Detail Information of AutLD0000083
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Caucasion |  |  | autism | 115 | - | 115 | - | - | - | - | Buxbaum, 2004 | |
| Country: | USA | |||||||||||
| Marker Number: | 335 | |||||||||||
| Platform: | - | |||||||||||
| Method: | microsatellite-based genomic screen | |||||||||||
| Software Algorithm: | Genehunter | |||||||||||
| Band: | 1q42.1 | |||||||||||
| Marker: | D1S1656 | |||||||||||
| Region: | Chr1: 222100000 - 228800000 | |||||||||||
2. Related Syndromic Genes TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Gene ID | Gene Symbol | Inheritance | Evidence Level |
|---|---|---|---|
| No data! | |||
3. Related Non-syndromic Genes Top| Gene ID | Gene Symbol | Evidence Score | Total Score | |||||
|---|---|---|---|---|---|---|---|---|
| Low-Scale Association | GWAS | Low-Scale Single Gene | Expression | CNV | Linkage | |||
| AutG2052 | EPHX1 | 0 | 0 | 0 | 1 | 1 | 1 | 13 |
| AutG149111 | CNIH3 | 1 | 0 | 0 | 0 | 1 | 1 | 4 |
| AutG5664 | PSEN2 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG3707 | ITPKB | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG58 | ACTA1 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |