Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. 22031302 2011
dbSNP: rs11120822
rs11120822
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1281901
Disease:
Fatty acid measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
dbSNP: rs12137398
rs12137398
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1269683
Disease:
Major Depressive Disorder 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs7512599
rs7512599
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1269683
Disease:
Major Depressive Disorder 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. 29662059 2018
dbSNP: rs6691442
rs6691442
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs7547519
rs7547519
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0561843
Disease:
Memory, Episodic 		0.700 GeneticVariation GWASDB Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. 17470457 2007
dbSNP: rs12137398
rs12137398
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0525045
Disease:
Mood Disorders 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. 22031302 2011
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR A potential dimerization region of dCAMTA is critical for termination of fly visual response. 17537720 2007
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor. 25049392 2014
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. 24738973 2015
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. 22693284 2012
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation. 24145135 2014
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases. 16678093 2006
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. 17470457 2007
dbSNP: rs137974312
rs137974312
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0027819
Disease:
Neuroblastoma 		0.010 GeneticVariation BEFREE One CAMTA1 variant (T1336I) was not detected in 97 unaffected individuals, another (N1177K) resides in a conserved domain of the CAMTA1 protein and was found hemizygous in six neuroblastomas. 17222547 2007
dbSNP: rs41278952
rs41278952
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0027819
Disease:
Neuroblastoma 		0.010 GeneticVariation BEFREE One CAMTA1 variant (T1336I) was not detected in 97 unaffected individuals, another (N1177K) resides in a conserved domain of the CAMTA1 protein and was found hemizygous in six neuroblastomas. 17222547 2007
dbSNP: rs11120822
rs11120822
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0202177
Disease:
Phospholipid measurement 		C 0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
dbSNP: rs11121012
rs11121012
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C3828530
Disease:
Platelet Component Distribution Width Measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11121012
rs11121012
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs112193369
rs112193369
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0600139
Disease:
Prostate carcinoma 		0.700 GeneticVariation GWASCAT Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy. 31095341 2020
dbSNP: rs12563101
rs12563101
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012