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: C0549629
Disease: Abnormal delivery
Abnormal delivery 		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: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.010 GeneticVariation disease BEFREE De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. 28807008 2017
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1850048
Disease: Absent proximal finger flexion creases
Absent proximal finger flexion creases 		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: C1854882
Disease: Absent speech
Absent speech 		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: C1856644
Disease: Absent/hypoplastic coccyx
Absent/hypoplastic coccyx 		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: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.100 Biomarker disease HPO
CUI: C0001418
Disease: Adenocarcinoma
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
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		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: C0003467
Disease: Anxiety
Anxiety 		0.100 GeneticVariation disease CLINVAR
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: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease CLINVAR
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 GeneticVariation disease CLINVAR
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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 GeneticVariation disease CLINVAR
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		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: C0006325
Disease: Bruxism
Bruxism 		0.100 GeneticVariation phenotype CLINVAR
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: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		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: C0544008
Disease: Chandler syndrome
Chandler syndrome 		0.010 GeneticVariation disease BEFREE Members of 16 families with autosomal recessive CHED were genotyped for 13 microsatellite markers at the CHED2 locus on chromosome 20p13-12. 16825429 2007