rs1554333853, CDK13

N. diseases: 54
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.800 GeneticVariation 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
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.800 GeneticVariation 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
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.800 GeneticVariation UNIPROT Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
Duplicated collecting system
CUI: C1858565
Disease: Duplicated collecting system
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Poor head control
CUI: C1836038
Disease: Poor head control
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Hypoplastic coccygeal vertebrae
CUI: C2751480
Disease: Hypoplastic coccygeal vertebrae
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Microstomia
CUI: C0026034
Disease: Microstomia
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Upper airway obstruction
CUI: C0740852
Disease: Upper airway obstruction
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Low set ears
CUI: C0239234
Disease: Low set ears
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Opisthotonus
CUI: C0151818
Disease: Opisthotonus
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Long narrow head
CUI: C0221358
Disease: Long narrow head
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Small hand
CUI: C0575802
Disease: Small hand
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Short nose
CUI: C1854114
Disease: Short nose
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Contracture of tendo achilles
CUI: C0410264
Disease: Contracture of tendo achilles
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Large fleshy ears
CUI: C3808403
Disease: Large fleshy ears
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Prominent glabella
CUI: C1860247
Disease: Prominent glabella
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017