Detail Information of AutLD0000082
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Not Mentioned |  | | autism | 207 | - | 207 | - | 420 | - | - | Lamb, 2005 | |
| Country: | - | |||||||||||
| Marker Number: | 396 | |||||||||||
| Platform: | - | |||||||||||
| Method: | microsatellite-based genomic screen | |||||||||||
| Software Algorithm: | ASPEX | |||||||||||
| Band: | 17p13.1 | |||||||||||
| Marker: | D17S513 | |||||||||||
| Region: | Chr17: 6800000 - 11200000 | |||||||||||
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 |
|---|---|---|---|
| AutG3000 | GUCY2D | AR | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
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 | |||
| AutG1742 | DLG4 | 0 | 0 | 1 | 0 | 1 | 1 | 12 |
| AutG5187 | PER1 | 1 | 0 | 0 | 0 | 1 | 1 | 12 |
| AutG6462 | SHBG | 1 | 0 | 0 | 0 | 1 | 1 | 4 |
| AutG162387 | MFSD6L | 0 | 0 | 0 | 2 | 1 | 1 | 4 |
| AutG6154 | RPL26 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG388335 | TMEM220 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |