| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | CausalMutation | phenotype | CLINVAR | OR2W3 sequence variants are unlikely to cause inherited retinal diseases. | 26891008 | 2016 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. | 25781356 | 2015 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. | 26544804 | 2015 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. | 21897445 | 2012 | ||||
|
0.100 | CausalMutation | phenotype | 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 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. | 16845274 | 2006 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. | 17041942 | 2006 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. | 15788730 | 2005 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. | 15565467 | 2004 |