rs1555462347, USP7

N. diseases: 34
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.
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Abnormal muscle tone
CUI: C0852413
Disease: Abnormal muscle tone
7 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Anxiety
CUI: C0003467
Disease: Anxiety
287 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Autonomic bladder dysfunction
CUI: C4025212
Disease: Autonomic bladder dysfunction
1 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Complex partial seizure with impairment of consciousness
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
10 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Easy fatigability
CUI: C1837098
Disease: Easy fatigability
5 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
EEG with generalized slow activity
CUI: C4021217
Disease: EEG with generalized slow activity
6 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Fecal Incontinence
CUI: C0015732
Disease: Fecal Incontinence
12 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Few cafe-au-lait spots
CUI: C4024881
Disease: Few cafe-au-lait spots
2 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Hyperextensibility of the knee
CUI: C4023802
Disease: Hyperextensibility of the knee
3 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Hyperpigmentation
CUI: C0162834
Disease: Hyperpigmentation
11 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Hypesthesia
CUI: C0020580
Disease: Hypesthesia
6 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Macrodontia
CUI: C0266036
Disease: Macrodontia
1 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Multifocal epileptiform discharges
CUI: C4021219
Disease: Multifocal epileptiform discharges
9 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Optic Neuropathy
CUI: C3887709
Disease: Optic Neuropathy
8 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Overriding toe
CUI: C0920299
Disease: Overriding toe
13 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Recurrent urinary tract infection
CUI: C0262655
Disease: Recurrent urinary tract infection
21 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
13 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0