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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 29021403 2018
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0040822
Disease: Tremor
Tremor 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.100 Biomarker phenotype HPO
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		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: C0231274
Disease: Intolerant of heat
Intolerant of heat 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0234853
Disease: Facial grimacing
Facial grimacing 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		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: C0239815
Disease: Hand clenching
Hand clenching 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		0.100 Biomarker phenotype HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		0.100 GeneticVariation phenotype CLINVAR
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: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		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: C0427086
Disease: Involuntary Movements
Involuntary Movements 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0476217
Disease: Head movements abnormal
Head movements abnormal 		0.100 GeneticVariation phenotype CLINVAR