rs1553238311
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
A
0.700
GeneticVariation
CLINVAR
rs863224853
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
G
0.700
GeneticVariation
CLINVAR
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases.
16678093
2006
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases.
16678093
2006
rs1193179
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Diabetes Mellitus, Non-Insulin-Dependent
0.700
GeneticVariation
GWASDB
A genome-wide association study identifies novel risk loci for type 2 diabetes.
17293876
2007
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.
17470457
2007
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
A potential dimerization region of dCAMTA is critical for termination of fly visual response.
17537720
2007
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
A potential dimerization region of dCAMTA is critical for termination of fly visual response.
17537720
2007
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.
17470457
2007
rs7547519
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Memory, Episodic
0.700
GeneticVariation
GWASDB
Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.
17470457
2007
rs137974312
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
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
rs41278952
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
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
rs1193179
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Diabetes Mellitus, Non-Insulin-Dependent
0.700
GeneticVariation
GWASDB
Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans.
19184112
2009
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
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
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
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
rs12563101
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Serum albumin measurement
0.700
GeneticVariation
GWASDB
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
22286219
2012
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
22693284
2012
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
22693284
2012
rs11120822
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
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
rs11120822
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
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
rs10864294
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Coronary Artery Disease
0.010
GeneticVariation
BEFREE
Exploration of the identified genes for the presence of disease associated variants, using Affymetrix 500K genotyping and Illumina custom genotyping arrays, highlighted a region upstream of VAMP3 within CAMTA1 to be associated with increased risk of CAD [rs10864294 P = 0.015, odds ratio (OR) = 1.30, 95% confidence interval (CI) = 1.1-1.6, 1471 cases, 2737 controls] and aggressive PD (AgP; P = 0.008, OR = 1.31, 95% CI = 1.1-1.6, 864 cases, 3664 controls).
23813974
2013
rs2301462
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Coronary Artery Disease
0.010
GeneticVariation
BEFREE
In silico replication in a meta-analysis of 14 genome-wide association studies of CAD of the CARDIoGRAM Consortium identified rs2301462 , located on the same haplotype block, as associated with P = 0.001 upon adjustment for sex and age.
23813974
2013
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.
24145135
2014
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor.
25049392
2014
rs1553238271
×
Entrez Id:
23261
Gene Symbol:
CAMTA1
CAMTA1
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor.
25049392
2014