DisGeNET - a database of gene-disease associations

CAMK2B, calcium/calmodulin dependent protein kinase II beta, 816

N. diseases: 80; N. variants: 16

Disease: Muscle hypotonia ×

Variant: rs1554389088 ×

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:

rs1554389088

Entrez Id:	816
Gene Symbol:	CAMK2B

CAMK2B

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

29100083

2017

dbSNP:

rs1554389088

Entrez Id:	816
Gene Symbol:	CAMK2B

CAMK2B

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

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

29100089

2017

dbSNP:

rs1554389088

Entrez Id:	816
Gene Symbol:	CAMK2B

CAMK2B

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

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

29100089

2017

dbSNP:

rs1554389088

Entrez Id:	816
Gene Symbol:	CAMK2B

CAMK2B

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

The molecular basis of CaMKII function in synaptic and behavioural memory.

11994750

2002