Detail Information of AutLD0000033
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Not Mentioned |  | | PDD | 152 | - | 152 | - | - | - | - | Monaco, 2001 | |
| Country: | - | |||||||||||
| Marker Number: | 394 | |||||||||||
| Platform: | - | |||||||||||
| Method: | microsatellite-based genomic screen | |||||||||||
| Software Algorithm: | ASPEX | |||||||||||
| Band: | 9q34.3 | |||||||||||
| Marker: | D9S1826 | |||||||||||
| Region: | Chr9: 136600000 - 140273252 | |||||||||||
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 |
|---|---|---|---|
| AutG79813 | EHMT1 | AD | 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 | |||
| AutG79813 | EHMT1 | 0 | 0 | 1 | 0 | 1 | 1 | 12 |
| AutG9858 | KIAA0649 | 0 | 0 | 0 | 2 | 1 | 1 | 4 |
| AutG9022 | CLIC3 | 0 | 0 | 0 | 2 | 1 | 1 | 4 |
| AutG10811 | NOXA1 | 0 | 0 | 0 | 2 | 1 | 1 | 4 |
| AutG57582 | KCNT1 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG9919 | SEC16A | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG55684 | C9orf86 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG2902 | GRIN1 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG6621 | SNAPC4 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG389812 | LCN15 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |