Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 CausalMutation CLINVAR Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 25266480

2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546

2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 CausalMutation CLINVAR Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546

2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 25266480

2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 CausalMutation CLINVAR GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 24916645

2015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 24916645

2015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 CausalMutation CLINVAR Functional abilities in children and adults with the CDKL5 disorder. 27528505

2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 CausalMutation CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753

2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753

2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Functional abilities in children and adults with the CDKL5 disorder. 27528505

2016