DisGeNET - a database of gene-disease associations

CAMK2A, calcium/calmodulin dependent protein kinase II alpha, 815

N. diseases: 87; N. variants: 23

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:

rs1554121872

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

29560374

2018

dbSNP:

rs1554121875

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

29560374

2018

dbSNP:

rs1554122129

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

29560374

2018

dbSNP:

rs1554122526

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

29560374

2018

dbSNP:

rs1554121872

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

29100089

2017

dbSNP:

rs1554121872

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors.

28130356

2017

dbSNP:

rs1554121875

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors.

28130356

2017

dbSNP:

rs1554121875

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

29100089

2017

dbSNP:

rs1554122129

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

29100089

2017

dbSNP:

rs1554122129

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors.

28130356

2017

dbSNP:

rs1554122526

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors.

28130356

2017

dbSNP:

rs1554122526

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

29100089

2017

dbSNP:

rs1554121872

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs1554121875

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs1554122129

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs1554122526

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs1554121872

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

CausalMutation

CLINVAR

dbSNP:

rs1554121875

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

CausalMutation

CLINVAR

dbSNP:

rs1554122129

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

CausalMutation

CLINVAR

dbSNP:

rs1554122526

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

CausalMutation

CLINVAR

dbSNP:

rs926027867

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

CausalMutation

CLINVAR

dbSNP:

rs926027867

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1554119274

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4748167
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63

0.700

GeneticVariation

UNIPROT

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

29784083

2018

dbSNP:

rs864309606

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4540481
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

0.700

GeneticVariation

UNIPROT

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

29560374

2018

dbSNP:

rs113331868

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

CUI:	C4020949
Disease:

Abnormal emotion/affect behavior

0.700

CausalMutation

CLINVAR

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

29100089

2017