down syndrome Gene Set

Dataset GAD 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)
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Genes

14 genes associated with the disease down syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
APOE apolipoprotein E
CBS cystathionine-beta-synthase
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
PRNP prion protein
PSEN1 presenilin 1
RFC1 replication factor C (activator 1) 1, 145kDa
SLC19A1 solute carrier family 19 (folate transporter), member 1
TCN1 transcobalamin I (vitamin B12 binding protein, R binder family)
TCN2 transcobalamin II
TNF tumor necrosis factor
TYMS thymidylate synthetase
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