Enriched Pathway

The pathway-enriched analysis was done by KOBAS2.0 using 434 confident genes, including the ranked non-syndromic genes (Score>=8) and level 3/4 syndromic genes.(Cutoff of enriched pathway: P <= 1.00e-2)

Statistic method: hypergeometric test

FDR correction method: Benjamini and Hochberg (1995)

KEGG PATHWAY

KEGG PATHWAY

Term	ID	Sample Number	Backgroud Number	P Value	Corrected P Value
Neuroactive ligand-receptor interaction	hsa04080	36 / 223	273 / 6050	1.03E-11	1.65E-9
2903 \| 1141 \| 154 \| 2904 \| 3360 \| 2925 \| 552 \| 135 \| 116444 \| 1814 \| 1815 \| 2560 \| 2562 \| 2565 \| 2567 \| 8001 \| 7434 \| 2918 \| 2743 \| 2742 \| 186 \| 4889 \| 1139 \| 1133 \| 1137 \| 4886 \| 3356 \| 5021 \| 4543 \| 3358 \| 2555 \| 2898 \| 2557 \| 2558 \| 2891 \| 2892 \|
Calcium signaling pathway	hsa04020	24 / 223	177 / 6050	2.25E-8	1.97E-6
2903 \| 154 \| 2925 \| 552 \| 135 \| 491 \| 6262 \| 952 \| 3360 \| 5021 \| 4842 \| 4843 \| 775 \| 1139 \| 1133 \| 778 \| 3356 \| 3358 \| 5579 \| 5613 \| 8912 \| 8913 \| 8911 \| 2066 \|
Long-term potentiation	hsa04720	14 / 223	70 / 6050	1.76E-7	9.98E-6
2903 \| 775 \| 5595 \| 5594 \| 5579 \| 2904 \| 5613 \| 2891 \| 673 \| 5604 \| 6197 \| 3265 \| 3845 \| 1387 \|
Neurotrophin signaling pathway	hsa04722	16 / 223	127 / 6050	1.45E-5	5.20E-4
4909 \| 4908 \| 5595 \| 5594 \| 596 \| 7531 \| 673 \| 5604 \| 6197 \| 3845 \| 5781 \| 627 \| 3654 \| 3265 \| 7529 \| 4790 \|
Glutamatergic synapse	hsa04724	15 / 223	126 / 6050	5.32E-5	1.32E-3
2903 \| 775 \| 5595 \| 2898 \| 5579 \| 2904 \| 2918 \| 5613 \| 2891 \| 2892 \| 22941 \| 85358 \| 116444 \| 1742 \| 5594 \|
Cholinergic synapse	hsa04725	14 / 223	112 / 6050	5.51E-5	1.32E-3
775 \| 1139 \| 1141 \| 5595 \| 5594 \| 5579 \| 596 \| 1133 \| 5613 \| 1137 \| 778 \| 5604 \| 3265 \| 3845 \|
Endometrial cancer	hsa05213	9 / 223	52 / 6050	9.86E-5	1.99E-3
5728 \| 5595 \| 5594 \| 673 \| 5604 \| 29119 \| 3845 \| 1496 \| 3265 \|
MAPK signaling pathway	hsa04010	23 / 223	268 / 6050	1.19E-4	2.21E-3
627 \| 5604 \| 4763 \| 9344 \| 4909 \| 4908 \| 836 \| 8911 \| 115727 \| 775 \| 778 \| 673 \| 3265 \| 4790 \| 5595 \| 5594 \| 5579 \| 5613 \| 4208 \| 8912 \| 8913 \| 6197 \| 3845 \|
Pathways in cancer	hsa05200	26 / 223	327 / 6050	1.50E-4	2.55E-3
3082 \| 22798 \| 596 \| 5604 \| 5743 \| 6608 \| 1630 \| 5728 \| 836 \| 4790 \| 29119 \| 7472 \| 4843 \| 10319 \| 3912 \| 2950 \| 673 \| 3265 \| 1496 \| 4233 \| 5595 \| 5594 \| 5579 \| 861 \| 3845 \| 1387 \|
Type I diabetes mellitus	hsa04940	8 / 223	45 / 6050	1.99E-4	3.08E-3
3105 \| 3458 \| 2572 \| 2571 \| 5551 \| 3123 \| 3002 \| 5799 \|
Long-term depression	hsa04730	10 / 223	70 / 6050	2.15E-4	3.15E-3
5595 \| 5594 \| 5579 \| 2891 \| 2892 \| 5604 \| 3265 \| 3845 \| 673 \| 4842 \|
Renal cell carcinoma	hsa05211	10 / 223	70 / 6050	2.15E-4	3.15E-3
5595 \| 5594 \| 673 \| 5604 \| 3845 \| 5781 \| 3265 \| 1387 \| 4233 \| 3082 \|
Leishmaniasis	hsa05140	10 / 223	73 / 6050	3.06E-4	4.00E-3
4790 \| 5595 \| 5594 \| 5579 \| 3123 \| 3458 \| 5743 \| 3654 \| 3676 \| 4843 \|
Prostate cancer	hsa05215	11 / 223	89 / 6050	3.86E-4	4.80E-3
5728 \| 5595 \| 5594 \| 596 \| 2950 \| 673 \| 5604 \| 3265 \| 3845 \| 1387 \| 4790 \|
Cell adhesion molecules (CAMs)	hsa04514	14 / 223	135 / 6050	4.12E-4	4.89E-3
9379 \| 9378 \| 4684 \| 3105 \| 4897 \| 54413 \| 7122 \| 57502 \| 22871 \| 3123 \| 23705 \| 3676 \| 3897 \| 26047 \|
Natural killer cell mediated cytotoxicity	hsa04650	14 / 223	137 / 6050	4.79E-4	5.51E-3
836 \| 5595 \| 5594 \| 5579 \| 5551 \| 3105 \| 3937 \| 673 \| 5604 \| 3265 \| 5781 \| 3002 \| 3845 \| 3458 \|
Thyroid cancer	hsa05216	6 / 223	29 / 6050	5.46E-4	6.06E-3
5595 \| 5594 \| 673 \| 5604 \| 3845 \| 3265 \|
Non-small cell lung cancer	hsa05223	8 / 223	54 / 6050	7.22E-4	7.50E-3
5595 \| 5594 \| 5579 \| 2272 \| 673 \| 5604 \| 3845 \| 3265 \|

Reactome

Term	ID	Sample Number	Backgroud Number	P Value	Corrected P Value
Synaptic Transmission	REACT:13685	32 / 187	265 / 5183	7.50E-10	9.06E-8
2903 \| 1141 \| 6853 \| 2904 \| 3751 \| 2891 \| 3778 \| 23426 \| 2892 \| 7915 \| 4128 \| 2560 \| 2562 \| 2567 \| 3750 \| 1139 \| 1312 \| 6804 \| 1137 \| 673 \| 3265 \| 6616 \| 2555 \| 2898 \| 5579 \| 2557 \| 2558 \| 2572 \| 2571 \| 6197 \| 1742 \| 5594 \|
Axon guidance	REACT:18266	30 / 187	265 / 5183	1.29E-8	1.24E-6
4897 \| 5604 \| 9037 \| 4629 \| 1630 \| 3690 \| 91584 \| 6326 \| 8911 \| 6323 \| 5781 \| 3897 \| 775 \| 55558 \| 3912 \| 778 \| 3265 \| 8128 \| 5595 \| 4233 \| 10507 \| 4684 \| 1641 \| 5594 \| 8912 \| 8913 \| 6197 \| 3845 \| 7529 \| 1742 \|
Signalling by NGF	REACT:11061	20 / 187	220 / 5183	1.09E-4	2.06E-3
5728 \| 7529 \| 5595 \| 5594 \| 5604 \| 836 \| 7531 \| 7249 \| 4168 \| 3265 \| 4974 \| 4208 \| 6197 \| 3845 \| 135 \| 3654 \| 2245 \| 673 \| 4790 \| 9459 \|
Signaling by EGFR	REACT:9417	8 / 187	51 / 5183	4.15E-4	4.89E-3
5595 \| 5594 \| 5604 \| 3265 \| 5781 \| 30011 \| 3845 \| 7529 \|

BioCyc

Term	ID	Sample Number	Backgroud Number	P Value	Corrected P Value
MAP kinase cascade	PWY66-14	4 / 38	6 / 934	3.31E-5	8.92E-4
5604 \| 7529 \| 5595 \| 5594 \|
glutamate degradation III (via 4-aminobutyrate)	GLUDEG-I-PWY	3 / 38	4 / 934	2.42E-4	3.35E-3
2572 \| 7915 \| 2571 \|

PID BioCarta

Term	ID	Sample Number	Backgroud Number	P Value	Corrected P Value	Genes
melanocyte development and pigmentation pathway	100108	5 / 61	13 / 1190	2.82E-4	3.73E-3
5595 \| 596 \| 3265 \| 5594 \| 5604 \|

PID Curated

Term	ID	Sample Number	Backgroud Number	P Value	Corrected P Value
Ras signaling in the CD4+ TCR pathway	tcrraspathway	5 / 103	11 / 2341	5.60E-5	1.32E-3
5604 \| 5595 \| 5594 \| 5579 \| 673 \|
Downstream signaling in naive CD8+ T cells	cd8tcrdownstreampathway	8 / 103	44 / 2341	5.07E-4	5.76E-3
5595 \| 5594 \| 5579 \| 3105 \| 3458 \| 673 \| 5551 \| 3002 \|
S1P1 pathway	s1p_s1p1_pathway	5 / 103	17 / 2341	6.07E-4	6.37E-3
3690 \| 5743 \| 5595 \| 5594 \| 4363 \|
Syndecan-1-mediated signaling events	syndecan_1_pathway	5 / 103	17 / 2341	6.07E-4	6.37E-3
5595 \| 8573 \| 4233 \| 5594 \| 3082 \|

PID Reactome

Term	ID	Sample Number	Backgroud Number	P Value	Corrected P Value	Genes
Signal transduction by L1	500100	5 / 76	13 / 1890	9.22E-5	1.94E-3
5604 \| 4684 \| 5595 \| 3897 \| 5594 \|

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 579
Genes: 2,195
SNPs/VNTRs: 2,806
CNVs: 4,544
Linkage Regions: 158
Last Update: 07/25/2011
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