Floppy Infant Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0270971
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Genes

30 genes associated with the disease Floppy Infant Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ATN1 atrophin 1
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CLCN4 chloride channel, voltage-sensitive 4
CNTNAP1 contactin associated protein 1
CYCS cytochrome c, somatic
FAN1 FANCD2/FANCI-associated nuclease 1
GBE1 glucan (1,4-alpha-), branching enzyme 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
KCNK9 potassium channel, two pore domain subfamily K, member 9
LAMA2 laminin, alpha 2
MAGEL2 melanoma antigen family L2
MECP2 methyl CpG binding protein 2
MTM1 myotubularin 1
MTMR10 myotubularin related protein 10
NALCN sodium leak channel, non selective
PREPL prolyl endopeptidase-like
PYY peptide YY
RPS19 ribosomal protein S19
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
SPTBN4 spectrin, beta, non-erythrocytic 4
STAC3 SH3 and cysteine rich domain 3
TBCK TBC1 domain containing kinase
TRPM1 transient receptor potential cation channel, subfamily M, member 1
UNC80 unc-80 homolog (C. elegans)