rs1555955296, CDKL5

N. diseases: 17
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Appendicular hypotonia
CUI: C4022919
Disease: Appendicular hypotonia
8 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Cyclin-dependent kinase-like 5 deficiency
116 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Developmental stagnation at onset of seizures
2 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Epileptic drop attack
CUI: C0270846
Disease: Epileptic drop attack
6 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Focal Clonic Seizures
CUI: C0752323
Disease: Focal Clonic Seizures
1 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Focal Tonic Seizures
CUI: C0752324
Disease: Focal Tonic Seizures
1 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Oropharyngeal Dysphagia
CUI: C0267071
Disease: Oropharyngeal Dysphagia
8 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Short philtrum
CUI: C1861324
Disease: Short philtrum
25 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Tented upper lip vermilion
CUI: C1839767
Disease: Tented upper lip vermilion
8 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
23 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0