CDK13, cyclin dependent kinase 13, 8621

N. diseases: 141; N. variants: 8
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519632
rs1057519632
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 29021403 2018
dbSNP: rs1057519632
rs1057519632
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009 2018
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009 2018
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 29021403 2018
dbSNP: rs1057519632
rs1057519632
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1057519632
rs1057519632
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1057519632
rs1057519632
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
dbSNP: rs1057519632
rs1057519632
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 25560765 2015
dbSNP: rs1057519632
rs1057519632
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 25560765 2015
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
dbSNP: rs1057519632
rs1057519632
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression. 24999027 2014
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression. 24999027 2014
dbSNP: rs1057519632
rs1057519632
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
dbSNP: rs1554317002
rs1554317002
Entrez Id: 8621;112267983
Gene Symbol: CDK13;LOC112267983
CDK13;LOC112267983
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR