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 0.925 0.160 3 47848246 missense variant C/T snv 0.800 1.000 2 2017 2017
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 0.160 3 47848246 missense variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.160 3 47848246 missense variant C/T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.925 0.160 3 47848246 missense variant C/T snv 0.700 0