CDK13, cyclin dependent kinase 13, 8621

N. diseases: 141; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C4479246
Disease:
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.800 GeneticVariation UNIPROT Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C4479246
Disease:
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		G 0.800 GeneticVariation 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: C4479246
Disease:
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.800 GeneticVariation UNIPROT Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C4479246
Disease:
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.800 GeneticVariation UNIPROT 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: C4479246
Disease:
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.800 GeneticVariation UNIPROT 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: C4479246
Disease:
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		G 0.800 CausalMutation CLINVAR
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: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		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: 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: C0432072
Disease:
Dysmorphic features 		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: 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: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009 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: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C1858565
Disease:
Duplicated collecting system 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0018817
Disease:
Atrial Septal Defects 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0549629
Disease:
Abnormal delivery 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C1836038
Disease:
Poor head control 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C2751480
Disease:
Hypoplastic coccygeal vertebrae 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0026034
Disease:
Microstomia 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0740852
Disease:
Upper airway obstruction 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0239234
Disease:
Low set ears 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs1554333853
rs1554333853
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C1848673
Disease:
Hypoplastic feet 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017