rs1555507479, GNAO1

N. diseases: 12
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.
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
CUI: C3809606
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
13 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
CUI: C4479569
Disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
10 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
Receptive language delay
CUI: C0454642
Disease: Receptive language delay
5 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0