childhood onset Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Onset of disease at the age of between 1 and 5 years. (Human Phenotype Ontology, HP_0011463)
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41 genes associated with the childhood onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ADGRV1 adhesion G protein-coupled receptor V1
ALAS2 5'-aminolevulinate synthase 2
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMN amnion associated transmembrane protein
CAV3 caveolin 3
CLCN1 chloride channel, voltage-sensitive 1
CUBN cubilin (intrinsic factor-cobalamin receptor)
DIAPH1 diaphanous-related formin 1
DMD dystrophin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EMD emerin
F2 coagulation factor II (thrombin)
FECH ferrochelatase
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GIPC3 GIPC PDZ domain containing family, member 3
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NLGN4X neuroligin 4, X-linked
OCRL oculocerebrorenal syndrome of Lowe
PLCE1 phospholipase C, epsilon 1
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PMP22 peripheral myelin protein 22
PNKD paroxysmal nonkinesigenic dyskinesia
PRNP prion protein
PRPS1 phosphoribosyl pyrophosphate synthetase 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SH3BP2 SH3-domain binding protein 2
SMPX small muscle protein, X-linked
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TACSTD2 tumor-associated calcium signal transducer 2
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TMPRSS3 transmembrane protease, serine 3
TTN titin
WT1 Wilms tumor 1
XPC xeroderma pigmentosum, complementation group C