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: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 1.4E-02 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 0 1 2.2E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.2E-02 0 0
CUI: C4304505
Disease: 8p11.2 deletion syndrome
8p11.2 deletion syndrome 		1 0 1 2.4E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 1 1.3E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 5 3.6E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 6 1.8E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 1.2E-02 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 1 2.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 5 5.3E-03 0 0
CUI: C0159060
Disease: Abnormal bowel sounds
Abnormal bowel sounds 		5 0 1 2.2E-02 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype 		4 0 1 2.3E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 1.4E-02 1 1.5E-02
CUI: C4023222
Disease: Abnormal electrophysiology of sinoatrial node origin
Abnormal electrophysiology of sinoatrial node origin 		1 0 1 2.4E-02 0 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology 		23 0 3 4.9E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 2 2.9E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 1 1.3E-02 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		10 0 1 2.0E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 7.8E-03 0 0
CUI: C3280303
Disease: Abnormal hair whorl
Abnormal hair whorl 		5 0 1 2.2E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 1 1.2E-02 0 0
CUI: C4531142
Disease: Abnormal lymphocyte physiology
Abnormal lymphocyte physiology 		1 0 1 2.4E-02 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 1.3E-02 0 0
CUI: C4531288
Disease: Abnormal morphology of left ventricular trabeculae
Abnormal morphology of left ventricular trabeculae 		1 0 1 2.4E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 1 1.4E-02 0 0