Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR OR2W3 sequence variants are unlikely to cause inherited retinal diseases. 26891008

2016
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. 25781356

2015
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. 26544804

2015
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 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
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 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
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. 16845274

2006
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. 17041942

2006
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. 15788730

2005
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. 15565467

2004