF3). 28369516 2017
Entrez Id: 3915
Gene Symbol: LAMC1
LAMC1 		0.010 AlteredExpression disease BEFREE Trisomy 21 embryos showed significant up-regulation of markers of cell differentiation (Cadherin-5 (CDH5) and Laminin subunit gamma-1 (LAMC1)), whereas monosomy 21 blastocysts showed higher expression of genes reported to be expressed in undifferentiated cells (Gamma-Aminobutyric Acid Type-A Receptor Beta3 Subunit (GABRB3) and GDF3). 28369516 2017
Entrez Id: 6782
Gene Symbol: HSPA13
HSPA13 		0.010 GeneticVariation disease BEFREE Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region. 25803843 2015
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1 		0.010 Biomarker disease BEFREE Deletion of the App-Runx1 region in mice models human partial monosomy 21. 26035870 2015
Entrez Id: 6453
Gene Symbol: ITSN1
ITSN1 		0.010 Biomarker disease BEFREE Microcephaly and brain structural abnormalities including polymicrogyria and agenesis/hypoplasia of the corpus callosum may also result from haploinsufficiency of ITSN1, highlighting its clinical significance for the neurological features of patients with monosomy 21. 24458657 2014
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.010 Biomarker disease BEFREE Given its localization in both the Down syndrome critical region and in the minimal region for partial monosomy 21, the gene has been studied intensively in animals and in humans, and DYRK1A has been proposed to be involved in the neurodevelopmental alterations associated with these syndromes. 18405873 2008
Entrez Id: 571
Gene Symbol: BACH1
BACH1 		0.010 GeneticVariation disease BEFREE The contribution of the BACH1 gene to the pathophysiology of trisomy or monosomy 21 is unknown. 9544839 1998
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		0.010 Biomarker disease BEFREE Deletion of genes from the chromosome 21 region between APP and SOD1 is a potential cause of some of the major phenotypic features of monosomy 21 patients. 9226369 1997
Entrez Id: 351
Gene Symbol: APP
APP 		0.010 GeneticVariation disease BEFREE Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. 7611297 1995
Entrez Id: 6285
Gene Symbol: S100B
S100B 		0.010 Biomarker disease BEFREE The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. 1463008 1992
Entrez Id: 5211
Gene Symbol: PFKL
PFKL 		0.010 Biomarker disease BEFREE The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. 1463008 1992