rs587784347, PLA2G6

N. diseases: 38
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.
Bulbar signs
CUI: C1856507
Disease: Bulbar signs
1 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Cerebellar gliosis
CUI: C4022768
Disease: Cerebellar gliosis
1 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Decreased/absent ankle reflexes
CUI: C1850816
Disease: Decreased/absent ankle reflexes
1 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Reflex, Corneal, Decreased
CUI: C0151572
Disease: Reflex, Corneal, Decreased
1 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
T2 hypointense basal ganglia
CUI: C4022743
Disease: T2 hypointense basal ganglia
1 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Iron accumulation in globus pallidus
CUI: C4022786
Disease: Iron accumulation in globus pallidus
2 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Proportionate shortening of all digits
CUI: C1862157
Disease: Proportionate shortening of all digits
2 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Ankle contracture
CUI: C1837407
Disease: Ankle contracture
3 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Thickened helices
CUI: C1837732
Disease: Thickened helices
3 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Flexion contracture - wrist
CUI: C0409345
Disease: Flexion contracture - wrist
4 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Upper limb hypertonia
CUI: C4021898
Disease: Upper limb hypertonia
4 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Adducted thumb
CUI: C3554617
Disease: Adducted thumb
5 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Saccadic smooth pursuit
CUI: C1836479
Disease: Saccadic smooth pursuit
5 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Cerebellar cortical atrophy
CUI: C4024710
Disease: Cerebellar cortical atrophy
7 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Deep palmar crease
CUI: C1857539
Disease: Deep palmar crease
8 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Loss of speech
CUI: C0542223
Disease: Loss of speech
8 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Dystonia, Limb
CUI: C0751093
Disease: Dystonia, Limb
9 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Heart murmur
CUI: C0018808
Disease: Heart murmur
10 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Leukomalacia, Periventricular
CUI: C0023529
Disease: Leukomalacia, Periventricular
10 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Decreased muscle mass
CUI: C1837108
Disease: Decreased muscle mass
12 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Bradykinesia
CUI: C0233565
Disease: Bradykinesia
16 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
20 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0