Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 AlteredExpression disease BEFREE The analyses stress the importance of using a software which has the possibility to separate the level of a biochemical risk by correlating PAPP-A and free beta HCG and, by adding the NT marker, calculate the level of a final risk of Down syndrome. 30581343 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 Biomarker disease LHGDN Human placental development is impaired by abnormal human chorionic gonadotropin signaling in trisomy 21 pregnancies. 17690166 2007
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 GeneticVariation disease BEFREE We present the case of a pregnant woman with low free beta-HCG in maternal serum Down syndrome screening that led to prenatal diagnosis of a fetus with 46,XY,der(4)t(4;11)(p14; q25). 16231301 2005
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 AlteredExpression disease BEFREE We concluded that in trisomy 21 the high tissue HCG concentration and expression of LH/HCG receptor in the trophoblast may reflect the relative immaturity of the trophoblastic tissue whereas in trisomy 18, the very low concentration of endogenous HCG, associated with an over-expression of LH/HCG receptor in the trophoblast, is probably secondary to the poor differentiation of the cytotrophoblast. 10611254 2000
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 AlteredExpression disease BEFREE The increase in hCG promoter activity in DS-derived fibroblasts suggests a possible role for a transcriptional factor located on the human chromosome 21 by either directly or indirectly interacting with the beta5-promoter. 10085509 1999
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 Biomarker disease BEFREE Significant correlations were found for AFP and UE3 in the controls and for intHCG and F beta HCG in both the control and the Down's syndrome pregnancies. 8284287 1993
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 AlteredExpression disease BEFREE The addition of two new markers in maternal serum, estriol and HCG, to those already known, namely the level of maternal serum alfa-fetoprotein and maternal age, considerably improves the expected results of a screening strategy for Down syndrome. 1689225 1990