Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7812
Gene Symbol: CSDE1
CSDE1
0.010 AlteredExpression disease BEFREE Csde1 expression is impaired in the severe congenital anemia Diamond Blackfan Anemia (DBA), and reduced expression of Csde1 in healthy erythroblasts impaired their proliferation and differentiation. 29422612 2018
Entrez Id: 146059
Gene Symbol: CDAN1
CDAN1
0.010 Biomarker disease BEFREE We report, for the first time, an unusual case of congenital anaemia with the clinical diagnosis of haemoglobin H disease complicated by morphological features at the light and electron microscopy level very similar to those of CDA-I. 12071943 2002
Entrez Id: 64061
Gene Symbol: TSPYL2
TSPYL2
0.010 Biomarker disease BEFREE We report, for the first time, an unusual case of congenital anaemia with the clinical diagnosis of haemoglobin H disease complicated by morphological features at the light and electron microscopy level very similar to those of CDA-I. 12071943 2002
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
0.010 GeneticVariation disease BEFREE To define further the natural history of treated Diamond-Blackfan anemia (DBA), a congenital anemia characterized by a paucity of erythroid precursors, we analyzed 76 patients diagnosed or followed at Children's Hospital, Boston, between 1931 and 1992. 8606629 1996
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
0.010 Biomarker disease BEFREE In addition, these findings support the hypothesis that endogenous or corticosteroid-induced increases in the production of SCF could play a physiologic role in the clinical improvement of congenital anemia. 7544739 1995
Entrez Id: 3046
Gene Symbol: HBE1
HBE1
0.010 Biomarker disease BEFREE Expression of embryonic zeta-globin and epsilon-globin chains in a 10-year-old girl with congenital anemia. 7680924 1993
Entrez Id: 3050
Gene Symbol: HBZ
HBZ
0.010 Biomarker disease BEFREE Expression of embryonic zeta-globin and epsilon-globin chains in a 10-year-old girl with congenital anemia. 7680924 1993