rs1060499733, DHX30

N. diseases: 11
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 0.851 0.120 3 47846757 missense variant A/G snv 0.800 1.000 2 2017 2017
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0