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.
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
CUI: C4540496
Disease: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
7 0.882 0.120 3 47848237 missense variant C/A;T snv 0.800 1.000 2 2017 2017
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.882 0.120 3 47848237 missense variant C/A;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.120 3 47848237 missense variant C/A;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 3 47848237 missense variant C/A;T snv 0.700 0
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.882 0.120 3 47848237 missense variant C/A;T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.120 3 47848237 missense variant C/A;T snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.882 0.120 3 47848237 missense variant C/A;T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.120 3 47848237 missense variant C/A;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.120 3 47848237 missense variant C/A;T snv 0.700 0