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: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 2 5.3E-02 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 0 1 3.2E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.4E-02 0 0
CUI: C1142214
Disease: Abdominal cocoon
Abdominal cocoon 		1 0 1 3.8E-02 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		9 0 1 2.9E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.1E-03 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 1.1E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 2 3.1E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 1.9E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 2.8E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 11 1.2E-02 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		12 0 1 2.7E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 2 3.0E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 1 2.0E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 1.2E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 2 1.4E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 1 1.3E-02 0 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		8 0 1 3.0E-02 0 0
CUI: C4025650
Disease: Abnormality of lipid metabolism
Abnormality of lipid metabolism 		1 0 1 3.8E-02 0 0
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		25 0 1 2.0E-02 0 0
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		2 0 1 3.7E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 4.2E-03 0 0
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		17 0 1 2.4E-02 0 0
CUI: C4021380
Disease: Abnormality of the crus of the helix
Abnormality of the crus of the helix 		3 0 1 3.6E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		56 0 1 1.2E-02 0 0