DLX2, distal-less homeobox 2, 1746

N. diseases: 34; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4410254
rs4410254
Entrez Id: 1746;104326193
Gene Symbol: DLX2;DLX2-DT
DLX2;DLX2-DT
CUI: C0399379
Disease:
Dentin dysplasia, type 1 		0.010 GeneticVariation BEFREE Using a large Chinese family with 14 DDI patients, we mapped the gene locus responsible for DDI to 3p26.1-3p24.3 and further identified a missense mutation, c.353C>A (p.P118Q) in the SSUH2 gene on 3p26.1, which co-segregated with DDI. 27680507 2017
dbSNP: rs743605
rs743605
Entrez Id: 1746;104326193
Gene Symbol: DLX2;DLX2-DT
DLX2;DLX2-DT
CUI: C0004352
Disease:
Autistic Disorder 		0.010 GeneticVariation BEFREE The common alleles of rs743605 and rs4519482 were significantly associated with autism (P<0.012) in the first sample of 138 MPX families, with the latter remaining significant after correction for multiple testing (P(cor)=0.0046). 18728693 2009