Hypotonia-Cystinuria Syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. (Orphanet Rare Disease Ontology, Orphanet_163690)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C564710
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Genes

3 genes/proteins associated with the disease Hypotonia-Cystinuria Syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
PREPL prolyl endopeptidase-like 2.88009
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 2.88009
DEL2P21 Hypotonia-cystinuria syndrome 2.88009