Detail Information of AutLD0000039

1. Sample AND Method Top

Ancestry	ADI-R	ADOS	Diagnosis	Family				Individual			Reference
Ancestry	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total	Reference
Not Mentioned			PDD	152	-	152	-	-	-	-	Monaco, 2001
Country:	-
Marker Number:	394
Platform:	-
Method:	microsatellite-based genomic screen
Software Algorithm:	ASPEX
Band:	17q11.2
Marker:	HTTINT2
Region:	Chr17: 23200000 - 28800000

2. Related Syndromic Genes Top

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.

Gene ID	Gene Symbol	Inheritance	Evidence Level
AutG84282	RNF135	AD	Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
AutG4763	NF1	AD	Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.

3. Related Non-syndromic Genes Top

Gene ID	Gene Symbol	Evidence Score						Total Score
Gene ID	Gene Symbol	Low-Scale Association	GWAS	Low-Scale Single Gene	Expression	CNV	Linkage	Total Score
AutG6532	SLC6A4	3	0	3	0	2	2	40
AutG4763	NF1	2	0	0	0	2	2	18
AutG4642	MYO1D	1	0	0	0	2	2	16
AutG374786	EFCAB5	0	0	1	0	2	2	14
AutG4974	OMG	2	0	0	0	2	2	8
AutG642	BLMH	1	0	0	1	2	2	7
AutG4843	NOS2	1	0	0	1	2	2	7
AutG84440	RAB11FIP4	0	0	0	2	2	2	6
AutG26022	TMEM98	1	0	0	0	2	2	6
AutG84282	RNF135	1	0	0	0	2	2	6
AutG40	ACCN1	1	0	0	0	2	2	6
AutG2319	FLOT2	0	0	0	2	2	2	6
AutG124925	SEZ6	0	0	0	1	2	2	5
AutG57532	NUFIP2	0	0	0	1	2	2	5
AutG8851	CDK5R1	0	0	0	1	2	2	5
AutG124923	SGK494	0	0	0	1	2	2	5
AutG399687	MYO18A	0	0	0	1	2	2	5
AutG84940	CORO6	0	0	0	1	2	2	5
AutG162494	RHBDL3	0	0	0	1	2	2	5
AutG7448	VTN	0	0	0	1	2	2	5

Simple Query:

Paper Collected: 6/30/2018

Last Update: 8/26/2018