neonatal hypotonia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. (Human Phenotype Ontology, HP_0001319)
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75 genes associated with the neonatal hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTA1 actin, alpha 1, skeletal muscle
ALG11 ALG11, alpha-1,2-mannosyltransferase
AMPD1 adenosine monophosphate deaminase 1
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
ARX aristaless related homeobox
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BIN1 bridging integrator 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
CAMTA1 calmodulin binding transcription activator 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CHKB choline kinase beta
CNTN1 contactin 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CPT2 carnitine palmitoyltransferase 2
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DLAT dihydrolipoamide S-acetyltransferase
DST dystonin
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EGR2 early growth response 2
ERCC6L2 excision repair cross-complementation group 6-like 2
FGFR1 fibroblast growth factor receptor 1
FKRP fukutin related protein
FLNA filamin A, alpha
FOXG1 forkhead box G1
GLYCTK glycerate kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
ITGA7 integrin, alpha 7
LYRM4 LYR motif containing 4
MAGEL2 melanoma antigen family L2
MED12 mediator complex subunit 12
MEGF10 multiple EGF-like-domains 10
MPZ myelin protein zero
MRPS16 mitochondrial ribosomal protein S16
NEB nebulin
NSD1 nuclear receptor binding SET domain protein 1
OCRL oculocerebrorenal syndrome of Lowe
PDHX pyruvate dehydrogenase complex, component X
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX12 peroxisomal biogenesis factor 12
PEX16 peroxisomal biogenesis factor 16
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX6 peroxisomal biogenesis factor 6
PGAP1 post-GPI attachment to proteins 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
RYR1 ryanodine receptor 1 (skeletal)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEPN1 selenoprotein N, 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SOX10 SRY (sex determining region Y)-box 10
SUMF1 sulfatase modifying factor 1
TMCO1 transmembrane and coiled-coil domains 1
TPM3 tropomyosin 3
TSFM Ts translation elongation factor, mitochondrial
TUBA8 tubulin, alpha 8
UPB1 ureidopropionase, beta
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)