Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.710 CausalMutation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.710 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 Biomarker HPO

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009

2018

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891

2015

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 29021403

2018

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907

2016

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 25560765

2015

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression. 24999027

2014

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873

2009

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0003467
Disease: Anxiety
Anxiety
0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum
0.100 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0004106
Disease: Astigmatism
Astigmatism
0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 Biomarker HPO

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0006325
Disease: Bruxism
Bruxism
0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
0.100 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0009676
Disease: Confusion
Confusion
0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0009806
Disease: Constipation
Constipation
0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0010200
Disease: Coughing
Coughing
0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0013144
Disease: Drowsiness
Drowsiness
0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 GeneticVariation CLINVAR