NCAM2, neural cell adhesion molecule 2, 4685

N. diseases: 21; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 GeneticVariation disease GWASCAT Impact of IFNL4 Genetic Variants on Sustained Virologic Response and Viremia in Hepatitis C Virus Genotype 3 Patients. 31260374 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.100 GeneticVariation disease GWASCAT Genome-wide association studies identify susceptibility loci for epithelial ovarian cancer in east Asian women. 30898391 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.100 GeneticVariation disease GWASCAT Identification of nine new susceptibility loci for endometrial cancer. 30093612 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease GWASDB A genome-wide association study on obesity and obesity-related traits. 21552555 2011
CUI: C0028754
Disease: Obesity
Obesity
0.100 GeneticVariation disease GWASCAT A genome-wide association study on obesity and obesity-related traits. 21552555 2011
CUI: C0023980
Disease: Longevity
Longevity
0.100 GeneticVariation phenotype GWASCAT Joint influence of small-effect genetic variants on human longevity. 20834067 2010
CUI: C0023980
Disease: Longevity
Longevity
0.100 GeneticVariation phenotype GWASDB Joint influence of small-effect genetic variants on human longevity. 20834067 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.020 AlteredExpression disease BEFREE Our results indicate that synapse maturation is inhibited in NCAM2-overexpressing neurons and suggest that changes in NCAM2 levels and altered submembrane Ca2+ dynamics can cause defects in synapse maturation in Down syndrome and other brain disorders associated with abnormal NCAM2 expression. 29522129 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.020 AlteredExpression disease BEFREE Our results indicate that synapse maturation is inhibited in NCAM2-overexpressing neurons and suggest that changes in NCAM2 levels and altered submembrane Ca2+ dynamics can cause defects in synapse maturation in Down syndrome and other brain disorders associated with abnormal NCAM2 expression. 29522129 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.020 GeneticVariation disease BEFREE NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition? 27596683 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 Biomarker disease BEFREE Our data indicate that Aβ-dependent disruption of NCAM2 functions in AD hippocampus contributes to synapse loss. 26611261 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 GeneticVariation disease BEFREE Two genes found to be near the top SNPs, CYP19A1 (rs2899472, p = 1.90 × 10(-7)) and NCAM2 (rs1022442, p = 2.75 × 10(-7)) have been reported as genetic factors related to the progression of AD from previous studies. 20932310 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.020 Biomarker disease BEFREE The deletion involves 19 genes, including NCAM2 and GRIK1, both of which are associated with normal brain development and function, and have been considered as possible candidate genes in autism and other neurobehavioral disorders. 20034085 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.020 Biomarker disease BEFREE In addition, the role of NCAM2 in the pathophysiology of Down syndrome is unknown. 9226371 1997
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.020 Biomarker disease BEFREE In addition, the role of NCAM2 in the pathophysiology of Down syndrome is unknown. 9226371 1997
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
0.010 AlteredExpression group BEFREE Our results indicate that synapse maturation is inhibited in NCAM2-overexpressing neurons and suggest that changes in NCAM2 levels and altered submembrane Ca2+ dynamics can cause defects in synapse maturation in Down syndrome and other brain disorders associated with abnormal NCAM2 expression. 29522129 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.010 GeneticVariation disease BEFREE NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition? 27596683 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 Biomarker disease BEFREE Our reported case raises the questions whether the NCAM2-deletion is the true cause of the ASD or only a risk factor and whether there might be any connection in NCAM2 with skull-size 27596683 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 GeneticVariation group BEFREE SNP microarray and whole exome sequencing identified a homozygous frameshift mutation (p.L870V) in SCARF2 and predicted damaging mutations in several genes, most notably DGCR2 (p.P75L) and NCAM2 (p.S147G), both possible candidates for this child's intellectual disability. 27375131 2016
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation
0.010 Biomarker phenotype BEFREE Poor axonal growth and fasciculation is observed in animal models deficient for NCAM2. 25464110 2015
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.010 GeneticVariation group BEFREE 21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders. 25464110 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE In conclusion, NCAM2 should be a novel gene therapy target for the treatment of prostate and breast cancer. 21214674 2011