rs1555955296, CDKL5

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
0.700 CausalMutation CLINVAR
Developmental stagnation at onset of seizures
CUI: C1836829
Disease: Developmental stagnation at onset of seizures
0.700 CausalMutation CLINVAR
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
0.700 CausalMutation CLINVAR
Appendicular hypotonia
CUI: C4022919
Disease: Appendicular hypotonia
0.700 CausalMutation CLINVAR
Cyclin-dependent kinase-like 5 deficiency
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
0.700 CausalMutation CLINVAR
Macrotia
CUI: C0152421
Disease: Macrotia
0.700 CausalMutation CLINVAR
Tented upper lip vermilion
CUI: C1839767
Disease: Tented upper lip vermilion
0.700 CausalMutation CLINVAR
Short philtrum
CUI: C1861324
Disease: Short philtrum
0.700 CausalMutation CLINVAR
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 CausalMutation CLINVAR
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
0.700 CausalMutation CLINVAR
Oropharyngeal Dysphagia
CUI: C0267071
Disease: Oropharyngeal Dysphagia
0.700 CausalMutation CLINVAR
Focal Tonic Seizures
CUI: C0752324
Disease: Focal Tonic Seizures
0.700 CausalMutation CLINVAR
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
0.700 CausalMutation CLINVAR
Epileptic drop attack
CUI: C0270846
Disease: Epileptic drop attack
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Focal Clonic Seizures
CUI: C0752323
Disease: Focal Clonic Seizures
0.700 CausalMutation CLINVAR