Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		8 0 1 4.7E-03 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 4.2E-03 0 0
CUI: C4476649
Disease: Abnormal apolipoprotein level
Abnormal apolipoprotein level 		3 0 3 1.4E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 4.6E-03 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 1 4.7E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 34 3.1E-02 0 0
CUI: C4073008
Disease: Abnormal best corrected visual acuity test
Abnormal best corrected visual acuity test 		2 0 1 4.8E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 5 1.8E-02 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 10 4.6E-02 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		2 0 2 9.6E-03 0 0
CUI: C4022749
Disease: Abnormal brainstem MRI signal intensity
Abnormal brainstem MRI signal intensity 		5 0 1 4.7E-03 0 0
CUI: C4280733
Disease: Abnormal cardiac ventricular function
Abnormal cardiac ventricular function 		6 0 1 4.7E-03 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		9 0 1 4.6E-03 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 0 1 4.7E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 5 1.9E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 10 7 2.6E-02 2 0.12
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 2 8.1E-03 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 0 1 4.5E-03 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 4 1.7E-02 1 2.2E-02
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 1 4.0E-03 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 1 4.6E-03 0 0
CUI: C4703491
Disease: Abnormal ear morphology
Abnormal ear morphology 		1 0 1 4.8E-03 0 0
CUI: C4025825
Disease: Abnormal external genitalia
Abnormal external genitalia 		3 0 1 4.8E-03 0 0
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		5 0 1 4.7E-03 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 3 1.0E-02 0 0