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
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.010 Biomarker group BEFREE In this chapter, we review the 44 cases of CDK13-related disorder reported to date, highlighting key clinical pointers to this diagnosis including characteristic craniofacial features, feeding difficulties in infancy, and the presence of structural heart or brain malformations. 30904094 2019
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.010 GeneticVariation group BEFREE Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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
CUI: C0006325
Disease: Bruxism
Bruxism 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0009676
Disease: Confusion
Confusion 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0010200
Disease: Coughing
Coughing 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0013144
Disease: Drowsiness
Drowsiness 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 GeneticVariation phenotype CLINVAR
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: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		0.100 GeneticVariation phenotype CLINVAR
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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		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: 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 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 25560765 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression. 24999027 2014