Table 3.

Enrichment analysis. The table shows the results obtained using ToppGene software.

					ToppGene
Category	GO Term	Description	Genes	No. of Selected Genes	No. of Hits in Genome	p	p Adjusted
Biological processes a	GO:0051028	mRNA transport	AGFG1,HSF1,MYO1C,SMG1,MAGOHB	5	157	6.2 × 10−6	0.011
Molecular function	GO:0003774	motor activity	MYO1C,KIF1A,DNAH8,KIF26B,MYO5C	5	134	3.44 × 10−6	9.50 × 10−4
Molecular function	GO:0003713	transcription coactivator activity b	MMS19,ATN1,PPRC1,NOTCH1,RNF20	5	285	1.29 × 10−4	3.57 × 10−2
Disease	C0524851	Neurodegenerative Disorders	AGFG1,PPP2R2B,ABCA1,GRIN2B,ATN1,TDP1,HSF1,KIF1A,DNAH8,LDLR,NOTCH1	11	1480	1.01 × 10−5	0.0156
Disease	C0027765	nervous system disorder c	AGFG1,SMG1,PPP2R2B,ABCA1,GRIN2B,TDP1,KIF1A,NOTCH1,RNF20	9	942	1.12 × 10−5	0.0173
Transcription factors		RFX1_01 d	SMG1,PPP2R2B,HSF1,MYO1C	4	194	7.82 × 10−5	0.0375

^a The same five genes also resulted significantly enriched in the mRNA transport pathway according to Metascape software: No. of hits in genome = 152; p = 1.05 × 10⁻⁶; p adjusted = 0.024. ^b Two genes (MMS19 and PPRC1) are located in the same linkage region. Enrichment analysis was re-run excluding one of the genes. The term still shows a nominal enrichment (p = 0.00105, but it is no longer significant after applying Bonferroni correction. ^c Two genes (ABCA1 and RNF20) are located in the same linkage region. Enrichment analysis was re-run excluding one of the genes. The term still shows a nominal enrichment (p = 3.03 × 10⁻⁴), but it is no longer significant after applying Bonferroni correction. ^d Two genes (PPP2R2B and YIPF5) are located in the same linkage region. Enrichment analysis was re-run excluding one of the genes, but it is not significant. No. of hits in genome: number of genes in genome linked to the specific GO Term. For p adjusted, Bonferroni correction was performed, multiplying for the number of annotations in the category.