infantile onset Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Onset of signs or symptoms of disease between 28 days to one year of life. (Human Phenotype Ontology, HP_0003593)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003593
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Genes

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

Symbol Name
AASS aminoadipate-semialdehyde synthase
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADAR adenosine deaminase, RNA-specific
ADAT3 adenosine deaminase, tRNA-specific 3
ADGRV1 adhesion G protein-coupled receptor V1
ADK adenosine kinase
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AGK acylglycerol kinase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
AUH AU RNA binding protein/enoyl-CoA hydratase
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BLNK B-cell linker
C12ORF57 chromosome 12 open reading frame 57
CA12 carbonic anhydrase XII
CARD11 caspase recruitment domain family, member 11
CC2D2A coiled-coil and C2 domain containing 2A
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CD3D CD3d molecule, delta (CD3-TCR complex)
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD79B CD79b molecule, immunoglobulin-associated beta
CDKL5 cyclin-dependent kinase-like 5
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COQ6 coenzyme Q6 monooxygenase
CORO1A coronin, actin binding protein, 1A
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CPT2 carnitine palmitoyltransferase 2
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CXCR4 chemokine (C-X-C motif) receptor 4
CYB5A cytochrome b5 type A (microsomal)
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DARS aspartyl-tRNA synthetase
DCX doublecortin
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DLAT dihydrolipoamide S-acetyltransferase
DNAAF5 dynein, axonemal, assembly factor 5
DOCK8 dedicator of cytokinesis 8
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DYX1C1 dyslexia susceptibility 1 candidate 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EGR2 early growth response 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELANE elastase, neutrophil expressed
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FAM126A family with sequence similarity 126, member A
FERMT3 fermitin family member 3
FGD4 FYVE, RhoGEF and PH domain containing 4
FKTN fukutin
FLNA filamin A, alpha
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRMD7 FERM domain containing 7
FZD4 frizzled class receptor 4
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GFAP glial fibrillary acidic protein
GFI1B growth factor independent 1B transcription repressor
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLRA1 glycine receptor, alpha 1
GLRX5 glutaredoxin 5
GNAS GNAS complex locus
GP6 glycoprotein VI (platelet)
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble)
GRM1 glutamate receptor, metabotropic 1
HAX1 HCLS1 associated protein X-1
HCFC1 host cell factor C1
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HEXA hexosaminidase A (alpha polypeptide)
HNF1A HNF1 homeobox A
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HYDIN HYDIN, axonemal central pair apparatus protein
IFT140 intraflagellar transport 140
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
ILDR1 immunoglobulin-like domain containing receptor 1
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IRF8 interferon regulatory factor 8
ITGA7 integrin, alpha 7
JAG1 jagged 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT86 keratin 86, type II
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA3 laminin, alpha 3
LARGE like-glycosyltransferase
LMBRD1 LMBR1 domain containing 1
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
MAGEL2 melanoma antigen family L2
MCOLN1 mucolipin 1
MFN2 mitofusin 2
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MMP2 matrix metallopeptidase 2
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRPL44 mitochondrial ribosomal protein L44
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUSK muscle, skeletal, receptor tyrosine kinase
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYO5A myosin VA (heavy chain 12, myoxin)
NAGA N-acetylgalactosaminidase, alpha-
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NEB nebulin
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NGF nerve growth factor (beta polypeptide)
NLRP3 NLR family, pyrin domain containing 3
NR3C2 nuclear receptor subfamily 3, group C, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OPHN1 oligophrenin 1
PAX2 paired box 2
PCDH15 protocadherin-related 15
PCDH19 protocadherin 19
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PHKG2 phosphorylase kinase, gamma 2 (testis)
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLG plasminogen
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PNKD paroxysmal nonkinesigenic dyskinesia
POLG polymerase (DNA directed), gamma
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRKCD protein kinase C, delta
PRX periaxin
PSAP prosaposin
PSAT1 phosphoserine aminotransferase 1
PSEN1 presenilin 1
PTPRQ protein tyrosine phosphatase, receptor type, Q
PTRF polymerase I and transcript release factor
QDPR quinoid dihydropteridine reductase
RAB27A RAB27A, member RAS oncogene family
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RANBP2 RAN binding protein 2
RAPSN receptor-associated protein of the synapse
RDX radixin
RNASEH2A ribonuclease H2, subunit A
RNASET2 ribonuclease T2
RPGRIP1L RPGRIP1-like
RPS19 ribosomal protein S19
RPSA ribosomal protein SA
RYR1 ryanodine receptor 1 (skeletal)
SACS sacsin molecular chaperone
SAR1B secretion associated, Ras related GTPase 1B
SARS2 seryl-tRNA synthetase 2, mitochondrial
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEPN1 selenoprotein N, 1
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SIL1 SIL1 nucleotide exchange factor
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC25A38 solute carrier family 25, member 38
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLURP1 secreted LY6/PLAUR domain containing 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAP29 synaptosomal-associated protein, 29kDa
SOST sclerostin
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
SRD5A3 steroid 5 alpha-reductase 3
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SURF1 surfeit 1
TBC1D24 TBC1 domain family, member 24
TH tyrosine hydroxylase
TK2 thymidine kinase 2, mitochondrial
TMEM67 transmembrane protein 67
TNNT1 troponin T type 1 (skeletal, slow)
TRAC T cell receptor alpha constant
TRAPPC9 trafficking protein particle complex 9
TRIOBP TRIO and F-actin binding protein
TRPA1 transient receptor potential cation channel, subfamily A, member 1
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TSC1 tuberous sclerosis 1
TSHR thyroid stimulating hormone receptor
TTI2 TELO2 interacting protein 2
TTN titin
UPB1 ureidopropionase, beta
UVSSA UV-stimulated scaffold protein A
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WDR81 WD repeat domain 81
WNK1 WNK lysine deficient protein kinase 1