Evidence Details for SMCR5
Basic Information Top
| Gene Symbol: | SMCR5 ( NCRNA00034 ) |
|---|---|
| Gene Full Name: | Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding) |
| Band: | 17p11.2 |
| Quick Links | Entrez ID:140771; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 17918 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Potocki, 2007 | - | aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
| Nakamine, 2008 | Costa Rica | SNP microarray | ![]() | ![]() | autsim | - | - | - | - | 1 | - | 1 |
| Bucan, 2009 | USA | SNP microarray | ![]() | ![]() | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Zwaag, 2009 | - | SNP microarray | ![]() | ![]() | autism | - | - | - | - | 105 | 267 | 372 |
| Bremer, 2011 | - | aCGH | ![]() | ![]() | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top



