CTNND2, catenin delta 2, 1501

N. diseases: 117; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10059423
rs10059423
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs10059423
rs10059423
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs31837
rs31837
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs31837
rs31837
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs1554008611
rs1554008611
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. 29127138 2017
dbSNP: rs2907092
rs2907092
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0019693
Disease:
HIV Infections 		G 0.700 GeneticVariation GWASCAT Genome-wide admixture and association study of subclinical atherosclerosis in the Women's Interagency HIV Study (WIHS). 29206233 2017
dbSNP: rs1554008611
rs1554008611
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. 26601658 2016
dbSNP: rs1554008611
rs1554008611
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR CTNND2-a candidate gene for reading problems and mild intellectual disability. 25473103 2015
dbSNP: rs1554008611
rs1554008611
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Loss of δ-catenin function in severe autism. 25807484 2015
dbSNP: rs1554008611
rs1554008611
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR CTNND2 deletion and intellectual disability. 25839933 2015
dbSNP: rs11744876
rs11744876
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C3542025
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation GWASCAT Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. 24529757 2014
dbSNP: rs11744876
rs11744876
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 GeneticVariation GWASCAT Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. 24529757 2014
dbSNP: rs11744876
rs11744876
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.700 GeneticVariation GWASCAT Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. 24529757 2014
dbSNP: rs11744876
rs11744876
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 GeneticVariation GWASCAT Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. 24529757 2014
dbSNP: rs1554008611
rs1554008611
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR The clinical significance of small copy number variants in neurodevelopmental disorders. 25106414 2014
dbSNP: rs116210778
rs116210778
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs2727603
rs2727603
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs2973488
rs2973488
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0234985
Disease:
Mental deterioration 		0.700 GeneticVariation GWASDB A genome-wide scan for common variants affecting the rate of age-related cognitive decline. 22054870 2012
dbSNP: rs6891903
rs6891903
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0004352
Disease:
Autistic Disorder 		0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
dbSNP: rs16901233
rs16901233
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0027404
Disease:
Narcolepsy 		0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
dbSNP: rs1554008611
rs1554008611
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0026650
Disease:
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
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Dual regulation of neuronal morphogenesis by a delta-catenin-cortactin complex and Rho. 12835311 2003
dbSNP: rs6885224
rs6885224
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0027092
Disease:
Myopia 		0.020 GeneticVariation BEFREE For the CTNND2 gene, neither rs6885224 nor rs12716080 was significantly associated with myopia {rs6885224: [OR and 95%CI: 1.051 (0.795-1.391), p=0.725], rs12716080: [OR and 95%CI: 1.173 (0.990-1.390), p=0.065]}. 24672220 2014
dbSNP: rs6885224
rs6885224
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0027092
Disease:
Myopia 		0.020 GeneticVariation BEFREE The minor allele C of rs6885224 was protective against myopia in this study but was a risk allele in a previous study. 21911587 2011
dbSNP: rs779153680
rs779153680
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0920296
Disease:
Developmental reading disorder 		0.010 GeneticVariation BEFREE Analysis of coding variants from two affected individuals identified rs146011974G > A (Ala1039Thr), a rare variant within the NCAN gene co-segregating with DD in the pedigree. 28839234 2017