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 9.3E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 2 1.1E-02 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 1 9.9E-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 1.9E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 2 1.4E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 2 1.9E-02 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 1.0E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 9.5E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 3 2.2E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 3 1.5E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 6 1.5E-02 0 0
CUI: C1141926
Disease: Abdominal sepsis
Abdominal sepsis 		18 0 2 1.8E-02 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 2 2.0E-02 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		8 0 1 9.9E-03 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 8.2E-03 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 1 1.0E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 20 2.0E-02 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		12 0 1 9.5E-03 0 0
CUI: C0159060
Disease: Abnormal bowel sounds
Abnormal bowel sounds 		5 0 1 1.0E-02 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 2 1.8E-02 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		14 0 4 3.8E-02 0 0
CUI: C4477077
Disease: Abnormal cardiac exercise stress test
Abnormal cardiac exercise stress test 		16 0 9 8.9E-02 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		12 0 1 9.5E-03 0 0
CUI: C4021038
Disease: Abnormal circulating renin
Abnormal circulating renin 		5 0 3 3.1E-02 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		9 0 1 9.8E-03 0 0