Table 9.
Neurological functions implicated by QTN-associated genes in dNA.MZ.
| Functions Annotation | p-value * | Genes |
|---|---|---|
| abnormal morphology of pyramidal neurons | 5.59 × 10−5 | CHL1, CHRNA7, KALRN |
| GABA-mediated receptor currents | 4.19 × 10−4 | CHRNA7, NRXN1 |
| abnormal morphology of cerebral cortex | 1.12 × 10−3 | CHL1, CHRNA7, KALRN, NPAS3 |
| organization of mossy fibers | 2.19 × 10−3 | CHL1 |
| cell-cell adhesion of astrocytes | 2.19 × 10−3 | CADM1 |
| developmental process of synapse | 2.35 × 10−3 | CADM1, CHRNA7, KALRN, NRXN1 |
| formation of tip of neurite-like extensions | 4.37 × 10−3 | KALRN |
| hyperexcitation of hippocampal neurons; short-term potentiation of hippocampus; nicotine-mediated receptor current | 4.37 × 10−3 | CHRNA7 |
| abnormal morphology of enlarged fourth cerebral ventricle | 6.54 × 10−3 | NPAS3 |
| miniature excitatory postsynaptic currents | 7.15 × 10−3 | KALRN, NRXN1 |
| abnormal morphology of lateral cerebral ventricle | 7.64 × 10−3 | CHL1, NPAS3 |
| differentiation of satellite cells | 8.71 × 10−3 | PAX7 |
| abnormal morphology of cingulate gyrus | 8.71 × 10−3 | NPAS3 |
| abnormal morphology of GABAergic neurons | 8.71 × 10−3 | CHRNA7 |
| migration of pyramidal neurons | 1.09 × 10−2 | CHL1 |
| pervasive developmental disorder | 1.13 × 10−2 | BCAS3, PREP, SLC1A7 |
| excitatory postsynaptic current | 1.26 × 10−2 | KALRN, NRXN1 |
| morphology of cortical neurons | 1.30 × 10−2 | KALRN |
| formation of pyramidal neurons | 1.30 × 10−2 | CHL1 |
| maturatin of neurons | 1.46 × 10−2 | KALRN, NRXN1 |
| branching of axons | 1.49 × 10−2 | KALRN, STK11 |
| prepulse inhibition | 1.56 × 10−2 | KALRN, NRXN1 |
| abnormal morphology of enlarged third cerebral ventricle | 1.74 × 10−2 | NPAS3 |
| paired-pulse inhibition | 1.74 × 10−2 | NRXN1 |
| coordination | 1.79 × 10−2 | CHRNA7, KALRN, NPAS3 |
| abnormal morphology of cerebral aqueduct | 1.95 × 10−2 | NPAS3 |
| morphogenesis of dendritic spines | 2.16 × 10−2 | KALRN |
| retraction of dendrites | 2.38 × 10−2 | KALRN |
| activation of dopaminergic neurons | 2.59 × 10−2 | CHRNA7 |
| maturation of dendritic spines | 2.59 × 10−2 | KALRN |
| abnormal morphology of olfactory receptor neurons | 2.81 × 10−2 | CHL1 |
| length of axons | 2.81 × 10−2 | KALRN |
| spatial memory | 2.88 × 10−2 | CHRNA7, KALRN, NPAS3 |
| sleep disorders | 3.06 × 10−2 | CHRNA7, PDE4B |
| neurotransmission | 3.20 × 10−2 | ANKS1B, CHRNA7, KALRN, NRXN1 |
| development of neurons | 3.44 × 10−2 | CADM1, CHL1, CHRNA7, KALRN, NRXN1, STK11 |
* Fisher exact p-value which indicates the probability that the list of SNP-associated genes is not enriched for annotated function, using genes in IPA’s Knowledgebase as the reference set of genes.