RAI1, retinoic acid induced 1, 10743

N. diseases: 205; N. variants: 22
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555565243
rs1555565243
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR OR2W3 sequence variants are unlikely to cause inherited retinal diseases. 26891008 2016
dbSNP: rs1555565243
rs1555565243
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C0000772
Disease:
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
dbSNP: rs1555565243
rs1555565243
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C0000772
Disease:
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
dbSNP: rs1555565243
rs1555565243
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C0000772
Disease:
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
dbSNP: rs1555565243
rs1555565243
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C0000772
Disease:
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
dbSNP: rs1555565243
rs1555565243
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C0000772
Disease:
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
dbSNP: rs1555565243
rs1555565243
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C0000772
Disease:
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
dbSNP: rs1555565243
rs1555565243
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. 15788730 2005
dbSNP: rs1555565243
rs1555565243
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. 15565467 2004