. Author manuscript; available in PMC: 2014 Nov 19.

Published in final edited form as: Nature. 2014 Jan 22;506(7487):179–184. doi: 10.1038/nature12929

Table 4. Overlap between genes hit by de novo mutations in this study and other phenotypes.

Number of mutations (# mut) in present study in gene sets derived from previous studies. P-values are calculated by dnenrich for enrichment of mutations in the gene sets from previous studies (see Supplementary Text). Nominally significant p-values (<0.05) are in bold. Disease sets and mutation classes are as Table 2. Additional comparisons are given in Extended Data Table 5.

		Current study (mutations)
		Nonsynonymous (482)		Loss-of-function (64)
Gene set	Mutation class (N genes)	P	# mut	P	# mut
Schizophrenia (ref. 14)	Nonsynonymous (67)	0.22	6	0.021	3
Schizophrenia (ref. 14)	Loss-of-function (12)	0.051	3	0.11	1

Schizophrenia (ref. 13)	Nonsynonymous (136)	0.79	5	1	0
Schizophrenia (ref. 13)	Loss-of-function (20)	0.24	2	1	0

Autism spectrum disorder^6-9	Nonsynonymous (743)	0.14	45	0.023	9
Autism spectrum disorder^6-9	Loss-of-function (128)	0.015	11	0.00072	4

Intellectual disability^10,11	Nonsynonymous (132)	0.032	9	0.031	1
Intellectual disability^10,11	Loss-of-function (30)	0.27	1	0.019	1

Controls^7-10,13-14	Nonsynonymous (424)	0.59	21	1	0
Controls^7-10,13-14	Loss-of-function (49)	0.6	2	1	0