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: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 3.7E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 8.0E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 2 6.2E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 2.4E-02 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 1 3.4E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 8 8.6E-03 2 1.5E-02
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.1E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 1 2.2E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 1.4E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 1.5E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 1 2.4E-02 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		13 0 2 5.9E-02 0 0
CUI: C0520933
Disease: Abnormal spermatogenesis
Abnormal spermatogenesis 		5 0 1 3.7E-02 0 0
CUI: C4021634
Disease: Abnormality of bone marrow cell morphology
Abnormality of bone marrow cell morphology 		15 0 1 2.7E-02 0 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		34 0 1 1.8E-02 0 0
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		17 0 1 2.6E-02 0 0
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		17 0 1 2.6E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 1 6.2E-03 0 0
CUI: C4023588
Disease: Abnormality of the gastrointestinal tract
Abnormality of the gastrointestinal tract 		14 0 1 2.8E-02 0 0
CUI: C4021812
Disease: Abnormality of the head
Abnormality of the head 		9 0 1 3.2E-02 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 1 1.6E-02 0 0
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx 		11 0 1 3.0E-02 0 0
CUI: C4022403
Disease: Abnormality of the substantia nigra
Abnormality of the substantia nigra 		3 0 1 4.0E-02 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 1 1.2E-02 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 1 6.7E-03 0 0