DisGeNET - a database of gene-disease associations

Source: UNIPROT

Gene: CAMK2B ×

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:

rs1554385203

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.800

GeneticVariation

UNIPROT

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

29560374

2018

dbSNP:

rs1554385203

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.800

GeneticVariation

UNIPROT

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

29100089

2017

dbSNP:

rs1554386687

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.800

GeneticVariation

UNIPROT

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

29560374

2018

dbSNP:

rs1554386687

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.800

GeneticVariation

UNIPROT

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

29100089

2017

dbSNP:

rs1554387293

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.800

GeneticVariation

UNIPROT

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

29560374

2018

dbSNP:

rs1554387293

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.800

GeneticVariation

UNIPROT

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

29100089

2017

dbSNP:

rs1554389088

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.800

GeneticVariation

UNIPROT

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

29560374

2018

dbSNP:

rs1554389088

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.800

GeneticVariation

UNIPROT

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

29100089

2017

dbSNP:

rs1554402092

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.800

GeneticVariation

UNIPROT

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

29560374

2018

dbSNP:

rs1554402092

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.800

GeneticVariation

UNIPROT

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

29100089

2017

dbSNP:

rs1554385111

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.700

GeneticVariation

UNIPROT

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

29560374

2018

dbSNP:

rs1554385111

CAMK2B

CUI:	C4540484
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

0.700

GeneticVariation

UNIPROT

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

29100089

2017

dbSNP:

rs555460132

CAMK2B

CUI:	C1319315
Disease:	Adenocarcinoma of large intestine

Adenocarcinoma of large intestine

0.700

GeneticVariation

UNIPROT