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 3 1.0E-02 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 3 1.1E-02 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 3.4E-03 0 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		5 0 1 3.6E-03 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		7 0 1 3.5E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 3 8.4E-03 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 3.6E-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 1 3.4E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 6 1.8E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 3.3E-03 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 3.6E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 3.3E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 3.3E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 2 7.0E-03 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 2 7.0E-03 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		1 0 1 3.6E-03 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 0 2 7.1E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 8 2.5E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 8 2.6E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 3 9.5E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 11 3.0E-02 0 0
CUI: C0000727
Disease: Abdomen, Acute
Abdomen, Acute 		2 0 1 3.6E-03 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess 		4 0 1 3.6E-03 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		10 0 1 3.5E-03 0 0
CUI: C1142214
Disease: Abdominal cocoon
Abdominal cocoon 		1 0 1 3.6E-03 0 0