CDK13, cyclin dependent kinase 13, 8621

N. diseases: 141; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.710 Biomarker disease BEFREE Thus, Cdk13 KO mice might be a very useful model for further studies focused on delineating signaling circuits and molecular mechanisms underlying CHDFIDD caused by mutation in <i>CDK13</i> gene. 31440507 2019
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.710 GeneticVariation disease UNIPROT Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.710 GeneticVariation disease CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.710 GeneticVariation disease UNIPROT Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.710 Biomarker disease GENOMICS_ENGLAND Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.710 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.710 CausalMutation disease CLINVAR
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.710 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 GeneticVariation group BEFREE Mutations in CDK13 have recently been identified as a novel cause of syndromic intellectual disability. 30904094 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 GeneticVariation group BEFREE De novo variants in the gene encoding cyclin-dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID). 29393965 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 Biomarker group HPO
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009 2018
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 29021403 2018
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation phenotype CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009 2018
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation phenotype CLINVAR Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 29021403 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 29021403 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009 2018
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum
0.100 GeneticVariation disease CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
0.100 GeneticVariation disease CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 GeneticVariation group CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
0.100 GeneticVariation phenotype CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 GeneticVariation phenotype CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.100 GeneticVariation disease CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017