rs1555565243
|
Entrez Id: |
10743 |
Gene Symbol: |
RAI1 |
RAI1
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
|
15565467 |
2004 |
rs1555565243
|
Entrez Id: |
10743 |
Gene Symbol: |
RAI1 |
RAI1
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
|
15788730 |
2005 |
rs1555565243
|
Entrez Id: |
10743 |
Gene Symbol: |
RAI1 |
RAI1
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
|
16845274 |
2006 |
rs1555565243
|
Entrez Id: |
10743 |
Gene Symbol: |
RAI1 |
RAI1
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
|
17041942 |
2006 |
rs1555565243
|
Entrez Id: |
10743 |
Gene Symbol: |
RAI1 |
RAI1
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
|
21857958 |
2011 |
rs1555565243
|
Entrez Id: |
10743 |
Gene Symbol: |
RAI1 |
RAI1
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
|
21897445 |
2012 |
rs1555565243
|
Entrez Id: |
10743 |
Gene Symbol: |
RAI1 |
RAI1
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.
|
25781356 |
2015 |
rs1555565243
|
Entrez Id: |
10743 |
Gene Symbol: |
RAI1 |
RAI1
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
|
26544804 |
2015 |
rs1555565243
|
Entrez Id: |
10743 |
Gene Symbol: |
RAI1 |
RAI1
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
OR2W3 sequence variants are unlikely to cause inherited retinal diseases.
|
26891008 |
2016 |