rs1555954284, DDX3X

N. diseases: 24
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.
Aphasia
CUI: C0003537
Disease: Aphasia
3 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Babinski Reflex
CUI: C0034935
Disease: Babinski Reflex
11 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Congenital absence of kidney
CUI: C0542519
Disease: Congenital absence of kidney
3 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
222 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Iron accumulation in brain
CUI: C4021076
Disease: Iron accumulation in brain
38 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
MENTAL RETARDATION, X-LINKED 102
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
31 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Quadriparesis
CUI: C0270790
Disease: Quadriparesis
5 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0