rs555145190, NAGLU

N. diseases: 21
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.
MPS III B
CUI: C0086648
Disease: MPS III B
92 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 1.000 1 2005 2005
Abnormal aggressive, impulsive or violent behavior
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
3 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Chronic diarrhea
CUI: C0401151
Disease: Chronic diarrhea
9 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Dementia
CUI: C0497327
Disease: Dementia
176 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Fecal Incontinence
CUI: C0015732
Disease: Fecal Incontinence
12 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Hypersexuality state
CUI: C0312420
Disease: Hypersexuality state
2 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Legg-Calve-Perthes Disease
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
9 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Prominent supraorbital ridges
CUI: C1842060
Disease: Prominent supraorbital ridges
10 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Repetitive compulsive behavior
CUI: C1969697
Disease: Repetitive compulsive behavior
4 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Thick vermilion border
CUI: C1836543
Disease: Thick vermilion border
15 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
Urinary Incontinence
CUI: C0042024
Disease: Urinary Incontinence
14 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0