juvenile onset Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Onset of signs or symptoms of disease between the age of 5 and 15 years. (Human Phenotype Ontology, HP_0003621)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003621
Similar Terms
Downloads & Tools

Genes

88 genes associated with the juvenile onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ACP5 acid phosphatase 5, tartrate resistant
ADCY5 adenylate cyclase 5
AIRE autoimmune regulator
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
APTX aprataxin
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CASP10 caspase 10, apoptosis-related cysteine peptidase
CC2D1A coiled-coil and C2 domain containing 1A
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CFH complement factor H
CFI complement factor I
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CLCN7 chloride channel, voltage-sensitive 7
CLDN16 claudin 16
COL6A2 collagen, type VI, alpha 2
CTNS cystinosin, lysosomal cystine transporter
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DDHD1 DDHD domain containing 1
DNM2 dynamin 2
DOK7 docking protein 7
DRD2 dopamine receptor D2
EGR2 early growth response 2
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EMD emerin
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FAM134B family with sequence similarity 134, member B
FGF23 fibroblast growth factor 23
FXN frataxin
GALNS galactosamine (N-acetyl)-6-sulfatase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GAN gigaxonin
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GIF gastric intrinsic factor (vitamin B synthesis)
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GNAS GNAS complex locus
ISCU iron-sulfur cluster assembly enzyme
ITK IL2-inducible T-cell kinase
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KL klotho
LDHA lactate dehydrogenase A
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
MEFV Mediterranean fever
MFSD8 major facilitator superfamily domain containing 8
MMP2 matrix metallopeptidase 2
MPZ myelin protein zero
MYH9 myosin, heavy chain 9, non-muscle
NAGLU N-acetylglucosaminidase, alpha
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
NKX2-1 NK2 homeobox 1
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PANK2 pantothenate kinase 2
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PNPLA6 patatin-like phospholipase domain containing 6
PTEN phosphatase and tensin homolog
SBF2 SET binding factor 2
SCN9A sodium channel, voltage gated, type IX alpha subunit
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCE sarcoglycan, epsilon
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
TGFB1 transforming growth factor, beta 1
TNNI3 troponin I type 3 (cardiac)
TNPO3 transportin 3
TPM3 tropomyosin 3
TPP1 tripeptidyl peptidase I
TREX1 three prime repair exonuclease 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
UMOD uromodulin