Evidence Detail for SCNN1D
Basic Information Top
| Gene Symbol: | SCNN1D ( ENaCd,ENaCdelta,MGC149710,MGC149711,SCNED,dNaCh ) |
|---|---|
| Gene Full Name: | sodium channel, nonvoltage-gated 1, delta |
| Band: | 1p36.3-p36.2 |
| Quick Links | Entrez ID:6339; OMIM: 601328; Uniprot ID:SCNND_HUMAN; ENSEMBL ID: ENSG00000162572 |
Sequences Top Evidence Statistic TopClick 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 | Expression | CNV | Linkage | Low Scale Association | Other Studies | Total |
|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (1) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 3 (1) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) TopGenome-Wide Association Studies(By Ethnic Group) TopOther Low Scale Gene Studies TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Population | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) |  | | - | autism | 16 (6.25%) |
1.09737 | Up | 28.6057 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Population | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
CNV Studies Top| CNV Name | Chr | Band | Gain/Loss | Number of CNVs | Evidence Type | Reference | |
|---|---|---|---|---|---|---|---|
| Case | Control | ||||||
| AutCNV0000126 | 1 | 1p36 | loss | 1 | - | Denovo CNVs; | Jacquemont, 2006 |
| AutCNV0000332 | 1 | 1p36 | loss | 3 | - | CNVs Not Present In Control; Denovo CNVs; | Bucan, 2009 |
| AutCNV0000346 | 1 | 1p36.33 | - | - | - | CNVs Only Present In Patients; Significant Enriched CNVs; | Zwaag, 2009 |
| AutCNV0000347 | 1 | 1p36.33 | - | - | - | CNVs Only Present In Patients; Significant Enriched CNVs; | Zwaag, 2009 |
| AutCNV0000441 | 1 | 1p36.32-36.33 | Loss | 2 | - | Overlapping/Recurrent CNVs; | Gregory, 2009 |
| AutCNV0000442 | 1 | 1p36.32-36.33 | Gain | 1 | - | Overlapping/Recurrent CNVs; | Gregory, 2009 |
| AutCNV0000443 | 1 | 1p36.32-36.33 | Loss | 2 | - | Overlapping/Recurrent CNVs; | Gregory, 2009 |
| AutCNV0003119 | 1 | 1p36.32-36.33 | loss | 1 | - | CNVs Only Present In Patients; | Gai, 2011 |
Linkage Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.
