|
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 |
Biomarker
|
group |
HPO |
|
|
|
|
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 |
|
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 |
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
|
26539891 |
2015 |
|
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 |
|
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 |
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
|
27479907 |
2016 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
|
25560765 |
2015 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression.
|
24999027 |
2014 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
|
19344873 |
2009 |
|
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 |
|
Atrial Septal Defects
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Ventricular Septal Defects
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Congenital Heart Defects
|
0.020 |
Biomarker
|
group |
BEFREE |
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
|
28807008 |
2017 |
|
Congenital Heart Defects
|
0.020 |
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 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Interestingly, the oncogenic activity of these genes (excluding FAM82B) was highly correlated with gene-copy numbers in tumor samples (correlation coefficient, r>0.423), indicating that amplifications of CENPF, GMNN, and CDK13 genes are tightly linked and coincident in tumors.
|
22912832 |
2012 |
|
Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Two editing sites (Q103R and K96R) in CDK13 showed significant over-editing in tumor, and these phenomenon were validated in 60 HCC patients.
|
29996118 |
2018 |
|
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Exploration of genotype-phenotype correlations suggests a trend toward milder phenotypes in patients with mutations predicted to cause haploinsufficiency of CDK13, while missense mutations affecting amino acid residue 842 appear most likely to be associated with structural malformations.
|
30904094 |
2019 |
|
Adenocarcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
It was shown that high expression of CDK12 and CDK13 but no cyclin K proteins is associated with worse overall survival among adenocarcinoma patients.
|
30535470 |
2019 |
|
Malignant Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
CDK13 RNA over-editing sites mediated by ADAR1 may serve as novel cancer driver events in HCC progression.
|
29996118 |
2018 |
|
Developmental Disabilities
|
0.010 |
Biomarker
|
group |
BEFREE |
Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13.
|
31440507 |
2019 |
|
Corneal Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Autosomal recessive congenital hereditary endothelial dystrophy (AR-CHED or CHED2) is a bilateral corneal disorder manifesting at birth or in early childhood.
|
17679935 |
2007 |
|
Deglutition Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Differential diagnosis and recommendations for clinical care of patients with CDK13-related disorder are also described, emphasizing baseline echocardiography, vigilance for feeding and swallowing difficulties, and regular developmental evaluation as key components of care.
|
30904094 |
2019 |