CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Angelman Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.520 GeneticVariation disease BEFREE Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome). 24839169 2014
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.520 Biomarker disease CTD_human Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 19241098 2009
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.520 GeneticVariation disease BEFREE Here, we report that de novo missense mutations in CDKL5 are associated with a severe phenotype of early-onset infantile spasms and clinical features that overlap those of other neurodevelopmental disorders, such as Rett syndrome and Angelman syndrome. 15499549 2004
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.520 Biomarker disease GENOMICS_ENGLAND