Detail Information of AutLD0000116
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Caucasion |  | | ASD | 133 | - | 133 | - | 280 | - | - | Spence, 2006 | |
| Endophenotype: | proband phrase and word speech delay | |||||||||||
| Country: | USA | |||||||||||
| Marker Number: | 335 | |||||||||||
| Platform: | - | |||||||||||
| Method: | microsatellite-based genomic screen | |||||||||||
| Software Algorithm: | Genehunter | |||||||||||
| Band: | 12q13.13 | |||||||||||
| Marker: | - | |||||||||||
| Region: | Chr12: 48400000 - 53100000 | |||||||||||
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 | |||
| AutG9119 | KRT75 | 0 | 0 | 0 | 1 | 1 | 1 | 13 |
| AutG3848 | KRT1 | 0 | 0 | 0 | 2 | 1 | 1 | 4 |
| AutG9498 | SLC4A8 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG3853 | KRT6A | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG3695 | ITGB7 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG7786 | MAP3K12 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG25946 | ZNF385A | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG23017 | FAIM2 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG5204 | PFDN5 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG440101 | FLJ12825 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |