Detail Information of AutLD0000152
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Caucasion |  | | ASD | 40 | - | 40 | - | 192 | 461 | 653 | Allen-Brady, 2010 | |
| Country: | USA | |||||||||||
| Marker Number: | 6044 | |||||||||||
| Platform: | Illumina Linkage Panel 12 | |||||||||||
| Method: | SNP-based genomic screen | |||||||||||
| Software Algorithm: | MCLINK | |||||||||||
| Band: | 6q22.32-q24.1 | |||||||||||
| Marker: | rs1570056 | |||||||||||
| Region: | Chr6: 126200000 - 142900000 | |||||||||||
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 |
|---|---|---|---|
| AutG54806 | AHI1 | AR | 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 | |||||
|---|---|---|---|---|---|---|---|---|
| Low-Scale Association | GWAS | Low-Scale Single Gene | Expression | CNV | Linkage | |||
| AutG54806 | AHI1 | 1 | 0 | 0 | 3 | 1 | 1 | 25 |
| AutG5191 | PEX7 | 1 | 0 | 0 | 0 | 1 | 1 | 4 |
| AutG27115 | PDE7B | 0 | 0 | 0 | 2 | 1 | 1 | 4 |
| AutG5796 | PTPRK | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG9465 | AKAP7 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG10370 | CITED2 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG387357 | THEMIS | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG154075 | SAMD3 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG6446 | SGK1 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG23593 | HEBP2 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG51534 | VTA1 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |