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 1 4.0E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 2 7.9E-03 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		7 0 2 8.4E-03 0 0
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		14 0 2 8.1E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 2 7.0E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 2 7.6E-03 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 2 8.2E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 4.0E-03 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 4.1E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 3.8E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 4.1E-03 0 0
CUI: C3151952
Disease: 3-Methylglutaric aciduria
3-Methylglutaric aciduria 		3 0 1 4.2E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 2 7.2E-03 0 0
CUI: C4304505
Disease: 8p11.2 deletion syndrome
8p11.2 deletion syndrome 		1 0 1 4.3E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 1 3.7E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 2 7.3E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 5 1.5E-02 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 1 4.1E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 11 2.1E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 3 1.0E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 4.0E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 3.6E-03 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		8 0 1 4.1E-03 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 1 4.2E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 18 1.6E-02 0 0