Benign Congenital Hypotonia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0343239
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Genes

11 genes associated with the disease Benign Congenital Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
CLCN4 chloride channel, voltage-sensitive 4
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
LAMA2 laminin, alpha 2
MAGEL2 melanoma antigen family L2
MECP2 methyl CpG binding protein 2
MTM1 myotubularin 1
PREPL prolyl endopeptidase-like
RYR1 ryanodine receptor 1 (skeletal)
SCO2 SCO2 cytochrome c oxidase assembly protein
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1