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 |
|
|
|
Intellectual Disability
|
0.120 |
GeneticVariation
|
group |
BEFREE |
Mutations in CDK13 have recently been identified as a novel cause of syndromic intellectual disability.
|
30904094 |
2019 |
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 |
Intellectual Disability
|
0.120 |
Biomarker
|
group |
HPO |
|
|
|
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 |
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 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.
|
29222009 |
2018 |
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 |
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 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.
|
29222009 |
2018 |
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 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |