rs587783405, CDKL5

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bruxism
CUI: C0006325
Disease: Bruxism
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Cyclin-dependent kinase-like 5 deficiency
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
0.700 CausalMutation CLINVAR
Stereotypical body rocking
CUI: C4023013
Disease: Stereotypical body rocking
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Stereotypical hand wringing
CUI: C4023014
Disease: Stereotypical hand wringing
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
0.700 CausalMutation CLINVAR