Detail Information of AutLD0000068
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Caucasion |  | | autism | 222 | - | 222 | - | - | - | - | Schellenberg, 2006 | |
| Country: | USA | |||||||||||
| Marker Number: | 410 | |||||||||||
| Platform: | - | |||||||||||
| Method: | microsatellite-based genomic screen | |||||||||||
| Software Algorithm: | Merlin | |||||||||||
| Band: | 19p13.3 | |||||||||||
| Marker: | D19S209 | |||||||||||
| Region: | Chr19: 0 - 6900000 | |||||||||||
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 |
|---|---|---|---|
| AutG2593 | GAMT | 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 | |||
| AutG718 | C3 | 0 | 0 | 0 | 2 | 1 | 1 | 24 |
| AutG10347 | ABCA7 | 0 | 0 | 1 | 0 | 1 | 1 | 22 |
| AutG4616 | GADD45B | 0 | 0 | 0 | 1 | 1 | 1 | 13 |
| AutG60680 | CELF5 | 0 | 1 | 0 | 1 | 1 | 1 | 7 |
| AutG1613 | DAPK3 | 1 | 0 | 0 | 0 | 1 | 1 | 6 |
| AutG4145 | MATK | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG10362 | HMG20B | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG1153 | CIRBP | 0 | 0 | 0 | 2 | 1 | 1 | 4 |
| AutG2872 | MKNK2 | 0 | 0 | 0 | 2 | 1 | 1 | 4 |
| AutG56961 | SHD | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG91304 | C19orf6 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG399664 | MEX3D | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG148252 | DIRAS1 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG166 | AES | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG79187 | FSD1 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG9322 | TRIP10 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG5725 | PTBP1 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG92840 | REEP6 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG57455 | REXO1 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG7089 | TLE2 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG2769 | GNA15 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |