Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554008611
rs1554008611
CTNND2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. 29127138

2017
dbSNP: rs1554008611
rs1554008611
CTNND2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. 26601658

2016
dbSNP: rs1554008611
rs1554008611
CTNND2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR CTNND2-a candidate gene for reading problems and mild intellectual disability. 25473103

2015
dbSNP: rs1554008611
rs1554008611
CTNND2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Loss of δ-catenin function in severe autism. 25807484

2015
dbSNP: rs1554008611
rs1554008611
CTNND2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR CTNND2 deletion and intellectual disability. 25839933

2015
dbSNP: rs1554008611
rs1554008611
CTNND2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR The clinical significance of small copy number variants in neurodevelopmental disorders. 25106414

2014
dbSNP: rs1554008611
rs1554008611
CTNND2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH. 15733271

2005
dbSNP: rs1554008611
rs1554008611
CTNND2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Dual regulation of neuronal morphogenesis by a delta-catenin-cortactin complex and Rho. 12835311

2003