Human | DAOA | 267012 | D-amino acid oxidase activator | Polymorphisms in the 13q33.2 gene G72/G30 are associated with childhood-onset schizophrenia and psychosis not otherwise specified |
Human | AMN | 81693 | amnion associated transmembrane protein | Early childhood onset (before age 5 years) |
Human | SPG11 | 80208 | spastic paraplegia 11 (autosomal recessive) | Childhood onset has been reported |
Human | WNK1 | 65125 | WNK lysine deficient protein kinase 1 | HSN2 mutations are associated with an early childhood onset of a predominantly sensory neuropathy |
Human | TMPRSS3 | 64699 | transmembrane protease, serine 3 | |
Human | PTPN22 | 26191 | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | There is an association of the PTPN22 1858T allele with sporadic childhood-onset systemic lupus erythematosus in the Mexican population |
Human | FBXO7 | 25793 | F-box protein 7 | Childhood onset has been reported in 1 family |
Human | MERTK | 10461 | c-mer proto-oncogene tyrosine kinase | The present study reports the identification of R844C, the first putative pathogenic MERTK missense mutation that results in severe retinal degeneration with childhood onset |
Human | PLA2G6 | 8398 | phospholipase A2, group VI (cytosolic, calcium-independent) | Childhood onset (average 6 years) |
Human | FGF23 | 8074 | fibroblast growth factor 23 | Lower limb deformities (childhood-onset) Rarely, patients with childhood-onset may lose the renal phosphate-wasting defect Rickets (childhood-onset) Growth retardation (childhood-onset) Short stature (in patients with childhood-onset) |
Human | CUBN | 8029 | cubilin (intrinsic factor-cobalamin receptor) | Early childhood onset (before age 5 years) |
Human | UCP2 | 7351 | uncoupling protein 2 (mitochondrial, proton carrier) | No evidence for involvement of the promoter polymorphism -866 G/A of the UCP2 gene in childhood-onset obesity in humans |
Human | TTN | 7273 | titin | |
Human | TPH1 | 7166 | tryptophan hydroxylase 1 | There was a nearly doubling of the risk for childhood-onset schizophrenia associated with the AA genotype compared to other genotype groups in a Japanese sample |
Human | SLC6A4 | 6532 | solute carrier family 6 (neurotransmitter transporter), member 4 | Examination of genetic variants at the SLC6A4 locus indicated no association between the selected polymorphisms and childhood-onset mood disorder |
Human | RPE65 | 6121 | retinal pigment epithelium-specific protein 65kDa | multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa and Leber's congenital amaurosis patients |
Human | PROP1 | 5626 | PROP paired-like homeobox 1 | PROP1 gene mutations can be detected in a high proportion of Hungarian patients with non-acquired childhood-onset growth hormone deficiency combined with at least one other anterior pituitary hormone defect |
Human | PMP22 | 5376 | peripheral myelin protein 22 | |
Human | PDCD1 | 5133 | programmed cell death 1 | regulatory single nucleotide polymorphism PD1.3G/A was shown to be involved in susceptibility to childhood-onset systemic lupus erythematosus but not lupus nephritis |
Human | NTRK3 | 4916 | neurotrophic tyrosine kinase, receptor, type 3 | childhood-onset mood disorders are linked to NTRK3 gene on chromosome 15q25.3-q26.2 |
Human | NGFR | 4804 | nerve growth factor receptor | results do not support an association of the p75(NTR) S205L polymorphism with risk for childhood-onset mood disorder(COMD)or suicide attempt in COMD |
Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | No evidence of association between a functional polymorphism in the MTHFR gene and childhood-onset mood disorders |
Human | MFGE8 | 4240 | milk fat globule-EGF factor 8 protein | Some childhood-onset and adult SLE patients carried a significant level of MFG-E8 in their blood samples |
Human | HTR2A | 3356 | 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled | Examination of genetic variants at the HTR2A locus indicated no association between the selected polymorphisms and childhood-onset mood disorder |
Human | HTR1B | 3351 | 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled | Examination of genetic variants at the HTR1B locus indicated no association between the selected polymorphisms and childhood-onset mood disorder |