Down Syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. (Human Disease Ontology, DOID_14250)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D004314
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Genes

15 genes/proteins associated with the disease Down Syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
DCR Down syndrome chromosome region 2.88009
RCAN1 regulator of calcineurin 1 2.88009
GATA1 GATA binding protein 1 (globin transcription factor 1) 2.88009
S100B S100 calcium binding protein B 2.88009
CALCA calcitonin-related polypeptide alpha 2.88009
VIP vasoactive intestinal peptide 2.88009
GSTM2 glutathione S-transferase mu 2 (muscle) 2.88009
CXCL8 chemokine (C-X-C motif) ligand 8 2.88009
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 2.88009
PRDX2 peroxiredoxin 2 2.88009
PRDX6 peroxiredoxin 6 2.88009
SLC19A1 solute carrier family 19 (folate transporter), member 1 2.88009
SOD1 superoxide dismutase 1, soluble 2.88009
NTF3 neurotrophin 3 2.88009
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 2.88009