rs267606670, ATP1A3

N. diseases: 19
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.
DYSTONIA 12
CUI: C1868681
Disease: DYSTONIA 12
25 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 1.000 5 2009 2014
Abnormal posture
CUI: C0231471
Disease: Abnormal posture
7 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Abnormality of the dentition
CUI: C0262444
Disease: Abnormality of the dentition
16 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
38 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
CAPOS syndrome
CUI: C1832466
Disease: CAPOS syndrome
11 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
42 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Maternal seizures
CUI: C4022010
Disease: Maternal seizures
3 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Sagittal craniosynostosis
CUI: C0432123
Disease: Sagittal craniosynostosis
13 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Slurred speech
CUI: C0234518
Disease: Slurred speech
10 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Taurodontism
CUI: C0266039
Disease: Taurodontism
10 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Tooth absent
CUI: C0457756
Disease: Tooth absent
6 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Widely spaced teeth
CUI: C1844813
Disease: Widely spaced teeth
10 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.790 0.320 19 41968837 missense variant C/A;T snv 0.010 1.000 1 2012 2012
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.790 0.320 19 41968837 missense variant C/A;T snv 0.010 1.000 1 2012 2012