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.
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
CUI: C4540086
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
1 0.827 0.160 17 44212851 missense variant C/T snv 0.800 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 17 44212851 missense variant C/T snv 0.700 1.000 1 2018 2018
Nerve Degeneration
CUI: C0027746
Disease: Nerve Degeneration
17 0.827 0.160 17 44212851 missense variant C/T snv 0.700 1.000 1 2018 2018
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.160 17 44212851 missense variant C/T snv 0.700 1.000 1 2018 2018
Abnormal corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
10 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
Dysphasia
CUI: C0973461
Disease: Dysphasia
4 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
17 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
Nasal, dysarthic speech
CUI: C1834664
Disease: Nasal, dysarthic speech
3 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0