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.
Absent reflex
CUI: C0234146
Disease: Absent reflex
16 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Actual Aspiration
CUI: C2712334
Disease: Actual Aspiration
8 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Choreoathetosis
CUI: C0085583
Disease: Choreoathetosis
9 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Hemiparesis
CUI: C0018989
Disease: Hemiparesis
6 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0