DisGeNET - a database of gene-disease associations

CAMTA1, calmodulin binding transcription activator 1, 23261

N. diseases: 112; N. variants: 24

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1553238311

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C3553661
Disease:

CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION

0.700

GeneticVariation

CLINVAR

dbSNP:

rs863224853

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C3553661
Disease:

CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1193179

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.700

GeneticVariation

GWASDB

A genome-wide association study identifies novel risk loci for type 2 diabetes.

17293876

2007

dbSNP:

rs1553238271

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

A potential dimerization region of dCAMTA is critical for termination of fly visual response.

17537720

2007

dbSNP:

rs1553238271

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

A potential dimerization region of dCAMTA is critical for termination of fly visual response.

17537720

2007

dbSNP:

rs2412208

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.010

GeneticVariation

BEFREE

Among the 4256 patients included in the analysis (2589 male [60.8%] and 1667 female [39.2%]; mean [SD] age at onset, 59 [12] years), the following 2 novel loci were significantly associated with ALS survival: at 10q23 (rs139550538; P = 1.87 × 10-9) and in the CAMTA1 gene at 1p36 (rs2412208, P = 3.53 × 10-8).

27244217

2016

dbSNP:

rs2412208

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.700

GeneticVariation

GWASCAT

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

27244217

2016

dbSNP:

rs2412208

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C3542025
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

GWASCAT

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

27244217

2016

dbSNP:

rs2412208

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.700

GeneticVariation

GWASCAT

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

27244217

2016

dbSNP:

rs2412208

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C1862941
Disease:

Amyotrophic Lateral Sclerosis, Sporadic

0.700

GeneticVariation

GWASCAT

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

27244217

2016

dbSNP:

rs185305928

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C4277682
Disease:

Chemical and Drug Induced Liver Injury

0.700

GeneticVariation

GWASCAT

Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study.

28043905

2017

dbSNP:

rs1553238271

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor.

25049392

2014

dbSNP:

rs1553238271

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor.

25049392

2014

dbSNP:

rs1553238271

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.

17470457

2007

dbSNP:

rs1553238271

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.

17470457

2007

dbSNP:

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:

rs1553238271

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0026827
Disease:

Muscle hypotonia

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

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0432072
Disease:

Dysmorphic features

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:

rs10864302

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C1863416
Disease:

Autosomal dominant compelling helio ophthalmic outburst syndrome

0.700

GeneticVariation

GWASCAT

Detection and interpretation of shared genetic influences on 42 human traits.

27182965

2016

dbSNP:

rs10864294

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C1956346
Disease:

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

dbSNP:

rs6691442

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0596887
Disease:

mathematical ability

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:

rs4908678

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

30224653

2018

dbSNP:

rs7534398

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C0424574
Disease:

Duration of sleep

0.700

GeneticVariation

GWASCAT

Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

30846698

2019

dbSNP:

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

dbSNP:

rs11120822

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

CUI:	C1281901
Disease:

Fatty acid measurement

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